Pending

Study of the Efficacy and Safety of Immune Globulin Intravenous (Human) Flebogamma® 5% DIF in Patients With Post-polio Syndrome
Nomad P-KAFO Study
Multidisciplinary physical rehabilitation program of individuals with spinal muscular atrophy in an inclusive school setting
Muscle Involvement in Amyotrophic Lateral Sclerosis: Understanding the Pathogenesis and Advancing Therapeutics
Educational needs of patients, families, and healthcare professionals to support the patient journey in haemophilia gene therapy in the UK
Development of 2′-O-Methyl and LNA Antisense Oligonucleotides for SMN2 Splicing Correction in SMA Cells
Identification of a Novel Acid Sphingomyelinase Activity Associated with Recombinant Human Acid Ceramidase
Gene and Cellular Therapies for Leukodystrophies
Predicting outcomes for spinal muscular atrophy: When the diagnosis no longer means what it used to mean
Safety Concerns with Nusinersen, Risdiplam, and Onasemnogene Abeparvovec in Spinal Muscular Atrophy: A Real-World Pharmacovigilance Study
Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea
Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in Wuhan area of China
Correlations between clinical motor scores and CMAP in patients with type 2 spinal muscular amyotrophy treated with nusinersen
Mitigating aberrant Cdk5 activation alleviates mitochondrial defects and motor neuron disease symptoms in spinal muscular atrophy
Measurement properties of the EQ-5D-5L and PROPr in patients with spinal muscular atrophy
Monitoring to the Evolution of Motor Function in SMA Type II Adults Patients Treated With SPINRAZA®
Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments
Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study
Safety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA) (OFELIA)
Glycine and N-Acetylcysteine (GlyNAC) Combined with Body Weight Support Treadmill Training Improved Spinal Cord and Skeletal Muscle Structure and Function in Rats with Spinal Cord Injury
Gene therapy-based strategies for spinal muscular atrophy-an Asia-Pacific perspective
Functional analysis of a novel splice site variant in the ASAH1 gene
SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy
Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth
Correction to: Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model
Children With Type 1 Spinal Muscular Atrophy Are at Increased Risk for Nephrolithiasis
A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study
The factorial survey as an approach to investigate clinical decision-making: examining influences on a clinician’s decision to initiate life-sustaining clinical technology for a child with spinal muscular atrophy type 1
Study of an Intrathecal Port and Catheter System for Subjects With Spinal Muscular Atrophy
Exercise attenuates polyglutamine-mediated neuromuscular degeneration in a mouse model of spinal and bulbar muscular atrophy
Young adults’ narratives about living with home mechanical ventilation – a phenomenological hermeneutical study
Optimizing BCI-FIT: Brain Computer Interface – Functional Implementation Toolkit
An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis
Impaired Neurodevelopment in Children with 5q-SMA – 2 Years After Newborn Screening
Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia
Letter to the Editor Regarding “Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study”
Role of echocardiography in the management of ventricular septal rupture after acute myocardial infarction
Smartphone measures motor and respiratory function in spinal muscular atrophy
261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands
Twice-Weekly Outpatient Rehabilitation Intervention for Young Children With Spinal Muscular Atrophy Treated With Genetic-Based Therapies: Protocol for a Feasibility Study
BrainGate2: Feasibility Study of an Intracortical Neural Interface System for Persons With Tetraplegia
Feasibility of the BrainGate2 Neural Interface System in Persons With Tetraplegia
Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports
Analysis of a Chinese pedigree affected with Spinal muscular atrophy due to compound heterozygous variants of SMN gene
Budget impact analysis: comparing the costs of nusinersen and risdiplam in the treatment of type 3 spinal muscular atrophy patients
Safety and Efficacy of Nusinersen and Risdiplam for Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials
Pharmacological Therapies of Spinal Muscular Atrophy: A Narrative Review of Preclinical, Clinical-Experimental, and Real-World Evidence
An Induced Pluripotent Stem Cell-Derived Human Blood-Brain Barrier (BBB) Model to Test the Crossing by Adeno-Associated Virus (AAV) Vectors and Antisense Oligonucleotides
Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy
The role of muscle degeneration and spinal balance in the pathophysiology of lumbar spinal stenosis: Study protocol of a translational approach combining in vivo biomechanical experiments with clinical and radiological parameters
Adeno-associated viruses for gene therapy – clinical implications and liver related complications, a guide for hepatologists
Spinal Muscular Atrophy (SMA) Type 1 Survival Without New Pharmacotherapies: Two Treatment Paradigms
Double trouble: Kennedy Disease and Immune-Mediated Necrotizing Myopathy in a Cree Male
Spinal muscular atrophy: Should we prescribe approved drugs to cohorts of patients in which they are unproven?
Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals
Shared and Distinct Mechanisms of UBA1 Inactivation Across Different Diseases
Evaluating a New Knee-Ankle-Foot Brace to Improve Gait in Children With Movement Disorders
Feasibility of the BrainGate2 Neural Interface System in Persons With Tetraplegia (BG-Speech-02)
Non-diabetic Euglycemic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II
Challenges in the identification of nocturnal respiratory events in adult patients affected by spinal muscular atrophy
Mitochondria replacement from transplanted amniotic fluid stem cells: a promising therapy for non-neuronal defects in spinal muscular atrophy
The Effect of Spinal Orthosis on the Development of Scoliosis and Chest Deformity in Type I Spinal Muscular Atrophy
MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders
Evaluating Perceived Fatigue within an Adult Spinal Muscular Atrophy Population
Spinal Muscular Atrophy
Human umbilical cord mesenchymal stem cell-derived exosomes loaded into a composite conduit promote functional recovery after peripheral nerve injury in rats
Current and emerging targeted therapies for spinal muscular atrophy
Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1orf194 Gene Improved CMT-Like Neuropathy in C1orf194-/- Mice
A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization
A pilot study of an integrated, personalized, respiratory and motor telerehabilitation program for pediatric patients with hereditary neuromuscular disorders
Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies
Diaphragm Fatigue in SMNΔ7 Mice and Its Molecular Determinants: An Underestimated Issue
Analysis of Free Circulating Messenger Ribonucleic Acids in Serum Samples from Late-Onset Spinal Muscular Atrophy Patients Using nCounter NanoString Technology
Enhancing Antisense Oligonucleotide-Based Therapeutic Delivery with DG9, a Versatile Cell-Penetrating Peptide
The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)
Evaluation of risdiplam efficacy in 5q spinal muscular atrophy: A systematic comparison of electrophysiologic with clinical outcome measures
Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders
Mini-review: Lethal immunotoxicity in high-dose systemic AAV therapy
Adeno-associated virus serotype 9 antibody seroprevalence for patients in the United States with spinal muscular atrophy
Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3
Frequency and satisfaction of conventional and complementary or alternative therapies for neuromuscular disorders
Volume assured pressure support mode use for non-invasive ventilation in pediatrics
Holter of Movement in Patients With SMA Undergoing Treatment.
CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature
Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures
Modified nusinersen intrathecal injection method: inclusion of a septal needle-free closed infusion connector
Evaluating case management for caregivers of children with spinal muscular atrophy type I and II-an exploratory, controlled, mixed-methods trial
Spinal Muscular Atrophy with Predominant Lower Extremity (SMA-LED) with Intellectual Disability and Dysmorphism
Long-Term Follow-Up Study of Risdiplam in Participants With Spinal Muscular Atrophy (SMA)
A Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients With Spinal Muscular Atrophy Who Experienced a Plateau or Decline in Function After Gene Therapy
A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy
Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript
Neurological and Psychiatric Aspects of Biological Markers for the Provision of Medical Care to Patients with Spinal Muscular Atrophy 5q
Monomelic amyotrophy
Diagnostic capabilities of spinal MR angiography and spinal MR tractography in a patient with motor neuron disease
Brazilian version of the CHOP INTEND scale: cross-cultural adaptation and validation
Innovating spinal muscular atrophy models in the therapeutic era
NADPH oxidase 4 inhibition is a complementary therapeutic strategy for spinal muscular atrophy
Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment

Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy
Patient and Caregiver Outcomes After Onasemnogene Abeparvovec Treatment: Findings from the Cure SMA 2021 Membership Survey
RNA-Binding Proteins: A Role in Neurotoxicity?
Study of monomelic amyotrophy of the lower limbs in the territory of the Western Balkans: Case series
An Overview of Nonclinical and Clinical Liver Toxicity Associated With AAV Gene Therapy
A Study of Nusinersen Among Participants With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec
The Effect of Aerobic Exercise Training in Patients With Type III Spinal Muscular Atrophy
Study Testing Benefits of Ursolic Acid (UA) as a Countermeasure To Myopenia and Insulin Resistance in Chronic Spinal Cord Injury (SCI)
Home Monitoring of Adult Patients With SMA: a Pilot Multicenter Validation Study
Quantitative sonographic assessment of muscle thickness and fasciculations distribution is a sensitive tool for neuromuscular disorders
Functional Implications of Protein Arginine Methyltransferases (PRMTs) in Neurodegenerative Diseases
Emerging Gene Therapy Approaches in the Management of Spinal Muscular Atrophy (SMA): An Overview of Clinical Trials and Patent Landscape
Analysis of asymptomatic Drosophila models for ALS and SMA reveals convergent impact on functional protein complexes linked to neuro-muscular degeneration
Pediatric Neuromuscular Diseases
Gastrointestinal and nutritional care in pediatric neuromuscular disorders
Respiratory failure in a patient with VACTERL association and concomitant spinal muscular atrophy
Deletions of SMNI gene exon 7 and NAIP gene exon 5 in spinal muscular atrophy patients in selected population
The indication of fusion to the pelvis in neuromuscular scoliosis is based on the underlying disease rather than on pelvic obliquity
Characteristics of paraspinal muscle degeneration in patients with adult degenerative scoliosis
Daily Quantity and Kinematic Characteristics of Leg Movement in a Child With SMA (2 Copies SMN2)
Sociodemographic and clinical characteristics and access to health care in patients with spinal muscular atrophy in Argentina
A Mixed-method Approach to Develop an Ambulatory Module of the SMA Independence Scale
Base editing: a promising tool to rescue spinal muscular atrophy
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Early treatment of type II SMA slows rate of progression of scoliosis
Muscle: to the neuromuscular disease phenotype in spinal muscular atrophy
Differential impact on motor unit characteristics across severities of adult spinal muscular atrophy
Management of muscle relaxation with rocuronium in an infant with spinal muscular atrophy with lower extremity predominance type 2B
Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15
PRMT inhibitor promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue SMA mice
Management of Critically Ill Patients With Spinal Muscular Atrophy Admitted With Acute Respiratory Failure: The Authors’ Reply
A Paradigm Shift for the Management of Critically Ill Patients With Spinal Muscular Atrophy
Digital measures of respiratory and upper limb function in spinal muscular atrophy: design, feasibility, reliability, and preliminary validity of a smartphone sensor-based assessment suite
Spinal and bulbar muscular atrophy combined with hypertrophic cardiomyopathy and Brugada-pattern electrocardiographic changes: A case report
Gene therapy: Where are we? Where are we going?
A round up of developments in real-world evidence relating to health technology assessment: part 13
Pilot Study on Newborn Screening for Spinal Muscular Atrophy
Low bone mineral density and reduced bone-specific alkaline phosphatase in 5q spinal muscular atrophy type 2 and type 3: A 2-year prospective study of bone health
Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?
Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report
Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen
Understanding the Interplay Between Paraspinal Muscle Atrophy and Lumbar Endplate Degeneration: A 3-Year Longitudinal Study
Clinical phenotype of paediatric and adult patients with spinal muscular atrophy with 4 SMN2 copies: are they really all stable?
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification
Radiological and Genetic Evaluation in Hypotonic Infants
Improvement of serum sample preparation and chromatographic analysis of nusinersen used for the treatment of spinal muscular atrophy
Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study
Serotonergic dysfunction impairs locomotor coordination in spinal muscular atrophy
Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting
Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment
Deep screening of proximal and distal splicing-regulatory elements in a native sequence context
Re-survey of 16 Japanese patients with advanced-stage hereditary motor sensory neuropathy with proximal dominant involvement (HMSN-P): Painful muscle cramps for early diagnosis
Lessons from Real Life Experience: Importance of In-House Sequencing and Smart Ratio-Based Real-Time PCR Outperform Multiplex Ligation-Dependent Probe Amplification in Prenatal Diagnosis for Spinal Muscular Atrophy: Bench to Bedside Diagnosis
COPI coatomer subunit α-COP interacts with the RNA binding protein Nucleolin via a C-terminal dilysine motif
Later efficacy of nusinersen treatment in adult patients with spinal muscular atrophy: A retrospective case study with a median 4-year follow-up
Prevalence of morbidities across the lifespan for adults with spinal muscular atrophy: a retrospective cohort study
Safety and effectiveness of nusinersen, a treatment for spinal muscular atrophy, in 524 patients: results from an interim analysis of post-marketing surveillance in Japan
Friedreich’s Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure
Newborn screening for spinal muscular atrophy – what have we learned?
Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment
Advancing Epidemiology and Genetic Approaches for the Treatment of Spinal and Bulbar Muscular Atrophy: Focus on Prevalence in the Indigenous Population of Western Canada
Nutritional rickets masquerading as spinal muscular atrophy type III
Spinal Muscular Atrophy Type I With False Negative in Newborn Screening: A Case Report
Childhood spinal muscular atrophy
A new line method; A direct test in spinal muscular atrophy screening for DBS
Assessing the impact of grief on quality of life, work productivity, and health outcomes for parents bereaved from SMA: A study protocol
Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project
Impact of nusinersen on the health-related quality of life and caregiver burden of patients with spinal muscular atrophy with symptom onset after age 6 months
PolyQ Database-an integrated database on polyglutamine diseases
Increased SIRT3 combined with PARP inhibition rescues motor function of SBMA mice
Caenorhabditis elegans: A transgenic model for studying age-associated neurodegenerative diseases
Epithelioid Neoplasm of the Spinal Cord in a Child with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec
Enhanced low-threshold motor unit capacity during endurance tasks in patients with spinal muscular atrophy using pyridostigmine
Application of a Multiplex Ligation-Dependent Probe Amplification-Based Next-Generation Sequencing Approach for the Detection of Pathogenesis of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy Caused by Copy Number Aberrations
OTTM: an automated classification tool for translational drug discovery from omics data
Health Care Resource Utilization and Costs for Patients with Spinal Muscular Atrophy: Findings from a Retrospective US Claims Database Analysis
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada
Efficacy of Risdiplam in Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis
Patient-reported impact of symptoms in lung cancer (PRISM-LC)
NRF2 has a splicing regulatory function involving the survival of motor neuron (SMN) in non-small cell lung cancer
Sleep architecture and Nusinersen therapy in children with Spinal Muscular Atrophy type 1
Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function
Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy
Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment
Lessons Learned in Time-Is Neurodegeneration Still Something Unpredictable?
Telemedicine Use, Comfort, and Perceived Effectiveness in the Spinal Muscular Atrophy Community
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy
On the path to evidence-based therapy in neuromuscular disorders
Neonatal and infantile hypotonia
Evaluation of the therapeutic efficacy and tolerability of current drug treatments on the clinical outcomes of paediatric spinal muscular atrophy type 1: A systematic review
Feasibility and tolerability of multimodal peripheral electrophysiological techniques in a cohort of patients with spinal muscular atrophy
Effect on maximal mouth opening in children with spinal muscular atrophy treated with onasemnogene abeparvovec
Slowly progressive late-onset spinal muscular atrophy Finkel-type related to p.Pro56Ser VABP mutation in Colombia
Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study
Evaluation of the neurofilament light chain as a biomarker in children with spinal muscular atrophy treated with nusinersen
Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience
Quality appraisal of clinical practice guidelines for motor neuron diseases or related disorders using the AGREE II instrument
A Study to Investigate the Pharmacokinetics and Safety of Risdiplam in Infants With Spinal Muscular Atrophy

Adeno-Associated Virus-Mediated Gene Therapy
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A
Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review
The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers
Early Splicing Complexes and Human Disease
Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy
Gene therapy for heart failure and cardiomyopathies
AAV9-mediated SMN gene therapy rescues cardiac desmin but not Lamin a/C and elastin dysregulation in Smn 2B/- spinal muscular atrophy mice
The MORC2 p.S87L mutation reduces proliferation of pluripotent stem cells derived from a patient with the spinal muscular atrophy-like phenotype by inhibiting proliferation-related signaling pathways
WNT-β Catenin Signaling as a Potential Therapeutic Target for Neurodegenerative Diseases: Current Status and Future Perspective
Universal newborn screening for spinal muscular atrophy in Ukraine
Evaluating the performance of four assays for carrier screening of spinal muscular atrophy
Health-related quality of life of children with spinal muscular atrophy in Sweden: A prospective cohort study in the era of disease-modifying therapy
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
Cardiac Rehabilitation in a Transplanted Person with Emery-Dreifuss Muscular Dystrophy
Impaired diaphragmatic motility in treatment-naive adult patients with spinal muscular atrophy improved during nusinersen treatment
Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal muscle
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy
Investigating the role of ASCC1 in the causation of bone fragility
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development
Expert consensus on newborn screening for spinal muscular atrophy (2023 edition)
Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial
Feasibility analysis of intrathecal administration strategy of nusinersen based on Cobb angle in children with spinal muscular atrophy
In Search of Adeno-Associated Virus Vectors With Enhanced Cardiac Tropism for Gene Therapy
Caregivers’ Expectations on Possible Functional Changes following Disease-Modifying Treatment in Type II and III Spinal Muscular Atrophy: A Comparative Study
Dietary Implications of the Bidirectional Relationship between the Gut Microflora and Inflammatory Diseases with Special Emphasis on Irritable Bowel Disease: Current and Future Perspective
Neurofilament Light Chain: A Translational Safety Biomarker for Drug-Induced Peripheral Neurotoxicity
The identification of protein and RNA interactors of the splicing factor Caper in the adult Drosophila nervous system
Behavioral and neurological effects of Vrk1 deficiency in zebrafish
Closing the Gap – Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort
How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?
Gene therapy for spinal muscular atrophy
Understanding caregiver experiences with disease-modifying therapies for spinal muscular atrophy: a qualitative study
Case Report: A case of spinal muscular atrophy with extensively drug-resistant Acinetobacter baumannii pneumonia treated with nebulization combined with intravenous polymyxin B: experience and a literature review
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study
A protospacer adjacent motif-free, multiplexed, and quantitative nucleic acid detection platform with barcode-based Cas12a activity
Impact of contractures on daily functioning in adolescents with spinal muscular atrophy: a qualitative study
Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study
Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results
Sex difference in spinal muscular atrophy patients – are males more vulnerable?
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor
Gene transfer therapy in children with spinal muscular atrophy: A single-center experience with a cohort of 25 children
A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review
Incidence and prevalence of Spinal and bulbar muscular atrophy in South Korea: a nationwide population-based study
Charting the Next Road Map for CSF Biomarkers in Alzheimer’s Disease and Related Dementias
Evaluation of Paraspinal Muscle Degeneration on Pain Relief after Percutaneous Epidural Adhesiolysis in Patients with Degenerative Lumbar Spinal Disease
Effect of the COVID-19 pandemic on outpatient care and rehabilitation in neuromuscular clinical practice in Japan: a health insurance claims database analysis
Early Development of Spinal Deformities in Children Severely Affected with Spinal Muscular Atrophy after Gene Therapy with Onasemnogene Abeparvovec-Preliminary Results
In Vitro Modeling as a Tool for Testing Therapeutics for Spinal Muscular Atrophy and IGHMBP2-Related Disorders
Adult-Onset Neuroepidemiology in Finland: Lessons to Learn and Work to Do
Expanding the Availability of Onasemnogene Abeparvovec to Older Patients: The Evolving Treatment Landscape for Spinal Muscular Atrophy
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration
Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy
Long-term effects of the gait treatment using a wearable cyborg hybrid assistive limb in a patient with spinal and bulbar muscular atrophy: a case report with 5 years of follow-up
Healthcare Utilization, Costs of Care, and Mortality Among Patients With Spinal Muscular Atrophy
Spinal Muscular Atrophy: Are Small Sensory Fibers involved?
Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany
Hirayama Disease: A Rare Case Report and Review
How do Orphan Disease Patients Live Under the Pandemic of Omicron Variant? – A Nationwide Survey of Spinal Muscular Atrophy Patients in China
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans
Effects of the COVID-19 Pandemic on SMA Screening and Care: Physician and Community Insights
Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing
The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method
Oxidative stress: roles in skeletal muscle atrophy
Ibrutinib Delays ALS Installation and Increases Survival of SOD1G93A Mice by Modulating PI3K/mTOR/Akt Signaling
Ventral Root Atrophy in Spine Magnetic Resonance Imaging in Spinal Muscular Atrophy: A New Biomarker?
Enhanced expression of the human Survival motor neuron 1 gene from a codon-optimised cDNA transgene in vitro and in vivo
Reply to letter to the editor “Regarding nusinersen and other therapeutic strategies for improved motor function”
Influence of paraspinal growth-friendly spinal implants (GFSI) in children with spinal muscular atrophy (SMA) on parasol deformity, rib-vertebral angles, thoracic and lung volumes
Molecular pathological mechanism of liver metabolic disorder in mice with severe spinal muscular atrophy
Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 2 Patients
The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures
Hindlimb muscle representations in mouse motor cortex defined by viral tracing
Splicing activates transcription from weak promoters upstream of alternative exons
Challenges and future perspective of antisense therapy for spinal muscular atrophy: A review
Demographic changes in a large motor neuron disease cohort in Portugal: a 27 year experience
Expert consensus on newborn screening for spinal muscular atrophy
Utility of Skeletal Muscle CT in Diagnosing Spinal Muscular Atrophy Type 3 in a Patient Who Had Been Undiagnosed for 50 Years
Neurodegeneration in the retina of motoneuron diseases: a longitudinal study in amyotrophic lateral sclerosis and Kennedy’s disease
Respiratory and sleep outcomes in children with SMA treated with nusinersen – real world experience
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach
Biomarkers in 5q-associated spinal muscular atrophy-a narrative review
Dropped Head Syndrome As a Presenting Sign of Different Diseases: Report of Three Cases
Top ten discoveries of the year: Neuromuscular disease
Neuromuscular disease: 2021 update
Cognitive performance of adult patients with SMA before and after treatment initiation with nusinersen
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum
A Critical Appraisal of Matching-Adjusted Indirect Comparisons in Spinal Muscular Atrophy
Alignment of magnetic sensing and clinical magnetomyography
Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models
Barriers and facilitating factors of care coordination for children with spinal muscular atrophy type I and II from the caregivers’ perspective: an interview study
X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease
VRK1 variants at the cross road of Cajal body neuropathogenic mechanisms in distal neuropathies and motor neuron diseases
Applications of brain-computer interfaces in neurodegenerative diseases
Spinal Muscular Atrophy Type III Recognized After Delayed Recovery From Neuromuscular Blockade After an Orthognathic Surgery
Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen
254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 – 30 January 2022
Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children: A Cross-Sectional Study

Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid Samples
Real World Evidence on the Effectiveness of Nusinersen within the National Program to Treat Spinal Muscular Atrophy in Poland
Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency
Simple and efficient differentiation of human iPSCs into contractible skeletal muscles for muscular disease modeling
Detection of FLAD1 mutations and lipid storage myopathy in a 5-year-old boy: a case report study
Decision-making and challenges within the evolving treatment algorithm in spinal muscular atrophy: a clinical perspective
HnRNPR strongly represses splicing of a critical exon associated with spinal muscular atrophy through binding to an exonic AU-rich element
Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England
Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation
Cerebellar structural, astrocytic, and neuronal abnormalities in the SMNΔ7 mouse model of spinal muscular atrophy
In a zebrafish biomedical model of human Allan-Herndon-Dudley syndrome impaired MTH signaling leads to decreased neural cell diversity
Results of carrier screening for Spinal muscular atrophy among 35 145 reproductive-aged individuals from Dongguan region
Development of an International SMA Bulbar Assessment for Inter-professional Administration
A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing
Necrotizing Enterocolitis Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series
Glycerol induced paraspinal muscle degeneration leads to hyper-kyphotic spinal deformity in wild-type mice
Fetal first-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related Spinal Muscular Atrophy with Bone Fractures 2
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
Recent Advances in Novel Therapies for Neurological Diseases: An Overview and Future Scope
Treatment of Spinal Muscular Atrophy
Drug Administration for Childhood Neurological Disorders
Examination of Upper Limb Function and the Relationship with Gross Motor Functional and Structural Parameters in Patients with Spinal Muscular Atrophy
RNA Transcript Diversity in Neuromuscular Research
Subjective Sleep Quality as it Relates to Cognitive and Physical Function in Spinal Muscular Atrophy Patients
Adverse events in the treatment of spinal muscular atrophy in children and adolescents with nusinersen: A systematic review and meta-analysis
Clinical applications of gene therapy for rare diseases: A review
Likely pathogenic variant in the BICD2 gene in fetus presenting with non-immune hydrops
On “Clinical and Research Readiness for Spinal Muscular Atrophy: The Time Is Now for Knowledge Translation.” Krosschell KJ, Young SD, Peterson I, et al. Phys Ther. 2022;102:pzac108. https://doi.org/10.1093/Ptj/pzac108
Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular Atrophy
Too much information? Asian Americans’ preferences for incidental brain MRI findings
Glucagon-like peptide-1 analog therapy in rare genetic diseases: monogenic obesity, monogenic diabetes, and spinal muscular atrophy
Corneal confocal microscopy reveals small nerve fibre loss correlating with motor function in adult spinal muscular atrophy
Tudor-dimethylarginine interactions: the condensed version
Posterior spinal fusion in patients with spinal muscular atrophy: a surgical technique to allow intrathecally inject nusinersen
The regulatory role of alternative splicing in inflammatory bowel disease
Real-Life Outcome After Gene Replacement Therapy for Spinal Muscular Atrophy: A Multicenter Experience
Estimation of FMO3 Ontogeny by Mechanistic Population Pharmacokinetic Modelling of Risdiplam and Its Impact on Drug-Drug Interactions in Children
Gene Therapy for Dopamine Dyshomeostasis: From Parkinson’s to Primary Neurotransmitter Diseases
Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy
Immunization status of patients with spinal muscular atrophy receiving nusinersen therapy
ATS Core Curriculum 2022. Pediatric Pulmonary Medicine: Updates in pediatric neuromuscular disease
An Hspa8 variant is a shocking modifier of spinal muscular atrophy in mice
Medical rehabilitation of patients with spinal muscular atrophy
Objective measurement of oral function in adults with spinal muscular atrophy
Distinguishing between DNA-Loaded Full and Empty Capsids of Adeno-Associated Virus with Atomic Force Microscopy Imaging
Post-polio syndrome presenting as isolated neck extensor myopathy: a case report
A QSAR study to predict the survival motor neuron promoter activity of candidate diaminoquinazoline derivatives for the potential treatment of spinal muscular atrophy
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review
Iliopsoas Muscle Weakness as a Key Diagnostic Marker in HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP)
Redox Imbalance in Neurological Disorders in Adults and Children
Nifedipine Ameliorates Cellular Differentiation Defects of Smn-Deficient Motor Neurons and Enhances Neuromuscular Transmission in SMA Mice
Effectiveness of Nusinersen in Type 1, 2 and 3 Spinal Muscular Atrophy: Croatian Real-World Data
Scoliosis Treatment With Growth-Friendly Spinal Implants (GFSI) Relates to Low Bone Mineral Mass in Children With Spinal Muscular Atrophy
The Alterations of Gut Microbiome and Lipid Metabolism in Patients with Spinal Muscular Atrophy
Burden of disease of spinal muscular atrophy linked to chromosome 5q (5q-SMA) in Colombia
Longitudinal prospective cohort study to assess peripheral motor function with extensive electrophysiological techniques in patients with Spinal Muscular Atrophy (SMA): the SMA Motor Map protocol
Translating fatigability in spinal muscular atrophy to clinical trials and management
Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients
Axial Postural Abnormalities in Parkinsonism: Gaps in Predictors, Pathophysiology, and Management
Role of the Osteocyte in Musculoskeletal Disease
AMPK is mitochondrial medicine for neuromuscular disorders
Recommendations for economic evaluations of cell and gene therapies: a systematic literature review with critical appraisal
Regional spreading pattern is associated with clinical phenotype in amyotrophic lateral sclerosis
Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)
Comparison of neurofilament light and heavy chain in spinal muscular atrophy and amyotrophic lateral sclerosis: A pilot study
Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment
Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene
Improvement of muscle strength in specific muscular regions in nusinersen-treated adult patients with 5q-spinal muscular atrophy
New therapies for spinal muscular atrophy: where we stand and what is next
MiR34 contributes to spinal muscular atrophy and AAV9-mediated delivery of MiR34a ameliorates the motor deficits in SMA mice
Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma)
An observational cohort study on pulmonary function in adult patients with 5q-spinal muscular atrophy under nusinersen therapy
Genotype and clinical phenotype analysis of a Family with Kennedy disease
Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR
Sex and Gender Differences in Neurodegenerative Diseases: Challenges for Therapeutic Opportunities
Microscopic and Biochemical Hallmarks of BICD2 -Associated Muscle Pathology toward the Evaluation of Novel Variants
Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy
Mechanical Insufflation-Exsufflation: The Rest of the Story
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy
Diverse targets of SMN2-directed splicing-modulating small molecule therapeutics for spinal muscular atrophy
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018
Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy
CHCHD2 and CHCHD10-related neurodegeneration: molecular pathogenesis and the path to precision therapy
Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth
ERK MAPK signaling pathway inhibition as a potential target to prevent autophagy alterations in Spinal Muscular Atrophy motoneurons
Structural and functional characterization of capsid binding by anti-AAV9 monoclonal antibodies from infants after SMA gene therapy
Safety and Efficacy of NMD670 in Ambulatory Adult Patients With Type 3 Spinal Muscular Atrophy
Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses
Elevated plasma p-tau181 levels unrelated to Alzheimer’s disease pathology in amyotrophic lateral sclerosis
Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study
Editorial: Advances in spinal muscular atrophy
Personalized treatment options for spinal muscular atrophy
The White Coat Cape: An Ethical Analysis of Emerging Therapies to Treat Spinal Muscular Atrophy
Treating neurodegenerative disease: Nusinersen and other therapeutic strategies for improved motor function
Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation
Base editing rescue of spinal muscular atrophy in cells and in mice
Update on drug treatment of spinal muscular atrophy
Carrier frequency of Spino-muscular atrophy in individuals of a reproductive age group from North India

Evolving regulatory perspectives on digital health technologies for medicinal product development
Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. Genes 2022, 13 , 2110
Orphan Drugs in Neurology-A Narrative Review
Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study
Subcutaneous Intrathecal Catheter and Port for Repetitive Nusinersen Administration
The RESISTANT study (Respiratory Muscle Training in Patients with Spinal Muscular Atrophy): study protocol for a randomized controlled trial
Intermolecular And Dynamic Investigation of The Mechanism of Action of Reldesemtiv on Fast Skeletal Muscle Troponin Complex Toward the Treatment of Impaired Muscle Function
Generation of functional posterior spinal motor neurons from hPSCs-derived human spinal cord neural progenitor cells
Review of economic modeling evidence from NICE appraisals of rare disease treatments for spinal muscular atrophy
Modern principles of therapy for patients with spinal muscular atrophy
Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients
A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture
Procedural Sedation for Pediatric Patients with Spinal Muscular Atrophy Undergoing Intrathecal Treatment
Ultrasound-enhanced brain delivery of edaravone provides additive amelioration on disease progression in an ALS mouse model
Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy
Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders
Neurodevelopmental defects as a primer of neurodegeneration: lessons from spinal muscular atrophy and Huntington’s disease
Spinal Muscular Atrophy: A New Frontier but the Same Old Boundaries
Spinal muscular atrophy and anorexia nervosa: a case report
Clinical features and pathogenesis of scoliosis due to spinal astrocytoma
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations
Human Neuromuscular Junction on a Chip: Impact of Amniotic Fluid Stem Cell Extracellular Vesicles on Muscle Atrophy and NMJ Integrity
Pathophysiology and Management of Fatigue in Neuromuscular Diseases
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry
Best practice recommendations for speech-language pathology in children with neuromuscular disorders: A Delphi-based consensus study
Reproductive findings in male animals exposed to selective survival of motor neuron-2 (SMN2) gene splicing modifying agents
Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers
Airway clearance in patients with neuromuscular disease
Variability in newborn screening across Canada: spinal muscular atrophy and beyond
The TUDOR domain of SMN is an H3K79me1 histone mark reader
A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy
Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation
Chemistry, structure and function of approved oligonucleotide therapeutics
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function
Pathways to healing: Plants with therapeutic potential for neurodegenerative diseases
Re-evaluation of the symptoms of Hirayama disease through anatomical perspective
SMN post-translational modifications in spinal muscular atrophy
Atypical Presentation of Hirayama Disease Involving the Cervico-Thoracic Segment Causing Diagnostic Dilemma: A Case Report
Integrative genetic and single cell RNA sequencing analysis provides new clues to the amyotrophic lateral sclerosis neurodegeneration
Prepare for the worst…Hope for the best
Respiratory phenotypes in ALS as determined by respiratory questions of the ALSFRS-R and their relation to respiratory tests
Longitudinal Assessment of Timed Function Tests Over Time in Ambulatory Individuals with SMA Treated with Nusinersen
Successful weaning from the invasive respiratory support after nusinersen treatment in a child with SMA type 1: A case report
Myopathic changes caused by protein aggregates in adult-onset spinal muscular atrophy
Editorial: Viral vector-based gene therapy in neurological disease: The future is now
A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses
Facial nerve vulnerability in spinal muscular atrophy and motor unit number index (MUNIX) of the orbicularis oculi muscle
Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province
Neuroinflammation in spinal muscular atrophy
Depression, anxiety and sleep quality of caregivers of children with spinal muscular atrophy
Presymptomatic spinal muscular atrophy: a cautionary approach to the proposed new terminology
Nusinersen for adults with spinal muscular atrophy
Treatment of spinal muscular atrophy with Onasemnogene Abeparvovec in Switzerland: a prospective observational case series study
Study of the Safety and Efficacy of an Adeno-Associated Viral Vector Carrying the SMN Gene After a Single Intravenous Administration of Escalating Doses in Children With Spinal Muscular Atrophy (BLUEBELL)
Early recognition, diagnosis and treatment of spinal muscular atrophy
Dysfunctional mitochondria accumulate in a skeletal muscle knockout model of Smn1, the causal gene of spinal muscular atrophy
Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy
Long-Term SMN – and Ncald -ASO Combinatorial Therapy in SMA Mice and NCALD -ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects
Sporadic Spinal-Onset Amyotrophic Lateral Sclerosis Associated with Myopathy in Three Unrelated Portuguese Patients
First Use of Non-Invasive Spinal Cord Stimulation in Motor Rehabilitation of Children with Spinal Muscular Atrophy
Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions
A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients
Comparison of Distal Spine Anchors and Distal Pelvic Anchors in Children With Hypotonic Neuromuscular Scoliosis Treated With Growth-friendly Instrumentation
Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study
Huntingtin-associated protein 1-associated intracellular trafficking in neurodegenerative diseases
Gene therapy for alpha-1 antitrypsin deficiency: an update
Gene Therapies in Motor Neuron Diseases ALS and SMA
Risdiplam in non-sitter patients aged 16 years and older with 5q spinal muscular atrophy
Gene therapy for selected neuromuscular and trinucleotide repeat disorders – An insight to subsume South Asia for multicenter clinical trials
Pain in Spinal Muscular Atrophy: A Questionnaire Study
Comprehensive assessment model for patients with spinal muscular atrophy: proposal of tools for clinical practice and real-world studies
Bibrachial Amyotrophy Due to Spontaneous Spinal Cerebrospinal Fluid Leak
Camptocormia as an Unusual Presenting Symptom of Myotonic Dystrophy Type 2: An Overlooked Cause of Axial Myopathy
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4
Assessing validity of the EQ-5D-5L proxy in children and adolescents with Duchenne muscular dystrophy or spinal muscular atrophy
Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany
A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of BIIB115
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial
Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis
Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report
Mechanisms of action and patentability of therapeutic oligonucleotides
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome
Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients
Sleep disorders in patients with neuromuscular diseases
Spinal Muscular Atrophy Treatment: The MTOR Regulatory Intervention
Economic evaluation of population-based expanded reproductive carrier screening for genetic diseases in Australia
User-perceived impact of long-term mechanical assisted cough in paediatric neurodisability
Plastin 3 rescues BDNF-TrkB signaling in spinal muscular atrophy
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study
Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy
Current attitudes toward carrier screening for spinal muscular atrophy among pregnant women in Eastern China
Depletion of plasma thymidine results in growth retardation and mitochondrial myopathy in mice overexpressing human thymidine phosphorylase
The SMN Complex at the Crossroad between RNA Metabolism and Neurodegeneration
SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular Atrophy
Evaluation of sputum cultures in children with spinal Muscular atrophy
An Overview of the Therapeutic Strategies for the Treatment of Spinal Muscular Atrophy

Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report
Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model
Cost-effectiveness of IVF with PGT-M/A to prevent transmission of spinal muscular atrophy in offspring of carrier couples
Neuromuscular junction disorders: Experimental models and pathophysiological mechanisms
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle
AAV vectors applied to the treatment of CNS disorders: Clinical status and challenges
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
Brain-protective mechanisms of autophagy associated circRNAs: Kick starting self-cleaning mode in brain cells via circRNAs as a potential therapeutic approach for neurodegenerative diseases
Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: A systematic review and meta-analysis
Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1
DG9-conjugated morpholino rescues phenotype in SMA mice by reaching the CNS via a subcutaneous administration
Bicalutamide and Trehalose Ameliorate Spinal and Bulbar Muscular Atrophy Pathology in Mice
Base editing as a genetic treatment for spinal muscular atrophy
Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing
Application of single sperm sequencing for the preimplantation genetic testing of a Chinese family affected with Spinal muscular atrophy
SHEAR WAVE ELASTOGRAPHY IN PATIENTS WITH SPINAL MUSCULAR ATROPHY TYPE 2-3
Antisense Oligonucleotide Therapeutics for Cystic Fibrosis: Recent Developments and Perspectives
Role of paraspinal muscle degeneration in the occurrence and recurrence of osteoporotic vertebral fracture: A meta-analysis
Assessment of motor function and nutritional status in children with spinal muscular atrophy treated with nusinersen after loading period in Western China: a retrospective study
Progress and challenges in directing the differentiation of human iPSCs into spinal motor neurons
An Integrated Physiotherapeutic Approach With Virtual Reality in Schizophrenic Patients With Ipsilateral Femoral Shaft and Intertrochanteric Fractures: A Case report
Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers-A Prospective, Cross-Sectional, Multi-Center Analysis
Electrical Stimulation for Preventing Skin Injuries in Denervated Gluteal Muscles-Promising Perspectives from a Case Series and Narrative Review
Gene Therapy in ALS and SMA: Advances, Challenges and Perspectives
Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing
Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study
Newborn screening for spinal muscular atrophy
Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy
Dysphagia and Lung Disease in Children With Spinal Muscular Atrophy Treated With Disease Modifying Agents
Diminished motor neuron activity driven by abnormal astrocytic EAAT1 glutamate transporter activity in spinal muscular atrophy is not fully restored after lentiviral SMN delivery
Inpatient rehab admission for a patient with spinal muscular atrophy status post gene therapy
Criterion validity of the spatial exploration test of upper limb mobility to evaluate the active horizontal workspace of children with spinal muscular atrophy
Nusinersen treatment in a type 3 spinal muscular atrophy patient during early pregnancy
Examining Real-World Adherence to Nusinersen for the Treatment of Spinal Muscular Atrophy Using Two Large US Data Sources
Progress in Clinical Gene Therapy for Cardiac Disorders
Anxiety in children with SMA – An underestimated problem
Commentary on “Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect”
DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum
Needleless inhaled anesthesia with sevoflurane: advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen
Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4
NeuroLINCS Proteomics: Defining human-derived iPSC proteomes and protein signatures of pluripotency
Inherited myopathy plus: Double-trouble from rare neuromuscular disorders
Synthetic Biology Design as a Paradigm Shift toward Manufacturing Affordable Adeno-Associated Virus Gene Therapies
Hybrid reflected-ultrasound computed tomography versus B-mode-ultrasound for muscle scoring in spinal muscular atrophy
Effects of the Jokela Type of Spinal Muscular Atrophy-Related G66V Mutation on the Structural Ensemble Characteristics of CHCHD10
Adeno-associated virus vector intraperitoneal injection induces colonic mucosa and submucosa transduction and alters the diversity and composition of the faecal microbiota in rats
Parents’ dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1
Survival motor neuron protein and neurite degeneration are regulated by Gemin3 in spinal muscular atrophy motoneurons
General movements in spinal muscular atrophy type 1
Usefulness of YouTube in Sharing Information about New Gene Therapy for Spinal Muscular Atrophy: A Content Analysis
Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function
Plastin 3 rescues cell surface translocation and activation of TrkB in spinal muscular atrophy
Biodistribution of adeno-associated virus gene therapy following CSF-directed administration
Psychometric Evaluation of modified Spinal Muscular Atrophy Functional Rating Scale (SMAFRS) in adult patients using Rasch Analysis
Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China
Utility estimations of different health states of patients with type I, II, and III spinal muscular atrophy in China: A mixed approach study with patient and proxy-reported data
Correlation between atrophy of the gluteus medius muscle and symptoms of lumbar spinal stenosis
SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis
Agonist of growth hormone-releasing hormone improves the disease features of spinal muscular atrophy mice
Management of Critically Ill Patients With Spinal Muscular Atrophy Admitted With Acute Respiratory Failure
Cerebral Aβ deposition in an Aβ-precursor protein-transgenic rhesus monkey
The length of uninterrupted CAG repeats in stem regions of repeat disease associated hairpins determines the amount of short CAG oligonucleotides that are toxic to cells through RNA interference
The roles of HSP40/DNAJ protein family in neurodegenerative diseases
Addressing the implementation gap in advanced therapeutics for spinal muscular atrophy in the era of newborn screening programs
Metabolic assessment in children with neuromuscular disorders shows risk of liver enlargement, steatosis, and fibrosis
Feasibility of Intrathecal Therapeutic Injections in Spinal Muscular Atrophy Patients via a Percutaneous Trans-Sacral Hiatus Route: An Initial Neuroimaging Morphometric Study
Genetics and”democracy”
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study
Behavioral problems in infants and young children with spinal muscular atrophy and their siblings: A cross-sectional study
Prospective Analysis of Functional and Structural Changes in Patients with Spinal Muscular Atrophy-A Pilot Study
Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening
Social Media as a Source of Knowledge about Gene Therapy for Spinal Muscular Atrophy
Communication of the Diagnosis of Spinal Muscular Atrophy in the Views of Patients and Family Members, a Qualitative Analysis
Spinal Irisin Gene Delivery Attenuates Burn Injury-Induced Muscle Atrophy by Promoting Axonal Myelination and Innervation of Neuromuscular Junctions
Spinal Cord Injury Causes Marked Tissue Rearrangement in the Urethra-Experimental Study in the Rat
Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders
Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1
Tissue Engineering Applied to Skeletal Muscle: Strategies and Perspectives
Current treatments of spinal muscular atrophy in adults
Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement
Disease Burden in Children With Spinal Muscular Atrophy: Results From a Large Cross-Sectional Study
A Breakthrough Effect of Gene Replacement Therapy on Respiratory Outcomes in Children with Spinal Muscular Atrophy
Adherence and Persistence to Nusinersen for Spinal Muscular Atrophy: A US Claims-Based Analysis
Patient Reported Outcome Measures in Adult Spinal Muscular Atrophy: A Scoping Review and Graphical Visualization of the Evidence
Inflammatory markers in cerebrospinal fluid of paediatric spinal muscular atrophy patients receiving nusinersen treatment
Room to improve: The diagnostic journey of Spinal Muscular Atrophy
The Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA): Protocol for a Longitudinal Observational Study
Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2
Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1-3 patients treated with nusinersen
Electromagnetic field stimulation facilitates motor neuron excitability, myogenesis and muscle contractility in spinal cord transected rats
Thoracic Jia-Ji electro-acupuncture mitigates low skeletal muscle atrophy and improves motor function recovery following thoracic spinal cord injury in rats
Analysis of scores of Symptom Checklist 90 (SCL-90) questionnaire of 182 parents of children with spinal muscular atrophy: a cross-sectional study
The quality of life in children with spinal muscular atrophy: a case-control study
Open-labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study
Newborn screening and gene therapy in SMA: Challenges related to vaccinations
NSC Physiological Features in Spinal Muscular Atrophy: SMN Deficiency Effects on Neurogenesis

Prospects for gene replacement therapies in amyotrophic lateral sclerosis
Perceived Exertion is not a Substitute for Fatiguability in Spinal Muscular Atrophy
ABT1 modifies SMARD1 pathology via interactions with IGHMBP2 and stimulation of ATPase and helicase activity
ALS Regional Variants (Brachial Amyotrophic Diplegia and Amyotrophic Leg Diplegia): Still A Diagnostic Challenge in Neurology
Thoracolumbar Sacral Orthosis for Spinal Fractures: What’s the Evidence and Do Patients Use Them?
A severely affected adult type 2 spinal muscular atrophy patient treated with risdiplam
A pediatric quantitative systems pharmacology model of neurofilament trafficking in spinal muscular atrophy treated with the antisense oligonucleotide nusinersen
A comparative analysis of body composition assessment by BIA and DXA in children with type II and III spinal muscular atrophy
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey
Muscle impairment in MRI affect variability in treatment response to nusinersen in patients with spinal muscular atrophy type 2 and 3: A retrospective cohort study
Assessment of health-related quality of life in patients with spina muscular atrophy in China
Long term follow-up of scoliosis progression in type II SMA patients
Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions
Costs and Utilization of New-to-Market Neurologic Medications
Changes in UK paediatric long-term ventilation practice over 10 years
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases
Polysomnography findings in children with spinal muscular atrophy after onasemnogene-abeparvovec
Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea
Correction: Systematic review and meta-analysis determining the benefits of in vivo genetic therapy in spinal muscular atrophy rodent models
Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab-ONYX
Expanding the spectrum of TBK1-related disorders: Adult-onset non-5q spinal muscular atrophy
PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
Novel Three-Holed Titanium Plate Fixation during Open Door Laminoplasty for Cervical Spondylotic Myelopathy: Comparison with Conventional Titanium Plate
p53-dependent c-Fos expression is a marker but not executor for motor neuron death in spinal muscular atrophy mouse models
EQ-5D and SF-6D health utility scores in patients with spinal and bulbar muscular atrophy
Population WGS-based spinal muscular atrophy carrier screening in a cohort of 1076 healthy Polish individuals
A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl
In FUS[1-359]-tg mice O,S-dibenzoyl thiamine reduces muscle atrophy, decreases glycogen synthase kinase 3 beta, and normalizes the metabolome
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
Clinically relevant mouse models of Charcot-Marie-Tooth Type 2S
RNA-based drug discovery for Spinal Muscular Atrophy: a story of small molecules and antisense oligonucleotides
Significant healthcare burden and life cost of spinal muscular atrophy: real-world data
Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy
Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials
Calpain-mediated proteolysis as driver and modulator of polyglutamine toxicity
Celastrol and Rhynchophylline in the mitigation of simulated muscle atrophy under in vitro
Risdiplam for the Treatment of Adults with Spinal Muscular Atrophy: Experience of the Northern Ireland Neuromuscular Service
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era
Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study
A randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol
Kennedy’s disease presented with mastication fatigue combined with positive titin antibody: a case report
Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series
Clinical Trial to Assess the Safety and Efficacy of EXG001-307 in Patients With Spinal Muscular Atrophy Type 1
SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members
Late diagnosis of spinal muscular atrophy in a patient with Down syndrome
Anesthetic and surgical management of tracheotomy in a patient with Kennedy’s Disease
Risk factors for recurrent respiratory tract infections and acute respiratory failure in children with spinal muscular atrophy
Genetic and Clinical Spectrum of GNE Myopathy in Russia
Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology
Robust Generation of Ready-to-Use Cryopreserved Motor Neurons from Human Pluripotent Stem Cells for Disease Modeling
Switching therapies: safety profile of Onasemnogene abeparvovec-xioi in a SMA1 patient previously treated with Risdiplam
A link between agrin signalling and Cav 3.2 at the neuromuscular junction in spinal muscular atrophy
Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
Antibody-oligonucleotide conjugate achieves central nervous system delivery in animal models for spinal muscular atrophy
Budget Impact Analysis of Nusinersen for Spinal Muscular Atrophy in China
Spinal Muscular Atrophy: Family and Provider Perspectives
Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report
Biological networks and complexity in early-onset motor neuron diseases
Characteristics of paraspinal muscle degeneration in degenerative diseases of the lumbar spine at different ages
Value-Based Pricing for Patent-Protected Medicines Over the Product Life Cycle: Pricing Anomalies in the “Age of Cures” and Their Implications for Dynamic Efficiency
Treatment of hereditary amyotrophic lateral sclerosis
Long-term efficacy of nusinersen and its evaluation in adolescent and adult patients with spinal muscular atrophy types 1 and 2
The reimbursement for expensive medicines: stakeholder perspectives on the SMA medicine nusinersen and the Dutch Coverage Lock policy
Generation of FOUR iPSC lines (CRICKi004-A; CRICKi005-A; CRICKi006-A, CRICKi007-A) from Spinal muscle atrophy patients with lower extremity dominant (SMALED) phenotype
Advances and limitations for the treatment of spinal muscular atrophy
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile
Intravenous immunoglobulin prevents peripheral liver transduction of intrathecally delivered AAV vectors
Bridging the Gap: Gene Therapy in a Spinal Muscular Atrophy Type 1 Patient
Clinical follow-up analysis of multidisciplinary treatment of children with spinal muscular atrophy
Measurement Issue in Antecollis
New treatments in spinal muscular atrophy
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA
Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative
Gene Therapy for Neuromuscular Diseases: Health Economic Challenges and Future Perspectives
The effects of nusinersen treatment on respiratory status of children with spinal muscular atrophy
Microglia in motor neuron disease: Signaling evidence from last 10 years
Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature
Upper Extremity Examination for Neuromuscular Diseases (U-EXTEND): Protocol for a Multimodal Feasibility Study
Evaluation of Mean Percentage of Full-Length SMN Transcripts as a Molecular Biomarker of Spinal Muscular Atrophy
Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment
The Outcomes of Robotic Rehabilitation Assisted Devices Following Spinal Cord Injury and the Prevention of Secondary Associated Complications
Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy
SMN Is Physiologically Downregulated at Wild-Type Motor Nerve Terminals but Aggregates Together with Neurofilaments in SMA Mouse Models
CSF IL-8 Associated with Response to Gene Therapy in a Case Series of Spinal Muscular Atrophy
Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect
Emotional availability in mothers and their children with spinal muscular atrophy type 1 who require augmentative and alternative communication: a mixed-methods pilot study
The difficult path to diagnosis of the patient with spinal muscular atrophy
Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
Access to orphan drugs for the treatment of spinal muscular atrophy in Spain
Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
The role of ubiquitination in spinal and bulbar muscular atrophy
California’s experience with SMA newborn screening: A successful path to early intervention
The ethics of crowdfunding in paediatric neurology
Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France
Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study
Adeno-associated virus vector-based gene therapies for pediatric diseases
Anaesthetic management of severe scoliosis correction in spinal muscular atrophy, severe restrictive lung disease and difficult airway

Development of a functional composite for the evaluation of spinal and bulbar muscular atrophy
A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy
Corrigendum: The alteration of left ventricular strain in later-onset spinal muscular atrophy children
Exploratory evaluation of an eye-tracking system in patients with advanced spinal muscular atrophy type I receiving nusinersen
Early immunological responses to the mRNA SARS-CoV-2 vaccine in patients with neuromuscular disorders
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
New results for risdiplam in spinal muscular atrophy
3D synchrotron imaging of muscle tissues at different atrophic stages in stroke and spinal cord injury: a proof-of-concept study
Genetic distribution in Chinese patients with hereditary peripheral neuropathy
How children and caregivers viewed the change from nusinersen to risdiplam for treating spinal muscular atrophy
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease
Allocation of single-use drugs in children in global compassionate use programs
Cerebrospinal fluid characteristics of patients treated with intrathecal nusinersen for spinal muscular atrophy
Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy
Position-dependent effects of hnRNP A1/A2 in SMN1/2 exon7 splicing
Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy
Mexiletine in spinal and bulbar muscular atrophy: a randomized controlled trial
Retraction Note: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
A Case of Hirayama Disease Presenting Horn Hand: Spinal Horn Hand
Handgrip and finger flexion strength in children: A cross-sectional assessment of age-related normative data and application as a clinical functional marker in paediatric neuromuscular disorders
Respiratory Characteristics in Children with Spinal Muscular Atrophy Type 1 Receiving Nusinersen
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program
Using a robotic exoskeleton at home: An activity tolerance case study of a child with spinal muscular atrophy
Clinical Features of Female Carriers and Prodromal Male Patients With Spinal and Bulbar Muscular Atrophy
MRI correlates of motoneuron loss in SMA
Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen
Genetic studies in isolated bilateral clubfoot detected by prenatal ultrasound
Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes
Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy
Long-term Follow-up Study of Patients Receiving Onasemnogene Abeparvovec-xioi
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows
Mitochondrial Dysfunction in Spinal Muscular Atrophy
The Role of Sphingomyelin and Ceramide in Motor Neuron Diseases
Reliable virtual clinical assessment in spino-bulbar muscular atrophy (SBMA)
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy
Onasemnogene abeparvovec in type 1 spinal muscular atrophy: A systematic review and meta-analysis
Transcription and proteome changes involved in re-innervation muscle following nerve crush in rats
SMN controls neuromuscular junction integrity through U7 snRNP
Surgical treatment of spinal cord compression due to Hirayama disease: illustrative case
Hip Pain in Nonambulatory Children with Type-I or II Spinal Muscular Atrophy
New medicine for neuromuscular diseases: An evolving paradox for patient and family hopes and expectations
A small molecule antagonist of SMN disrupts the interaction between SMN and RNAP II
Risdiplam for spinal muscular atrophy
Onasemnogene abeparvovec for spinal muscular atrophy
Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI-FDA Meeting)
Serum leptin levels in children and adolescents with spinal muscular atrophy types 2 and 3✰
Adult Spinal Muscular Atrophy
Microvasculopathy in SMA is driven by a reversible autonomous endothelial cell defect
Medical treatment of patients with hypertrophic cardiomyopathy: An overview of current and emerging therapy
Mouse models of SMA show divergent patterns of neuronal vulnerability and resilience
Acquisition and Automated Segmentation of Inertia Sensor Data for Mobile Camptocormia Assessment
A method to identify, dissect and stain equine neuromuscular junctions for morphological analysis
Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model
Development of the Method for Nusinersen and Its Metabolites Identification in the Serum Samples of Children Treated with Spinraza for Spinal Muscular Atrophy
The Proteome Signatures of Fibroblasts from Patients with Severe, Intermediate and Mild Spinal Muscular Atrophy Show Limited Overlap
Single-cell RNA sequencing reveals dysregulation of spinal cord cell types in a severe spinal muscular atrophy mouse model
Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype
SAFETY AND TOLERABILITY OF STRENGTH TRAINING IN SPINAL AND BULBAR MUSCULAR ATROPHY: A CASE REPORT
Normal Development and Pathology of Motoneurons: Anatomy, Electrophysiological Properties, Firing Patterns and Circuit Connectivity
Motoneuron Diseases
The alteration of left ventricular strain in later-onset spinal muscular atrophy children
Comparison of trunk muscle exercises in supine position during short arm centrifugation with 1 g at centre of mass and upright in 1 g
Spinal muscular atrophy carrier frequency in Saudi Arabia
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 – extending the phenotype
Update on spinal muscular atrophy treatment
Alterations in insulin-like growth factor system in spinal muscular atrophy
Combination of modifying therapies in type 2 spinal muscular atrophy
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy
Association between serum zinc level and lipid profiles in children with spinal muscular atrophy
RESPIRATORY MUSCLE FATIGABILITY IN PATIENTS WITH SPINAL MUSCULAR ATROPHY
Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy
Expert consensus on rehabilitation management of the spinal muscular atrophy
Patientenpartizipation in der pädiatrischen Versorgungsforschung am Universitätsklinikum Freiburg: von der Projektbeteiligung zum Patientenbeirat
Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report
Nociceptive pain in adult patients with 5q-spinal muscular atrophy type 3: a cross-sectional clinical study
Real-world Adherence to Nusinersen in Adults with Spinal Muscular Atrophy in the US: A Multi-site Chart Review Study
History of development of the life-saving drug “Nusinersen” in spinal muscular atrophy
Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment
Investigating Attitudes Towards Prenatal Diagnosis and Fetal Therapy for Spinal Muscular Atrophy (SMA)
A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Of AJ201 In Patients
Pharmacotherapy for Spinal Muscular Atrophy in Babies and Children: A Review of Approved and Experimental Therapies
Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies
Transcript-Targeted Therapy Based on RNA Interference and Antisense Oligonucleotides: Current Applications and Novel Molecular Targets
Fingolimod Nanoemulsions at Different Particle Sizes Define the Fate of Spinal Cord Injury Recovery
The phospho-landscape of the survival of motoneuron protein (SMN) protein: relevance for spinal muscular atrophy (SMA)
A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review
Identification of UBA1 as the causative gene of an X-linked non-Kennedy SBMA
Suppression of the necroptotic cell death pathways improves survival in Smn 2B /- mice
The effect of age on psoas and paraspinal muscle morphology in patients undergoing posterior lumbar fusion surgery
Cost-effectiveness analysis of gene-based therapies for patients with spinal muscular atrophy type I in Australia
Timing is everything: Clinical evidence supports pre-symptomatic treatment for spinal muscular atrophy
Communicating the Spinal Muscular Atrophy diagnosis to children and the principle of autonomy
Gene therapy in neuromuscular disorders
Survival in patients diagnosed with SMA at less than 24 months of age in a population-based setting before, during and after introduction of nusinersen therapy. Experience from Sweden
Surgical treatment of spinal deformities in spinal muscular atrophy: a single-center experience from China
Treatment of spinal muscular atrophy patients among European countries: a call into action
Hirayama Disease: Case Report
The clinical characteristics of Hirayama disease in females
Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in The Netherlands
X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat

Cone-beam computed tomography guided nusinersen administrations in adult spinal muscular atrophy patients with challenging access: a single- center experience
Onasemnogene Abeparvovec: A Review in Spinal Muscular Atrophy
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Monomelic amyotrophy: a rare disease with unusual features (Hirayama disease)
Plasma neurofilament light chain in Chinese children with later-onset spinal muscular atrophy
Glial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy
Effect of Nusinersen treatment on motor functions in children and adolescents with spinal muscular atrophy who gave a break to physiotherapy during COVID-19 pandemic
The 2022 Lady Estelle Wolfson Lectureship on Neurofilaments
Opportunities for an early recognition of spinal muscular atrophy in primary care: a nationwide, population-based, study in Italy
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
Prevalence of Anti-AAV9 Antibodies in Adult Patients with Spinal Muscular Atrophy
Newborn screening for spinal muscular atrophy in Japan: One year of experience
Progress in spinal muscular atrophy research
Validation of Neuromyotype: A smart keyboard for the evaluation of spinal muscular atrophy patients
Artificial primary-miRNAs as a platform for simultaneous delivery of siRNA and antisense oligonucleotide for multimodal gene regulation
Spinal muscular atrophy
Spinal muscular atrophy
Hemophagocytic lymphohistiocytosis following gene replacement therapy in a child with type 1 spinal muscular atrophy
Allele-specific alternative splicing of Drosophila Ribosomal protein S21 suppresses a lethal mutation in the Phosphorylated adaptor for RNA export (Phax) gene
Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center
Neuromuscular denervation and deafferentation but not motor neuron death are disease features in the Smn2B/- mouse model of SMA
Spinal muscular atrophy presenting with mild limb-girdle weakness in adulthood: Diagnostic pitfalls in the era of disease-modifying therapies
Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
Expanding the phenotypic variability of MORC2 gene mutations: from Charcot Marie tooth disease to late-onset pure motor neuropathy
Clinical and Research Readiness for Spinal Muscular Atrophy: The Time Is Now for Knowledge Translation
Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice
Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations
Alternative Splicing in Human Biology and Disease
Internal Introns Promote Backsplicing to Generate Circular RNAs from Spinal Muscular Atrophy Gene
Targeted-Deletion of a Tiny Sequence via Prime Editing to Restore SMN Expression
Coaxial Synthesis of PEI-Based Nanocarriers of Encapsulated RNA-Therapeutics to Specifically Target Muscle Cells
Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
In Vitro Toxicity of Chinese Russell’s Viper (Daboia siamensis ) Venom and Neutralisation by Antivenoms
Accuracy of muscle fasciculations for the diagnosis of later-onset spinal muscle atrophy
Motor defects in a Drosophila model for spinal muscular atrophy result from SMN depletion during early neurogenesis
Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts’ study
The Effect of Nusinersen Therapy on Laboratory Parameters of Patients with Spinal Muscular Atrophy
Clinical-functional characterization of patients with spinal muscular atrophy in Central-Western Colombia
Ligand-free mitochondria-localized mutant AR-induced cytotoxicity in spinal bulbar muscular atrophy
Moxifloxacin rescues SMA phenotypes in patient-derived cells and animal model
Biomarkers of therapeutic efficacy in adolescents and adults with 5q spinal muscular atrophy: a systematic review
Editorial: Lessons Learned from Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation
Application of multiplex competitive PCR combined with capillary electrophoresis in carrier screening of spinal muscular atrophy
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
Allan-Herndon-Dudley syndrome: a diagnosis to rule out in any male infant with undiagnosed hypotonia
Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
Effects of ATLAS 2030 gait exoskeleton on strength and range of motion in children with spinal muscular atrophy II: a case series
Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs
Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children
SMN Enhances Pluripotent Genes Expression and Facilitates Cell Reprogramming
Structural Context of a Critical Exon of Spinal Muscular Atrophy Gene
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
Early treatment is a lifeline for infants with SMA
Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene
Risdiplam in Types 2 and 3 spinal muscular atrophy: a randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment
Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years
Post-dural puncture headache: a prospective study on incidence, risk factors, and clinical characterization of 285 consecutive procedures
Muscle quantitative MRI in adult SMA patients on nusinersen treatment: a longitudinal study
It’s time to measure disability in spinal muscular atrophy
Peripheral circulation disturbances in two consecutive children with spinal muscular atrophy and literature review
Biochemical and clinical biomarkers in adult SMA 3-4 patients treated with nusinersen for 22 months
Mid1 is associated with androgen-dependent axonal vulnerability of motor neurons in spinal and bulbar muscular atrophy
The Combined Efficacy of a Two-Year Period of Cybernic Treatment With a Wearable Cyborg Hybrid-Assistive Limb and Leuprorelin Therapy in a Patient With Spinal and Bulbar Muscular Atrophy: A Case Report
Skeletal Muscle Pathogenesis in Polyglutamine Diseases
Editorial Comment to Castration-resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy
Castration-resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy
264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021
Intrinsically disordered proteins and proteins with intrinsically disordered regions in neurodegenerative diseases
Improving efficacy of ASO therapy in SMA
Neuromuscular junction pathology is correlated with differential motor unit vulnerability in spinal and bulbar muscular atrophy
Real-world safety and effectiveness of nusinersen, a treatment for spinal muscular atrophy, in 401 Japanese patients: results from an interim analysis of post-marketing surveillance
R-loop Mediated DNA Damage and Impaired DNA Repair in Spinal Muscular Atrophy
Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene
Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report
Spinal Muscular Atrophy Type 1: Fetal Diagnosis, Prenatal Coordination, and Postnatal Management in the Era of Novel Therapies
Clinical follow-up analysis of nusinersen in the disease-modifying treatment of pediatric spinal muscular atrophy
Engineered U1 snRNAs to modulate alternatively spliced exons
Amifampridine safety and efficacy in spinal muscular atrophy ambulatory patients: a randomized, placebo-controlled, crossover phase 2 trial
Application of modern approaches in the screening and early diagnosis programs for the orphan diseases
The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever
Molecular Pathogenesis and New Therapeutic Dimensions for Spinal Muscular Atrophy
Reply to Aljabali et al. Comment on “Abbas et al. The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. Medicina 2022, 58 , 213”
Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy
Physical Therapy and Nusinersen Impact on Spinal Muscular Atrophy Rehabilitative Outcome
Comment on Abbas et al. The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. Medicina 2022, 58 , 213
Safety, tolerability, and efficacy of a widely available nusinersen program for Polish children with Spinal Muscular Atrophy
Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence
Juvenile muscular atrophy of the distal upper extremity (Hirayama syndrome): a systematic review
Inhibition of myostatin and related signaling pathways for the treatment of muscle atrophy in motor neuron diseases
Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy
Shenkang injection protects against renal fibrosis by reducing perforin expression through the STING/TBK1/IRF3 signaling pathways in natural killer cells
Combinatorial ASO-mediated therapy with low dose SMN and the protective modifier Chp1 is not sufficient to ameliorate SMA pathology hallmarks
Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies
Major advances in neuromuscular disorders in the past two decades
Children with spinal muscular atrophy have reduced vertebral body height, depth and pedicle size in comparison to age-matched healthy controls
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
Label-free morphological sub-population cytometry for sensitive phenotypic screening of heterogenous neural disease model cells

Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK
X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey
Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey
Cognitive profiles and clinical factors in type III spinal muscular atrophy: A preliminary study
The cost-effectiveness of newborn screening for spinal muscular atrophy
Systemic DNA/RNA heteroduplex oligonucleotide administration for regulating the gene expression of dorsal root ganglion and sciatic nerve
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
Modulation of DNA transcription: The future of ASO therapeutics?
Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy
Nusinersen treatment response markers
Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening
Effects of inhibitors of SLC9A-type sodium-protein exchangers on Survival Motor Neuron 2 (SMN2 ) mRNA splicing and expression
The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy patients: review of the literature and a meta-analysis
C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA)
Risk factors of tracheal extubation failure in children with spinal muscular atrophy combined with pneumonia
Multiple breath washout lung function reveals ventilation inhomogeneity unresponsive to mechanical assisted cough in patients with neuromuscular disease
Comprehensive analysis of spinal muscular atrophy (CASMA): SMN1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing
Mild androgen insensitivity syndrome: the current landscape
Therapeutic Decision-Making Under Uncertainty in the Management of Spinal Muscular Atrophy: Results From DECISIONS-SMA Study
Commentary: Current Status of Gene Therapy for Spinal Muscular Atrophy
DNAJB2 c.184C>T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy
A spectrum of recessiveness among Mendelian disease variants in UK Biobank
Impaired dynamic interaction of axonal endoplasmic reticulum and ribosomes contributes to defective stimulus-response in spinal muscular atrophy
Simultaneous quantification of SMN1 and SMN2 copy numbers by MALDI-TOF mass spectrometry for spinal muscular atrophy genetic testing
Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease – Case series and review
The Cure SMA Clinical Trial Experience Survey: A Study of Trial Participant Perspectives on Clinical Trial Management and Patient-Centric Management Practices
Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional Approach
Characteristics spinal and bulbar muscular atrophy in South Korea: a cross-sectional study of 157 patients
A Chemical Biology Perspective to Therapeutic Regulation of RNA Splicing in Spinal Muscular Atrophy (SMA)
Cas14a1-Mediated Nucleic Acid Diagnostics for Spinal Muscular Atrophy
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene
The Advent of Omics Sciences in Clinical Trials of Motor Neuron Diseases
The influence of tone on proximal femoral and acetabular geometry in neuromuscular hip displacement: A comparison of cerebral palsy and spinal muscular atrophy
Novel Use of Nusinersen as a Therapeutic Bridge to Onasemnogene Abeparvovec-xioi in a Premature Neonate with Type 1 Spinal Muscular Atrophy
Assessing Perspectives of Disease Burden and Clinically Meaningful Changes Using the Spinal Muscular Atrophy Health Index in Adolescents and Young Adults
SS-31 does not prevent or reduce muscle atrophy 7 days after a 65 kdyne contusion spinal cord injury in young male mice
Curing SMA: Are we there yet?
Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing
Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants
Clinical Utility of Repetitive Nerve Stimulation Test in Differentiating Multifocal Motor Neuropathy From Progressive Muscular Atrophy
Phase IIIb, Open-label, Multi-center Study to Evaluate Safety, Tolerability and Efficacy of OAV101 Administered Intrathecally to Participants With SMA Who Discontinued Treatment With Nusinersen or Risdiplam
A Comparative Study of a New Retractor-Assisted WILTSE TLIF, MIS-TLIF, and Traditional PLIF for Treatment of Single-Level Lumbar Degenerative Diseases
DYNC1H1 de novo mutation, spinal muscular atrophy and attention problems
Onasemnogene abeparvovec gene replacement therapy for the treatment of spinal muscular atrophy: a real-world observational study
Safety of Onasemnogene Abeparvovec for Patients With Spinal Muscular Atrophy 8.5 kg or Heavier in a Global Managed Access Program
Bap1/SMN axis in Dpp4+ skeletal muscle mesenchymal cells regulates the neuromuscular system
Effect of lumbar muscle atrophy on the mechanical loading change on lumbar intervertebral discs
Response of plasma microRNAs to nusinersen treatment in patients with SMA
Fatal Thrombotic Microangiopathy Case following Adeno-Associated Viral SMN Gene Therapy
Association of Brain Atrophy With Disease Progression Independent of Relapse Activity in Patients With Relapsing Multiple Sclerosis
A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients’ and caregivers’ perspectives
Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients
Stress granules in the spinal muscular atrophy and amyotrophic lateral sclerosis: The correlation and promising therapy
An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy
Advanced Gene-Targeting Therapies for Motor Neuron Diseases and Muscular Dystrophies
Scientific rationale for a higher dose of nusinersen
Identification and Characterization TSSK6 Activating Co-chaperone (TSACC) in Skeletal Muscle
Dysregulation of Skeletal Muscle Mitochondrial Turnover and Dynamics Occurs During Late Symptomatic Stages of Spinal Muscular Atrophy
Motor Unit Recovery Following Smn Restoration in Mouse Models of Spinal Muscular Atrophy
Expression profiles of protein markers regulating the mitochondrial lifecycle in skeletal muscle of acute spinal cord transected rats
Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report
NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression
Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data
The Global Burden of Motor Neuron Disease: An Analysis of the 2019 Global Burden of Disease Study
Longer-term follow-up of nusinersen efficacy and safety in adult patients with spinal muscular atrophy types 2 and 3
Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant
Respiratory outcome of spinal muscular atrophy type 1 patients treated with nusinersen
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis
Gene-based treatment in spinal muscular atrophy
François-Amilcar Aran (1817-1861) and the recognition of spinal muscular atrophy
Predictive models in SMA II natural history trajectories using machine learning: A proof of concept study
Exploring Motor Neuron Diseases Using iPSC Platforms
Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients
Fluid and White Matter Suppression: New Sensitive 3 T Magnetic Resonance Imaging Contrasts for Cortical Lesion Detection in Multiple Sclerosis
Culture of Human iPSC-Derived Motoneurons in Compartmentalized Microfluidic Devices and Quantitative Assays for Studying Axonal Phenotypes
Correction to: Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls
Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases
Adeno-associated virus serotype 9 antibody titers in patients with SMA pre-screened for treatment with onasemnogene abeparvovec -routine care evidence
Finger trembling improvement after surgery in Hirayama disease: a case report
Motor Unit and Capillary Recruitment During Fatiguing Arm-Cycling Exercise in Spinal Muscular Atrophy Types 3 and 4
Stability of Serial Platelet and Urine Protein Measurements in Patients Receiving Nusinersen for Spinal Muscular Atrophy
Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy
Acute Benign Myositis Following Onasemnogene Abeparvovec Therapy in Type 1 Spinal Muscular Atrophy
High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts
Inflammation and Oxidative Stress as Common Mechanisms of Pulmonary, Autonomic and Musculoskeletal Dysfunction after Spinal Cord Injury
‘This battle, between your gut feeling and your mind. Try to find the right balance’: Parental experiences of children with spinal muscular atrophy during COVID-19 pandemic
A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
Short-term effect of air stacking and mechanical insufflation-exsufflation on lung function in patients with neuromuscular diseases
SMN-deficient cells exhibit increased ribosomal DNA damage
Onasemnogene abeparvovec for the treatment of spinal muscular atrophy
Spinal Muscular Atrophy -Is Newborn Screening Too Late for Children with Two SMN2 Copies?
Pre-symptomatic spinal muscular atrophy: a proposed nosology
Spinal muscular atrophy: Surviving respiratory failure, intensive care and pursuing creatively fulfilled life
A combinatorial approach increases SMN level in SMA model mice
Small nerves are a distinguishing feature of spinal and bulbar muscular atrophy (SBMA)
Copy number assessment of SMN1 based on real-time PCR with high-resolution melting: fast and highly reliable testing
Acoustic Change Over Time in Spastic and/or Flaccid Dysarthria in Motor Neuron Diseases
Antisense Oligonucleotide Induction of the hnRNPA1b Isoform Affects Pre-mRNA Splicing of SMN2 in SMA Type I Fibroblasts