- 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
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- Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy
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- Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth
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- Safety and Efficacy of NMD670 in Ambulatory Adult Patients With Type 3 Spinal Muscular Atrophy
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- Editorial: Advances in spinal muscular atrophy
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- 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
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- 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
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- 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
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- The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations
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- Integrative genetic and single cell RNA sequencing analysis provides new clues to the amyotrophic lateral sclerosis neurodegeneration
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- Respiratory phenotypes in ALS as determined by respiratory questions of the ALSFRS-R and their relation to respiratory tests
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- 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
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- Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province
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- Presymptomatic spinal muscular atrophy: a cautionary approach to the proposed new terminology
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- 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)
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- 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
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- 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
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- 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
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- Assessing validity of the EQ-5D-5L proxy in children and adolescents with Duchenne muscular dystrophy or spinal muscular atrophy
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- A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of BIIB115
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- Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report
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- The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome
- Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients
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- 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
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- 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
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- 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
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- AAV vectors applied to the treatment of CNS disorders: Clinical status and challenges
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- 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
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- Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1
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- Bicalutamide and Trehalose Ameliorate Spinal and Bulbar Muscular Atrophy Pathology in Mice
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- 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
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- Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study
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- 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
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- 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
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- Commentary on “Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect”
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- Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4
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- 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
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- 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
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- 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
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- 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”
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- 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
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- 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
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- 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
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- Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
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- 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