Pending

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

Diverse targets of SMN2-directed splicing-modulating small molecule therapeutics for spinal muscular atrophy
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018
Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy
CHCHD2 and CHCHD10-related neurodegeneration: molecular pathogenesis and the path to precision therapy
Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth
ERK MAPK signaling pathway inhibition as a potential target to prevent autophagy alterations in Spinal Muscular Atrophy motoneurons
Structural and functional characterization of capsid binding by anti-AAV9 monoclonal antibodies from infants after SMA gene therapy
Safety and Efficacy of NMD670 in Ambulatory Adult Patients With Type 3 Spinal Muscular Atrophy
Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses
Elevated plasma p-tau181 levels unrelated to Alzheimer’s disease pathology in amyotrophic lateral sclerosis
Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study
Editorial: Advances in spinal muscular atrophy
Personalized treatment options for spinal muscular atrophy
The White Coat Cape: An Ethical Analysis of Emerging Therapies to Treat Spinal Muscular Atrophy
Treating neurodegenerative disease: Nusinersen and other therapeutic strategies for improved motor function
Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation
Base editing rescue of spinal muscular atrophy in cells and in mice
Update on drug treatment of spinal muscular atrophy
Carrier frequency of Spino-muscular atrophy in individuals of a reproductive age group from North India
Evolving regulatory perspectives on digital health technologies for medicinal product development
Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. Genes 2022, 13 , 2110
Orphan Drugs in Neurology-A Narrative Review
Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study
Subcutaneous Intrathecal Catheter and Port for Repetitive Nusinersen Administration
The RESISTANT study (Respiratory Muscle Training in Patients with Spinal Muscular Atrophy): study protocol for a randomized controlled trial
Intermolecular And Dynamic Investigation of The Mechanism of Action of Reldesemtiv on Fast Skeletal Muscle Troponin Complex Toward the Treatment of Impaired Muscle Function
Generation of functional posterior spinal motor neurons from hPSCs-derived human spinal cord neural progenitor cells
Review of economic modeling evidence from NICE appraisals of rare disease treatments for spinal muscular atrophy
Modern principles of therapy for patients with spinal muscular atrophy
Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients
A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture
Procedural Sedation for Pediatric Patients with Spinal Muscular Atrophy Undergoing Intrathecal Treatment
Ultrasound-enhanced brain delivery of edaravone provides additive amelioration on disease progression in an ALS mouse model
Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy
Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders
Neurodevelopmental defects as a primer of neurodegeneration: lessons from spinal muscular atrophy and Huntington’s disease
Spinal Muscular Atrophy: A New Frontier but the Same Old Boundaries
Spinal muscular atrophy and anorexia nervosa: a case report
Clinical features and pathogenesis of scoliosis due to spinal astrocytoma
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations
Human Neuromuscular Junction on a Chip: Impact of Amniotic Fluid Stem Cell Extracellular Vesicles on Muscle Atrophy and NMJ Integrity
Pathophysiology and Management of Fatigue in Neuromuscular Diseases
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry
Best practice recommendations for speech-language pathology in children with neuromuscular disorders: A Delphi-based consensus study
Reproductive findings in male animals exposed to selective survival of motor neuron-2 (SMN2) gene splicing modifying agents
Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers
Airway clearance in patients with neuromuscular disease
Variability in newborn screening across Canada: spinal muscular atrophy and beyond
The TUDOR domain of SMN is an H3K79me1 histone mark reader
A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy
Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation
Chemistry, structure and function of approved oligonucleotide therapeutics
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function
Pathways to healing: Plants with therapeutic potential for neurodegenerative diseases
Re-evaluation of the symptoms of Hirayama disease through anatomical perspective
SMN post-translational modifications in spinal muscular atrophy
Atypical Presentation of Hirayama Disease Involving the Cervico-Thoracic Segment Causing Diagnostic Dilemma: A Case Report
Integrative genetic and single cell RNA sequencing analysis provides new clues to the amyotrophic lateral sclerosis neurodegeneration
Prepare for the worst…Hope for the best
Respiratory phenotypes in ALS as determined by respiratory questions of the ALSFRS-R and their relation to respiratory tests
Longitudinal Assessment of Timed Function Tests Over Time in Ambulatory Individuals with SMA Treated with Nusinersen
Successful weaning from the invasive respiratory support after nusinersen treatment in a child with SMA type 1: A case report
Myopathic changes caused by protein aggregates in adult-onset spinal muscular atrophy
Editorial: Viral vector-based gene therapy in neurological disease: The future is now
A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses
Facial nerve vulnerability in spinal muscular atrophy and motor unit number index (MUNIX) of the orbicularis oculi muscle
Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province
Neuroinflammation in spinal muscular atrophy
Depression, anxiety and sleep quality of caregivers of children with spinal muscular atrophy
Presymptomatic spinal muscular atrophy: a cautionary approach to the proposed new terminology
Nusinersen for adults with spinal muscular atrophy
Treatment of spinal muscular atrophy with Onasemnogene Abeparvovec in Switzerland: a prospective observational case series study
Study of the Safety and Efficacy of an Adeno-Associated Viral Vector Carrying the SMN Gene After a Single Intravenous Administration of Escalating Doses in Children With Spinal Muscular Atrophy (BLUEBELL)
Early recognition, diagnosis and treatment of spinal muscular atrophy
Dysfunctional mitochondria accumulate in a skeletal muscle knockout model of Smn1, the causal gene of spinal muscular atrophy
Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy
Long-Term SMN – and Ncald -ASO Combinatorial Therapy in SMA Mice and NCALD -ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects
Sporadic Spinal-Onset Amyotrophic Lateral Sclerosis Associated with Myopathy in Three Unrelated Portuguese Patients
First Use of Non-Invasive Spinal Cord Stimulation in Motor Rehabilitation of Children with Spinal Muscular Atrophy
Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions
A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients
Comparison of Distal Spine Anchors and Distal Pelvic Anchors in Children With Hypotonic Neuromuscular Scoliosis Treated With Growth-friendly Instrumentation
Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study
Huntingtin-associated protein 1-associated intracellular trafficking in neurodegenerative diseases
Gene therapy for alpha-1 antitrypsin deficiency: an update
Gene Therapies in Motor Neuron Diseases ALS and SMA
Risdiplam in non-sitter patients aged 16 years and older with 5q spinal muscular atrophy
Gene therapy for selected neuromuscular and trinucleotide repeat disorders – An insight to subsume South Asia for multicenter clinical trials
Pain in Spinal Muscular Atrophy: A Questionnaire Study
Comprehensive assessment model for patients with spinal muscular atrophy: proposal of tools for clinical practice and real-world studies
Bibrachial Amyotrophy Due to Spontaneous Spinal Cerebrospinal Fluid Leak
Camptocormia as an Unusual Presenting Symptom of Myotonic Dystrophy Type 2: An Overlooked Cause of Axial Myopathy
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4
Assessing validity of the EQ-5D-5L proxy in children and adolescents with Duchenne muscular dystrophy or spinal muscular atrophy
Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany
A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of BIIB115
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial
Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis

Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report
Mechanisms of action and patentability of therapeutic oligonucleotides
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome
Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients
Sleep disorders in patients with neuromuscular diseases
Spinal Muscular Atrophy Treatment: The MTOR Regulatory Intervention
Economic evaluation of population-based expanded reproductive carrier screening for genetic diseases in Australia
User-perceived impact of long-term mechanical assisted cough in paediatric neurodisability
Plastin 3 rescues BDNF-TrkB signaling in spinal muscular atrophy
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study
Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy
Current attitudes toward carrier screening for spinal muscular atrophy among pregnant women in Eastern China
Depletion of plasma thymidine results in growth retardation and mitochondrial myopathy in mice overexpressing human thymidine phosphorylase
The SMN Complex at the Crossroad between RNA Metabolism and Neurodegeneration
SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular Atrophy
Evaluation of sputum cultures in children with spinal Muscular atrophy
An Overview of the Therapeutic Strategies for the Treatment of Spinal Muscular Atrophy
Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report
Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model
Cost-effectiveness of IVF with PGT-M/A to prevent transmission of spinal muscular atrophy in offspring of carrier couples
Neuromuscular junction disorders: Experimental models and pathophysiological mechanisms
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle
AAV vectors applied to the treatment of CNS disorders: Clinical status and challenges
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
Brain-protective mechanisms of autophagy associated circRNAs: Kick starting self-cleaning mode in brain cells via circRNAs as a potential therapeutic approach for neurodegenerative diseases
Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: A systematic review and meta-analysis
Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1
DG9-conjugated morpholino rescues phenotype in SMA mice by reaching the CNS via a subcutaneous administration
Bicalutamide and Trehalose Ameliorate Spinal and Bulbar Muscular Atrophy Pathology in Mice
Base editing as a genetic treatment for spinal muscular atrophy
Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing
Application of single sperm sequencing for the preimplantation genetic testing of a Chinese family affected with Spinal muscular atrophy
SHEAR WAVE ELASTOGRAPHY IN PATIENTS WITH SPINAL MUSCULAR ATROPHY TYPE 2-3
Antisense Oligonucleotide Therapeutics for Cystic Fibrosis: Recent Developments and Perspectives
Role of paraspinal muscle degeneration in the occurrence and recurrence of osteoporotic vertebral fracture: A meta-analysis
Assessment of motor function and nutritional status in children with spinal muscular atrophy treated with nusinersen after loading period in Western China: a retrospective study
Progress and challenges in directing the differentiation of human iPSCs into spinal motor neurons
An Integrated Physiotherapeutic Approach With Virtual Reality in Schizophrenic Patients With Ipsilateral Femoral Shaft and Intertrochanteric Fractures: A Case report
Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers-A Prospective, Cross-Sectional, Multi-Center Analysis
Electrical Stimulation for Preventing Skin Injuries in Denervated Gluteal Muscles-Promising Perspectives from a Case Series and Narrative Review
Gene Therapy in ALS and SMA: Advances, Challenges and Perspectives
Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing
Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study
Newborn screening for spinal muscular atrophy
Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy
Dysphagia and Lung Disease in Children With Spinal Muscular Atrophy Treated With Disease Modifying Agents
Diminished motor neuron activity driven by abnormal astrocytic EAAT1 glutamate transporter activity in spinal muscular atrophy is not fully restored after lentiviral SMN delivery
Inpatient rehab admission for a patient with spinal muscular atrophy status post gene therapy
Criterion validity of the spatial exploration test of upper limb mobility to evaluate the active horizontal workspace of children with spinal muscular atrophy
Nusinersen treatment in a type 3 spinal muscular atrophy patient during early pregnancy
Examining Real-World Adherence to Nusinersen for the Treatment of Spinal Muscular Atrophy Using Two Large US Data Sources
Progress in Clinical Gene Therapy for Cardiac Disorders
Anxiety in children with SMA – An underestimated problem
Commentary on “Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect”
DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum
Needleless inhaled anesthesia with sevoflurane: advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen
Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4
NeuroLINCS Proteomics: Defining human-derived iPSC proteomes and protein signatures of pluripotency
Inherited myopathy plus: Double-trouble from rare neuromuscular disorders
Synthetic Biology Design as a Paradigm Shift toward Manufacturing Affordable Adeno-Associated Virus Gene Therapies
Hybrid reflected-ultrasound computed tomography versus B-mode-ultrasound for muscle scoring in spinal muscular atrophy
Effects of the Jokela Type of Spinal Muscular Atrophy-Related G66V Mutation on the Structural Ensemble Characteristics of CHCHD10
Adeno-associated virus vector intraperitoneal injection induces colonic mucosa and submucosa transduction and alters the diversity and composition of the faecal microbiota in rats
Parents’ dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1
Survival motor neuron protein and neurite degeneration are regulated by Gemin3 in spinal muscular atrophy motoneurons
General movements in spinal muscular atrophy type 1
Usefulness of YouTube in Sharing Information about New Gene Therapy for Spinal Muscular Atrophy: A Content Analysis
Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function
Plastin 3 rescues cell surface translocation and activation of TrkB in spinal muscular atrophy
Biodistribution of adeno-associated virus gene therapy following CSF-directed administration
Psychometric Evaluation of modified Spinal Muscular Atrophy Functional Rating Scale (SMAFRS) in adult patients using Rasch Analysis
Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China
Utility estimations of different health states of patients with type I, II, and III spinal muscular atrophy in China: A mixed approach study with patient and proxy-reported data
Correlation between atrophy of the gluteus medius muscle and symptoms of lumbar spinal stenosis
SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis
Agonist of growth hormone-releasing hormone improves the disease features of spinal muscular atrophy mice
Management of Critically Ill Patients With Spinal Muscular Atrophy Admitted With Acute Respiratory Failure
Cerebral Aβ deposition in an Aβ-precursor protein-transgenic rhesus monkey
The length of uninterrupted CAG repeats in stem regions of repeat disease associated hairpins determines the amount of short CAG oligonucleotides that are toxic to cells through RNA interference
The roles of HSP40/DNAJ protein family in neurodegenerative diseases
Addressing the implementation gap in advanced therapeutics for spinal muscular atrophy in the era of newborn screening programs
Metabolic assessment in children with neuromuscular disorders shows risk of liver enlargement, steatosis, and fibrosis
Feasibility of Intrathecal Therapeutic Injections in Spinal Muscular Atrophy Patients via a Percutaneous Trans-Sacral Hiatus Route: An Initial Neuroimaging Morphometric Study
Genetics and”democracy”
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study
Behavioral problems in infants and young children with spinal muscular atrophy and their siblings: A cross-sectional study
Prospective Analysis of Functional and Structural Changes in Patients with Spinal Muscular Atrophy-A Pilot Study
Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening
Social Media as a Source of Knowledge about Gene Therapy for Spinal Muscular Atrophy
Communication of the Diagnosis of Spinal Muscular Atrophy in the Views of Patients and Family Members, a Qualitative Analysis
Spinal Irisin Gene Delivery Attenuates Burn Injury-Induced Muscle Atrophy by Promoting Axonal Myelination and Innervation of Neuromuscular Junctions
Spinal Cord Injury Causes Marked Tissue Rearrangement in the Urethra-Experimental Study in the Rat
Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders
Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1
Tissue Engineering Applied to Skeletal Muscle: Strategies and Perspectives

Current treatments of spinal muscular atrophy in adults
Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement
Disease Burden in Children With Spinal Muscular Atrophy: Results From a Large Cross-Sectional Study
A Breakthrough Effect of Gene Replacement Therapy on Respiratory Outcomes in Children with Spinal Muscular Atrophy
Adherence and Persistence to Nusinersen for Spinal Muscular Atrophy: A US Claims-Based Analysis
Patient Reported Outcome Measures in Adult Spinal Muscular Atrophy: A Scoping Review and Graphical Visualization of the Evidence
Inflammatory markers in cerebrospinal fluid of paediatric spinal muscular atrophy patients receiving nusinersen treatment
Room to improve: The diagnostic journey of Spinal Muscular Atrophy
The Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA): Protocol for a Longitudinal Observational Study
Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2
Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1-3 patients treated with nusinersen
Electromagnetic field stimulation facilitates motor neuron excitability, myogenesis and muscle contractility in spinal cord transected rats
Thoracic Jia-Ji electro-acupuncture mitigates low skeletal muscle atrophy and improves motor function recovery following thoracic spinal cord injury in rats
Analysis of scores of Symptom Checklist 90 (SCL-90) questionnaire of 182 parents of children with spinal muscular atrophy: a cross-sectional study
The quality of life in children with spinal muscular atrophy: a case-control study
Open-labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study
Newborn screening and gene therapy in SMA: Challenges related to vaccinations
NSC Physiological Features in Spinal Muscular Atrophy: SMN Deficiency Effects on Neurogenesis
Prospects for gene replacement therapies in amyotrophic lateral sclerosis
Perceived Exertion is not a Substitute for Fatiguability in Spinal Muscular Atrophy
ABT1 modifies SMARD1 pathology via interactions with IGHMBP2 and stimulation of ATPase and helicase activity
ALS Regional Variants (Brachial Amyotrophic Diplegia and Amyotrophic Leg Diplegia): Still A Diagnostic Challenge in Neurology
Thoracolumbar Sacral Orthosis for Spinal Fractures: What’s the Evidence and Do Patients Use Them?
A severely affected adult type 2 spinal muscular atrophy patient treated with risdiplam
A pediatric quantitative systems pharmacology model of neurofilament trafficking in spinal muscular atrophy treated with the antisense oligonucleotide nusinersen
A comparative analysis of body composition assessment by BIA and DXA in children with type II and III spinal muscular atrophy
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey
Muscle impairment in MRI affect variability in treatment response to nusinersen in patients with spinal muscular atrophy type 2 and 3: A retrospective cohort study
Assessment of health-related quality of life in patients with spina muscular atrophy in China
Long term follow-up of scoliosis progression in type II SMA patients
Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions
Costs and Utilization of New-to-Market Neurologic Medications
Changes in UK paediatric long-term ventilation practice over 10 years
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases
Polysomnography findings in children with spinal muscular atrophy after onasemnogene-abeparvovec
Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea
Correction: Systematic review and meta-analysis determining the benefits of in vivo genetic therapy in spinal muscular atrophy rodent models
Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab-ONYX
Expanding the spectrum of TBK1-related disorders: Adult-onset non-5q spinal muscular atrophy
PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
Novel Three-Holed Titanium Plate Fixation during Open Door Laminoplasty for Cervical Spondylotic Myelopathy: Comparison with Conventional Titanium Plate
p53-dependent c-Fos expression is a marker but not executor for motor neuron death in spinal muscular atrophy mouse models
EQ-5D and SF-6D health utility scores in patients with spinal and bulbar muscular atrophy
Population WGS-based spinal muscular atrophy carrier screening in a cohort of 1076 healthy Polish individuals
A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl
In FUS[1-359]-tg mice O,S-dibenzoyl thiamine reduces muscle atrophy, decreases glycogen synthase kinase 3 beta, and normalizes the metabolome
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
Clinically relevant mouse models of Charcot-Marie-Tooth Type 2S
RNA-based drug discovery for Spinal Muscular Atrophy: a story of small molecules and antisense oligonucleotides
Significant healthcare burden and life cost of spinal muscular atrophy: real-world data
Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy
Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials
Calpain-mediated proteolysis as driver and modulator of polyglutamine toxicity
Celastrol and Rhynchophylline in the mitigation of simulated muscle atrophy under in vitro
Risdiplam for the Treatment of Adults with Spinal Muscular Atrophy: Experience of the Northern Ireland Neuromuscular Service
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era
Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study
A randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol
Kennedy’s disease presented with mastication fatigue combined with positive titin antibody: a case report
Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series
Clinical Trial to Assess the Safety and Efficacy of EXG001-307 in Patients With Spinal Muscular Atrophy Type 1
SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members
Late diagnosis of spinal muscular atrophy in a patient with Down syndrome
Anesthetic and surgical management of tracheotomy in a patient with Kennedy’s Disease
Risk factors for recurrent respiratory tract infections and acute respiratory failure in children with spinal muscular atrophy
Genetic and Clinical Spectrum of GNE Myopathy in Russia
Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology
Robust Generation of Ready-to-Use Cryopreserved Motor Neurons from Human Pluripotent Stem Cells for Disease Modeling
Switching therapies: safety profile of Onasemnogene abeparvovec-xioi in a SMA1 patient previously treated with Risdiplam
A link between agrin signalling and Cav 3.2 at the neuromuscular junction in spinal muscular atrophy
Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
Antibody-oligonucleotide conjugate achieves central nervous system delivery in animal models for spinal muscular atrophy
Budget Impact Analysis of Nusinersen for Spinal Muscular Atrophy in China
Spinal Muscular Atrophy: Family and Provider Perspectives
Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report
Biological networks and complexity in early-onset motor neuron diseases
Characteristics of paraspinal muscle degeneration in degenerative diseases of the lumbar spine at different ages
Value-Based Pricing for Patent-Protected Medicines Over the Product Life Cycle: Pricing Anomalies in the “Age of Cures” and Their Implications for Dynamic Efficiency
Treatment of hereditary amyotrophic lateral sclerosis
Long-term efficacy of nusinersen and its evaluation in adolescent and adult patients with spinal muscular atrophy types 1 and 2
The reimbursement for expensive medicines: stakeholder perspectives on the SMA medicine nusinersen and the Dutch Coverage Lock policy
Generation of FOUR iPSC lines (CRICKi004-A; CRICKi005-A; CRICKi006-A, CRICKi007-A) from Spinal muscle atrophy patients with lower extremity dominant (SMALED) phenotype
Advances and limitations for the treatment of spinal muscular atrophy
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile
Intravenous immunoglobulin prevents peripheral liver transduction of intrathecally delivered AAV vectors
Bridging the Gap: Gene Therapy in a Spinal Muscular Atrophy Type 1 Patient
Clinical follow-up analysis of multidisciplinary treatment of children with spinal muscular atrophy
Measurement Issue in Antecollis
New treatments in spinal muscular atrophy
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA
Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative
Gene Therapy for Neuromuscular Diseases: Health Economic Challenges and Future Perspectives
The effects of nusinersen treatment on respiratory status of children with spinal muscular atrophy
Microglia in motor neuron disease: Signaling evidence from last 10 years
Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature
Upper Extremity Examination for Neuromuscular Diseases (U-EXTEND): Protocol for a Multimodal Feasibility Study
Evaluation of Mean Percentage of Full-Length SMN Transcripts as a Molecular Biomarker of Spinal Muscular Atrophy

Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment
The Outcomes of Robotic Rehabilitation Assisted Devices Following Spinal Cord Injury and the Prevention of Secondary Associated Complications
Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy
SMN Is Physiologically Downregulated at Wild-Type Motor Nerve Terminals but Aggregates Together with Neurofilaments in SMA Mouse Models
CSF IL-8 Associated with Response to Gene Therapy in a Case Series of Spinal Muscular Atrophy
Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect
Emotional availability in mothers and their children with spinal muscular atrophy type 1 who require augmentative and alternative communication: a mixed-methods pilot study
The difficult path to diagnosis of the patient with spinal muscular atrophy
Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
Access to orphan drugs for the treatment of spinal muscular atrophy in Spain
Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
The role of ubiquitination in spinal and bulbar muscular atrophy
California’s experience with SMA newborn screening: A successful path to early intervention
The ethics of crowdfunding in paediatric neurology
Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France
Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study
Adeno-associated virus vector-based gene therapies for pediatric diseases
Anaesthetic management of severe scoliosis correction in spinal muscular atrophy, severe restrictive lung disease and difficult airway
Development of a functional composite for the evaluation of spinal and bulbar muscular atrophy
A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy
Corrigendum: The alteration of left ventricular strain in later-onset spinal muscular atrophy children
Exploratory evaluation of an eye-tracking system in patients with advanced spinal muscular atrophy type I receiving nusinersen
Early immunological responses to the mRNA SARS-CoV-2 vaccine in patients with neuromuscular disorders
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
New results for risdiplam in spinal muscular atrophy
3D synchrotron imaging of muscle tissues at different atrophic stages in stroke and spinal cord injury: a proof-of-concept study
Genetic distribution in Chinese patients with hereditary peripheral neuropathy
How children and caregivers viewed the change from nusinersen to risdiplam for treating spinal muscular atrophy
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease
Allocation of single-use drugs in children in global compassionate use programs
Cerebrospinal fluid characteristics of patients treated with intrathecal nusinersen for spinal muscular atrophy
Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy
Position-dependent effects of hnRNP A1/A2 in SMN1/2 exon7 splicing
Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy
Mexiletine in spinal and bulbar muscular atrophy: a randomized controlled trial
Retraction Note: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
A Case of Hirayama Disease Presenting Horn Hand: Spinal Horn Hand
Handgrip and finger flexion strength in children: A cross-sectional assessment of age-related normative data and application as a clinical functional marker in paediatric neuromuscular disorders
Respiratory Characteristics in Children with Spinal Muscular Atrophy Type 1 Receiving Nusinersen
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program
Using a robotic exoskeleton at home: An activity tolerance case study of a child with spinal muscular atrophy
Clinical Features of Female Carriers and Prodromal Male Patients With Spinal and Bulbar Muscular Atrophy
MRI correlates of motoneuron loss in SMA
Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen
Genetic studies in isolated bilateral clubfoot detected by prenatal ultrasound
Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes
Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy
Long-term Follow-up Study of Patients Receiving Onasemnogene Abeparvovec-xioi
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows
Mitochondrial Dysfunction in Spinal Muscular Atrophy
The Role of Sphingomyelin and Ceramide in Motor Neuron Diseases
Reliable virtual clinical assessment in spino-bulbar muscular atrophy (SBMA)
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy
Onasemnogene abeparvovec in type 1 spinal muscular atrophy: A systematic review and meta-analysis
Transcription and proteome changes involved in re-innervation muscle following nerve crush in rats
SMN controls neuromuscular junction integrity through U7 snRNP
Surgical treatment of spinal cord compression due to Hirayama disease: illustrative case
Hip Pain in Nonambulatory Children with Type-I or II Spinal Muscular Atrophy
New medicine for neuromuscular diseases: An evolving paradox for patient and family hopes and expectations
A small molecule antagonist of SMN disrupts the interaction between SMN and RNAP II
Risdiplam for spinal muscular atrophy
Onasemnogene abeparvovec for spinal muscular atrophy
Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI-FDA Meeting)
Serum leptin levels in children and adolescents with spinal muscular atrophy types 2 and 3✰
Adult Spinal Muscular Atrophy
Microvasculopathy in SMA is driven by a reversible autonomous endothelial cell defect
Medical treatment of patients with hypertrophic cardiomyopathy: An overview of current and emerging therapy
Mouse models of SMA show divergent patterns of neuronal vulnerability and resilience
Acquisition and Automated Segmentation of Inertia Sensor Data for Mobile Camptocormia Assessment
A method to identify, dissect and stain equine neuromuscular junctions for morphological analysis
Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model
Development of the Method for Nusinersen and Its Metabolites Identification in the Serum Samples of Children Treated with Spinraza for Spinal Muscular Atrophy
The Proteome Signatures of Fibroblasts from Patients with Severe, Intermediate and Mild Spinal Muscular Atrophy Show Limited Overlap
Single-cell RNA sequencing reveals dysregulation of spinal cord cell types in a severe spinal muscular atrophy mouse model
Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype
SAFETY AND TOLERABILITY OF STRENGTH TRAINING IN SPINAL AND BULBAR MUSCULAR ATROPHY: A CASE REPORT
Normal Development and Pathology of Motoneurons: Anatomy, Electrophysiological Properties, Firing Patterns and Circuit Connectivity
Motoneuron Diseases
The alteration of left ventricular strain in later-onset spinal muscular atrophy children
Comparison of trunk muscle exercises in supine position during short arm centrifugation with 1 g at centre of mass and upright in 1 g
Spinal muscular atrophy carrier frequency in Saudi Arabia
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 – extending the phenotype
Update on spinal muscular atrophy treatment
Alterations in insulin-like growth factor system in spinal muscular atrophy
Combination of modifying therapies in type 2 spinal muscular atrophy
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy
Association between serum zinc level and lipid profiles in children with spinal muscular atrophy
RESPIRATORY MUSCLE FATIGABILITY IN PATIENTS WITH SPINAL MUSCULAR ATROPHY
Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy
Expert consensus on rehabilitation management of the spinal muscular atrophy
Patientenpartizipation in der pädiatrischen Versorgungsforschung am Universitätsklinikum Freiburg: von der Projektbeteiligung zum Patientenbeirat
Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report
Nociceptive pain in adult patients with 5q-spinal muscular atrophy type 3: a cross-sectional clinical study
Real-world Adherence to Nusinersen in Adults with Spinal Muscular Atrophy in the US: A Multi-site Chart Review Study
History of development of the life-saving drug “Nusinersen” in spinal muscular atrophy
Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment
Investigating Attitudes Towards Prenatal Diagnosis and Fetal Therapy for Spinal Muscular Atrophy (SMA)
A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Of AJ201 In Patients
Pharmacotherapy for Spinal Muscular Atrophy in Babies and Children: A Review of Approved and Experimental Therapies

Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies
Transcript-Targeted Therapy Based on RNA Interference and Antisense Oligonucleotides: Current Applications and Novel Molecular Targets
Fingolimod Nanoemulsions at Different Particle Sizes Define the Fate of Spinal Cord Injury Recovery
The phospho-landscape of the survival of motoneuron protein (SMN) protein: relevance for spinal muscular atrophy (SMA)
A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review
Identification of UBA1 as the causative gene of an X-linked non-Kennedy SBMA
Suppression of the necroptotic cell death pathways improves survival in Smn 2B /- mice
The effect of age on psoas and paraspinal muscle morphology in patients undergoing posterior lumbar fusion surgery
Cost-effectiveness analysis of gene-based therapies for patients with spinal muscular atrophy type I in Australia
Timing is everything: Clinical evidence supports pre-symptomatic treatment for spinal muscular atrophy
Communicating the Spinal Muscular Atrophy diagnosis to children and the principle of autonomy
Gene therapy in neuromuscular disorders
Survival in patients diagnosed with SMA at less than 24 months of age in a population-based setting before, during and after introduction of nusinersen therapy. Experience from Sweden
Surgical treatment of spinal deformities in spinal muscular atrophy: a single-center experience from China
Treatment of spinal muscular atrophy patients among European countries: a call into action
Hirayama Disease: Case Report
The clinical characteristics of Hirayama disease in females
Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in The Netherlands
X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat
Cone-beam computed tomography guided nusinersen administrations in adult spinal muscular atrophy patients with challenging access: a single- center experience
Onasemnogene Abeparvovec: A Review in Spinal Muscular Atrophy
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Monomelic amyotrophy: a rare disease with unusual features (Hirayama disease)
Plasma neurofilament light chain in Chinese children with later-onset spinal muscular atrophy
Glial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy
Effect of Nusinersen treatment on motor functions in children and adolescents with spinal muscular atrophy who gave a break to physiotherapy during COVID-19 pandemic
The 2022 Lady Estelle Wolfson Lectureship on Neurofilaments
Opportunities for an early recognition of spinal muscular atrophy in primary care: a nationwide, population-based, study in Italy
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
Prevalence of Anti-AAV9 Antibodies in Adult Patients with Spinal Muscular Atrophy
Newborn screening for spinal muscular atrophy in Japan: One year of experience
Progress in spinal muscular atrophy research
Validation of Neuromyotype: A smart keyboard for the evaluation of spinal muscular atrophy patients
Artificial primary-miRNAs as a platform for simultaneous delivery of siRNA and antisense oligonucleotide for multimodal gene regulation
Spinal muscular atrophy
Spinal muscular atrophy
Hemophagocytic lymphohistiocytosis following gene replacement therapy in a child with type 1 spinal muscular atrophy
Allele-specific alternative splicing of Drosophila Ribosomal protein S21 suppresses a lethal mutation in the Phosphorylated adaptor for RNA export (Phax) gene
Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center
Neuromuscular denervation and deafferentation but not motor neuron death are disease features in the Smn2B/- mouse model of SMA
Spinal muscular atrophy presenting with mild limb-girdle weakness in adulthood: Diagnostic pitfalls in the era of disease-modifying therapies
Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
Expanding the phenotypic variability of MORC2 gene mutations: from Charcot Marie tooth disease to late-onset pure motor neuropathy
Clinical and Research Readiness for Spinal Muscular Atrophy: The Time Is Now for Knowledge Translation
Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice
Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations
Alternative Splicing in Human Biology and Disease
Internal Introns Promote Backsplicing to Generate Circular RNAs from Spinal Muscular Atrophy Gene
Targeted-Deletion of a Tiny Sequence via Prime Editing to Restore SMN Expression
Coaxial Synthesis of PEI-Based Nanocarriers of Encapsulated RNA-Therapeutics to Specifically Target Muscle Cells
Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
In Vitro Toxicity of Chinese Russell’s Viper (Daboia siamensis ) Venom and Neutralisation by Antivenoms
Accuracy of muscle fasciculations for the diagnosis of later-onset spinal muscle atrophy
Motor defects in a Drosophila model for spinal muscular atrophy result from SMN depletion during early neurogenesis
Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts’ study
The Effect of Nusinersen Therapy on Laboratory Parameters of Patients with Spinal Muscular Atrophy
Clinical-functional characterization of patients with spinal muscular atrophy in Central-Western Colombia
Ligand-free mitochondria-localized mutant AR-induced cytotoxicity in spinal bulbar muscular atrophy
Moxifloxacin rescues SMA phenotypes in patient-derived cells and animal model
Biomarkers of therapeutic efficacy in adolescents and adults with 5q spinal muscular atrophy: a systematic review
Editorial: Lessons Learned from Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation
Application of multiplex competitive PCR combined with capillary electrophoresis in carrier screening of spinal muscular atrophy
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
Allan-Herndon-Dudley syndrome: a diagnosis to rule out in any male infant with undiagnosed hypotonia
Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
Effects of ATLAS 2030 gait exoskeleton on strength and range of motion in children with spinal muscular atrophy II: a case series
Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs
Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children
SMN Enhances Pluripotent Genes Expression and Facilitates Cell Reprogramming
Structural Context of a Critical Exon of Spinal Muscular Atrophy Gene
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
Early treatment is a lifeline for infants with SMA
Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene
Risdiplam in Types 2 and 3 spinal muscular atrophy: a randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment
Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years
Post-dural puncture headache: a prospective study on incidence, risk factors, and clinical characterization of 285 consecutive procedures
Muscle quantitative MRI in adult SMA patients on nusinersen treatment: a longitudinal study
It’s time to measure disability in spinal muscular atrophy
Peripheral circulation disturbances in two consecutive children with spinal muscular atrophy and literature review
Biochemical and clinical biomarkers in adult SMA 3-4 patients treated with nusinersen for 22 months
Mid1 is associated with androgen-dependent axonal vulnerability of motor neurons in spinal and bulbar muscular atrophy
The Combined Efficacy of a Two-Year Period of Cybernic Treatment With a Wearable Cyborg Hybrid-Assistive Limb and Leuprorelin Therapy in a Patient With Spinal and Bulbar Muscular Atrophy: A Case Report
Skeletal Muscle Pathogenesis in Polyglutamine Diseases
Editorial Comment to Castration-resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy
Castration-resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy
264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021
Intrinsically disordered proteins and proteins with intrinsically disordered regions in neurodegenerative diseases
Improving efficacy of ASO therapy in SMA
Neuromuscular junction pathology is correlated with differential motor unit vulnerability in spinal and bulbar muscular atrophy
Real-world safety and effectiveness of nusinersen, a treatment for spinal muscular atrophy, in 401 Japanese patients: results from an interim analysis of post-marketing surveillance
R-loop Mediated DNA Damage and Impaired DNA Repair in Spinal Muscular Atrophy
Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene
Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report
Spinal Muscular Atrophy Type 1: Fetal Diagnosis, Prenatal Coordination, and Postnatal Management in the Era of Novel Therapies
Clinical follow-up analysis of nusinersen in the disease-modifying treatment of pediatric spinal muscular atrophy
Engineered U1 snRNAs to modulate alternatively spliced exons
Amifampridine safety and efficacy in spinal muscular atrophy ambulatory patients: a randomized, placebo-controlled, crossover phase 2 trial
Application of modern approaches in the screening and early diagnosis programs for the orphan diseases

The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever
Molecular Pathogenesis and New Therapeutic Dimensions for Spinal Muscular Atrophy
Reply to Aljabali et al. Comment on “Abbas et al. The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. Medicina 2022, 58 , 213”
Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy
Physical Therapy and Nusinersen Impact on Spinal Muscular Atrophy Rehabilitative Outcome
Comment on Abbas et al. The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. Medicina 2022, 58 , 213
Safety, tolerability, and efficacy of a widely available nusinersen program for Polish children with Spinal Muscular Atrophy
Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence
Juvenile muscular atrophy of the distal upper extremity (Hirayama syndrome): a systematic review
Inhibition of myostatin and related signaling pathways for the treatment of muscle atrophy in motor neuron diseases
Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy
Shenkang injection protects against renal fibrosis by reducing perforin expression through the STING/TBK1/IRF3 signaling pathways in natural killer cells
Combinatorial ASO-mediated therapy with low dose SMN and the protective modifier Chp1 is not sufficient to ameliorate SMA pathology hallmarks
Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies
Major advances in neuromuscular disorders in the past two decades
Children with spinal muscular atrophy have reduced vertebral body height, depth and pedicle size in comparison to age-matched healthy controls
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
Label-free morphological sub-population cytometry for sensitive phenotypic screening of heterogenous neural disease model cells
Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK
X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey
Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey
Cognitive profiles and clinical factors in type III spinal muscular atrophy: A preliminary study
The cost-effectiveness of newborn screening for spinal muscular atrophy
Systemic DNA/RNA heteroduplex oligonucleotide administration for regulating the gene expression of dorsal root ganglion and sciatic nerve
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
Modulation of DNA transcription: The future of ASO therapeutics?
Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy
Nusinersen treatment response markers
Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening
Effects of inhibitors of SLC9A-type sodium-protein exchangers on Survival Motor Neuron 2 (SMN2 ) mRNA splicing and expression
The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy patients: review of the literature and a meta-analysis
C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA)
Risk factors of tracheal extubation failure in children with spinal muscular atrophy combined with pneumonia
Multiple breath washout lung function reveals ventilation inhomogeneity unresponsive to mechanical assisted cough in patients with neuromuscular disease
Comprehensive analysis of spinal muscular atrophy (CASMA): SMN1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing
Mild androgen insensitivity syndrome: the current landscape
Therapeutic Decision-Making Under Uncertainty in the Management of Spinal Muscular Atrophy: Results From DECISIONS-SMA Study
Commentary: Current Status of Gene Therapy for Spinal Muscular Atrophy
DNAJB2 c.184C>T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy
A spectrum of recessiveness among Mendelian disease variants in UK Biobank
Impaired dynamic interaction of axonal endoplasmic reticulum and ribosomes contributes to defective stimulus-response in spinal muscular atrophy
Simultaneous quantification of SMN1 and SMN2 copy numbers by MALDI-TOF mass spectrometry for spinal muscular atrophy genetic testing
Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease – Case series and review
The Cure SMA Clinical Trial Experience Survey: A Study of Trial Participant Perspectives on Clinical Trial Management and Patient-Centric Management Practices
Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional Approach
Characteristics spinal and bulbar muscular atrophy in South Korea: a cross-sectional study of 157 patients
A Chemical Biology Perspective to Therapeutic Regulation of RNA Splicing in Spinal Muscular Atrophy (SMA)
Cas14a1-Mediated Nucleic Acid Diagnostics for Spinal Muscular Atrophy
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene
The Advent of Omics Sciences in Clinical Trials of Motor Neuron Diseases
The influence of tone on proximal femoral and acetabular geometry in neuromuscular hip displacement: A comparison of cerebral palsy and spinal muscular atrophy
Novel Use of Nusinersen as a Therapeutic Bridge to Onasemnogene Abeparvovec-xioi in a Premature Neonate with Type 1 Spinal Muscular Atrophy
Assessing Perspectives of Disease Burden and Clinically Meaningful Changes Using the Spinal Muscular Atrophy Health Index in Adolescents and Young Adults
SS-31 does not prevent or reduce muscle atrophy 7 days after a 65 kdyne contusion spinal cord injury in young male mice
Curing SMA: Are we there yet?
Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing
Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants
Clinical Utility of Repetitive Nerve Stimulation Test in Differentiating Multifocal Motor Neuropathy From Progressive Muscular Atrophy
Phase IIIb, Open-label, Multi-center Study to Evaluate Safety, Tolerability and Efficacy of OAV101 Administered Intrathecally to Participants With SMA Who Discontinued Treatment With Nusinersen or Risdiplam
A Comparative Study of a New Retractor-Assisted WILTSE TLIF, MIS-TLIF, and Traditional PLIF for Treatment of Single-Level Lumbar Degenerative Diseases
DYNC1H1 de novo mutation, spinal muscular atrophy and attention problems
Onasemnogene abeparvovec gene replacement therapy for the treatment of spinal muscular atrophy: a real-world observational study
Safety of Onasemnogene Abeparvovec for Patients With Spinal Muscular Atrophy 8.5 kg or Heavier in a Global Managed Access Program
Bap1/SMN axis in Dpp4+ skeletal muscle mesenchymal cells regulates the neuromuscular system
Effect of lumbar muscle atrophy on the mechanical loading change on lumbar intervertebral discs
Response of plasma microRNAs to nusinersen treatment in patients with SMA
Fatal Thrombotic Microangiopathy Case following Adeno-Associated Viral SMN Gene Therapy
Association of Brain Atrophy With Disease Progression Independent of Relapse Activity in Patients With Relapsing Multiple Sclerosis
A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients’ and caregivers’ perspectives
Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients
Stress granules in the spinal muscular atrophy and amyotrophic lateral sclerosis: The correlation and promising therapy
An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy
Advanced Gene-Targeting Therapies for Motor Neuron Diseases and Muscular Dystrophies
Scientific rationale for a higher dose of nusinersen
Identification and Characterization TSSK6 Activating Co-chaperone (TSACC) in Skeletal Muscle
Dysregulation of Skeletal Muscle Mitochondrial Turnover and Dynamics Occurs During Late Symptomatic Stages of Spinal Muscular Atrophy
Motor Unit Recovery Following Smn Restoration in Mouse Models of Spinal Muscular Atrophy
Expression profiles of protein markers regulating the mitochondrial lifecycle in skeletal muscle of acute spinal cord transected rats
Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report
NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression
Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data
The Global Burden of Motor Neuron Disease: An Analysis of the 2019 Global Burden of Disease Study
Longer-term follow-up of nusinersen efficacy and safety in adult patients with spinal muscular atrophy types 2 and 3
Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant
Respiratory outcome of spinal muscular atrophy type 1 patients treated with nusinersen
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis
Gene-based treatment in spinal muscular atrophy
François-Amilcar Aran (1817-1861) and the recognition of spinal muscular atrophy
Predictive models in SMA II natural history trajectories using machine learning: A proof of concept study
Exploring Motor Neuron Diseases Using iPSC Platforms
Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients
Fluid and White Matter Suppression: New Sensitive 3 T Magnetic Resonance Imaging Contrasts for Cortical Lesion Detection in Multiple Sclerosis
Culture of Human iPSC-Derived Motoneurons in Compartmentalized Microfluidic Devices and Quantitative Assays for Studying Axonal Phenotypes
Correction to: Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls
Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases
Adeno-associated virus serotype 9 antibody titers in patients with SMA pre-screened for treatment with onasemnogene abeparvovec -routine care evidence
Finger trembling improvement after surgery in Hirayama disease: a case report

Motor Unit and Capillary Recruitment During Fatiguing Arm-Cycling Exercise in Spinal Muscular Atrophy Types 3 and 4
Stability of Serial Platelet and Urine Protein Measurements in Patients Receiving Nusinersen for Spinal Muscular Atrophy
Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy
Acute Benign Myositis Following Onasemnogene Abeparvovec Therapy in Type 1 Spinal Muscular Atrophy
High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts
Inflammation and Oxidative Stress as Common Mechanisms of Pulmonary, Autonomic and Musculoskeletal Dysfunction after Spinal Cord Injury
‘This battle, between your gut feeling and your mind. Try to find the right balance’: Parental experiences of children with spinal muscular atrophy during COVID-19 pandemic
A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
Short-term effect of air stacking and mechanical insufflation-exsufflation on lung function in patients with neuromuscular diseases
SMN-deficient cells exhibit increased ribosomal DNA damage
Onasemnogene abeparvovec for the treatment of spinal muscular atrophy
Spinal Muscular Atrophy -Is Newborn Screening Too Late for Children with Two SMN2 Copies?
Pre-symptomatic spinal muscular atrophy: a proposed nosology
Spinal muscular atrophy: Surviving respiratory failure, intensive care and pursuing creatively fulfilled life
A combinatorial approach increases SMN level in SMA model mice
Small nerves are a distinguishing feature of spinal and bulbar muscular atrophy (SBMA)
Copy number assessment of SMN1 based on real-time PCR with high-resolution melting: fast and highly reliable testing
Acoustic Change Over Time in Spastic and/or Flaccid Dysarthria in Motor Neuron Diseases
Antisense Oligonucleotide Induction of the hnRNPA1b Isoform Affects Pre-mRNA Splicing of SMN2 in SMA Type I Fibroblasts
SMN loss dysregulates microtubule-associated proteins in spinal muscular atrophy model
Multivalent DNA and nucleosome acidic patch interactions specify VRK1 mitotic localization and activity
Distribution of Weight, Stature and Growth Status in Children and Adolescents with Spinal Muscular Atrophy: An Observational Retrospective Study in the United States
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Health-related quality of life in Thai children with spinal muscular atrophy
Postural abnormalities in Asian and Caucasian Parkinson’s disease patients: A multicenter study
Survival motor neuron protein deficiency alters microglia reactivity
Protein Network Analysis Reveals a Functional Connectivity of Dysregulated Processes in ALS and SMA
Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)
Psychosocial impact of the COVID-19 pandemic and shielding in adults and children with early-onset neuromuscular and neurological disorders and their families: a mixed-methods study
Treatment of Adult Spinal Muscular Atrophy: Overview and Recent Developments
Child Neurology: Pathologically Confirmed Thrombotic Microangiopathy Caused by Onasemnogene Abeparvovec Treatment for Spinal Muscular Atrophy
Public participation: healthcare rationing in the newspaper media
Spinal Muscular Atrophy Therapeutics in India: Parental Hopes and Despair!
Epaxial muscle atrophy is more evident in large dogs with intervertebral disc disease than in dogs with ischaemic myelopathy
Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome
Activating ATF6 in Spinal Muscular Atrophy promotes SMN expression and motor neuron survival through the IRE1alpha-XBP1 pathway
The 4-copy conundrum in the treatment of infants with spinal muscular atrophy
Stathmins and Motor Neuron Diseases: Pathophysiology and Therapeutic Targets
Single-Dose Intrathecal Dorsal Root Ganglia Toxicity of Onasemnogene Abeparvovec in Cynomolgus Monkeys
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes
Reply to: The 4-copy conundrum in the treatment of infants with spinal muscular atrophy
Transforaminal lumbar puncture for spinal anesthesia or novel drug administration: a technique combining C-arm fluoroscopy and ultrasound
Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy
Risdiplam: an investigational motor neuron-2 (SMN-2) splicing modifier for spinal muscular atrophy (SMA)
Fatigue and activity-dependent conduction block in neuromuscular disorders
Disruption of Smn in glia impacts survival but has no effect on neuromuscular function in Drosophila
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese
Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy
Respiratory management of Spinal Muscular Atrophy type 1 patients treated with Nusinersen
Spinal muscular atrophy and the world’s most expensive medicines: The price of life
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
Characteristics and feasibility of ambulatory respiratory assessment of paediatric neuromuscular disease: an observational retrospective study
Reflex single-gene non-invasive prenatal testing is associated with markedly better detection of fetuses affected with single-gene recessive disorders at lower cost
The clinical utility of a risk-modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity
Antisense therapies in neurological diseases
Risdiplam: A Review in Spinal Muscular Atrophy
Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial
ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature
Affection of Respiratory Muscles in ALS and SMA
Zinc finger protein ZPR1: promising survival motor neuron protein-dependent modifier for the rescue of spinal muscular atrophy
Antisense Oligonucleotide Therapy: From Design to the Huntington Disease Clinic
Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy
Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay
Quantitative and Morphological Assessment of Computed Tomography-depicted Gynecomastia in Spinal and Bulbar Muscular Atrophy
An orally available, brain penetrant, small molecule lowers huntingtin levels by enhancing pseudoexon inclusion
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus)
Ultrasonographic evaluation reveals thinning of cervical nerve roots and peripheral nerves in spinal and bulbar muscular atrophy
Neurological symptoms and disorders following electrical injury: A register-based matched cohort study
Novel roles of phentolamine in protecting axon myelination, muscle atrophy, and functional recovery following nerve injury
SMA type 2 and 3 improvements over 2 years
General Anesthesia With Successful Immediate Post-operative Extubation for Sarcoma Excision in a 61-Year-Old Male With Kennedy’s Disease
New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study
Ethical aspects of the changing landscape for spinal muscular atrophy management in Australia
Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA
Management of Spinal Muscular Atrophy in the Adult Population
Correction to: Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)
A Case Report of Systemic Intoxication Following Onabotulinum Toxin A Injections Into the Salivary Glands in a Patient With Spinal Muscular Atrophy Type 1
Inhibition of Polyglutamine Misfolding with D-Enantiomeric Peptides Identified by Mirror Image Phage Display Selection
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
A Comprehensive Review of Neuromuscular Manifestations of COVID-19 and Management of Pre-Existing Neuromuscular Disorders in Children
The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials
Recent research on the treatment of spinal muscular atrophy
Correction to: Dramatic Innovations in the Treatment of Spinal Muscular Atrophy, But Many Unknowns Remain
Parents’ Perspectives on Diagnosis and Decision-Making regarding Ventilator Support in Children with SMA Type 1
Interfering RNA and antisense oligonucleotide treatments currently available in France: an update
Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy
Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study
Access to Innovative Neurological Drugs in Europe: Alignment of Health Technology Assessments Among Three European Countries
Body of Evidence for Onasemnogene Abeparvovec in Spinal Muscular Atrophy Supports Long-Term Duration of Effect Without Relapse
Spinal Muscular Atrophy Type IIIb Complicated by Moyamoya Syndrome: A Case Report and Literature Review
Nusinersen in Adults with 5q Spinal Muscular Atrophy: a Systematic Review and Meta-analysis
How to reconstruct the lordosis of cervical spine in patients with Hirayama disease? A finite element analysis of biomechanical changes focusing on adjacent segments after anterior cervical discectomy and fusion
Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy
Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol
Restoring SMN Expression: An Overview of the Therapeutic Developments for the Treatment of Spinal Muscular Atrophy
A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy

Induction of Survival of Motor Neuron (SMN) Protein Deficiency in Spinal Astrocytes by Small Interfering RNA as an In Vitro Model of Spinal Muscular Atrophy
Hip Pain in Patients With Spinal Muscular Atrophy: Prevalence, Intensity, Interference, and Factors Associated With Moderate to Severe Pain
Newborn infant screening for spinal muscular atrophy: Chances and challenges
Reverse split hand syndrome and distinctive spine imaging features in Hirayama disease
Ultrasound-guided transforaminal approach for nusinersen delivery in adult spinal muscle atrophy patients with challenging access
A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland
Spinal muscular atrophy type 2 patient who survived 61 years: an autopsy case report
Assessment of Health-Related Quality of Life in Adult Spinal Muscular Atrophy Under Nusinersen Treatment-A Pilot Study
Single-Tube Multiplex Digital Polymerase Chain Reaction Assay for Molecular Diagnosis and Prediction of Severity of Spinal Muscular Atrophy
Oral hygiene in patients with motor neuron disease: a cross-sectional survey
J wave syndromes in patients with spinal and bulbar muscular atrophy
Assessing the Value of Nusinersen for Spinal Muscular Atrophy: A Comparative Analysis of Reimbursement Submission and Appraisal in European Countries
A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)
Patients’ access to rare neuromuscular disease therapies varies across US private insurers
Newborn screening for spinal muscular atrophy: The Wisconsin first year experience
Biomarkers of disease progression in adolescents and adults with 5q spinal muscular atrophy: a systematic review and meta-analysis
A Patient-Centered Evaluation of Meaningful Change on the 32-Item Motor Function Measure in Spinal Muscular Atrophy Using Qualitative and Quantitative Data
Gene Therapy for Rare Neurological Disorders
Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen
Is treatment with oral risdiplam effective and well-tolerated for infants with spinal muscular atrophy type 1?
The changing therapeutic landscape of spinal muscular atrophy
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families
Nerve ultrasound detects abnormally small nerves in patients with Spinal and Bulbar Muscular Atrophy
Viral mediated knockdown of GATA6 in SMA iPSC-derived astrocytes prevents motor neuron loss and microglial activation
Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA
Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy
Computed Tomography-Guided Lumbar Puncture: Advantages and Disadvantages
Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model
Expert consensus on preimplantation genetic testing for spinal muscular atrophy
Targeting Alternative Splicing as Adjunctive Treatment in EML4-ALK v3a/b+ NSCLC: Knowing Our Socratic Paradox and Learning From Spinal Muscular Atrophy
Evaluation of vestibular-evoked myogenic potential for functional integrity of the brain stem in Kennedy’s disease
Protocol-driven early tracheal extubation in patients with flaccid neuromuscular scoliosis and pre-existing lung disease
Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis
Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders
Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients
Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study
Multi-modal MR imaging of the upper arm muscles of patients with Spinal Muscular Atrophy
Body mass index in type 2 spinal muscular atrophy: a longitudinal study
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4
How does risdiplam compare with other treatments for Types 1-3 spinal muscular atrophy: a systematic literature review and indirect treatment comparison
Spinal muscular atrophy
Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era
Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report
Short-term clinical outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy
Muscle “islands”: An MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness
Optimization of Long-Term Human iPSC-Derived Spinal Motor Neuron Culture Using a Dendritic Polyglycerol Amine-Based Substrate
Vitamin K Deficiency in the Setting of Blenderized Tube Feeding Regimen in a Teenager: A Case Report
The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia
The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs
Case report of pregnancy management and genetic evaluation after negative carrier screening for spinal muscular atrophy in an affected family
Nusinersen treatment in adults with severe spinal muscular atrophy: A real-life retrospective observational cohort study
Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene
Application Value of the Motor Unit Number Index in Patients With Kennedy Disease
Advances in research on biomarkers for spinal muscular atrophy
Potential Applications for Targeted Gene Therapy to Protect Against Anthracycline Cardiotoxicity: JACC: CardioOncology Primer
Spinal Muscular Atrophy Patient iPSC-Derived Motor Neurons Display Altered Proteomes at Early Stages of Differentiation
Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders
Pharmacological and clinical profile of Onasemnogene Aveparvovec, the first gene therapy for spinal muscular atrophy (SMA)
Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients
Early diagnosis of spinal muscular atrophy
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes
Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen
Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome
Genetic architecture of motor neuron diseases
Family, healthcare professional, and societal preferences for the treatment of infantile spinal muscular atrophy: a discrete choice experiment
Correction to: Nusinersen: A Review in 5q Spinal Muscular Atrophy
Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy
Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity
Coverage of genetic therapies for spinal muscular atrophy across fee-for-service Medicaid programs
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
Mortality in Neuromuscular Early Onset Scoliosis Following Spinal Deformity Surgery
Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls
Dramatic Innovations in the Treatment of Spinal Muscular Atrophy, But Many Unknowns Remain
Increased use of genetic health care in Iceland 2012-2017
Sleep breathing disorders in pediatric patients with spinal muscular atrophy 2
Non-Respiratory Complications of Nusinersen-Treated Spinal Muscular Atrophy Type 1
Assessment of cerebral spinal fluid biomarkers and microRNA-mediated disease mechanisms in spinal muscular atrophy patient samples
Protein network analysis to prioritize key genes in amyotrophic lateral sclerosis
Systematic Literature Review to Identify Utility Values in Patients with Spinal Muscular Atrophy (SMA) and Their Caregivers
Epidemiology, healthcare resource utilization and healthcare costs for spinal muscular atrophy in Alberta, Canada
Phase 3 Active Treatment Trial to Evaluate the Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Who Are Being Treated With Nusinersen or Risdiplam
KLF15 overexpression in myocytes fails to ameliorate ALS-related pathology or extend the lifespan of SOD1G93A mice
Development of the SMA independence scale-upper limb module (SMAIS-ULM): A novel scale for individuals with Type 2 and non-ambulant Type 3 SMA
[CASE REPORT] Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: a case report
Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
Patient and Caregiver Treatment Preferences in Type 2 and Non-ambulatory Type 3 Spinal Muscular Atrophy: A Discrete Choice Experiment Survey in Five European Countries
Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease
Peripherally delivered Adeno-associated viral vectors for spinal cord injury repair
Splicing efficiency of minor introns in a mouse model of SMA predominantly depends on their branchpoint sequence and can involve the contribution of major spliceosome components
Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model
Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I
Intellectual skills and speech abilities in children with SMA type 1
The SMA France national registry: already encouraging results
Fusionless spine instrumentations in neuromuscular scoliosis
Identification of specific gene methylation patterns during motor neuron differentiation from spinal muscular atrophy patient-derived iPSC
Anaesthetic considerations in posterior instrumentation of scoliosis due to spinal muscular atrophy: Case series of 56 operated patients
A case series of paediatric patients with spinal muscular atrophy type I undergoing scoliosis correction surgery
The economic impact of compassionate use of medicines
Implications of circulating neurofilamentsfor spinal muscular atrophytreatment early in life: A case series

Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients
7′,5′-alpha-bicyclo-DNA: new chemistry for oligonucleotide exon splicing modulation therapy
Nusinersen: A Review in 5q Spinal Muscular Atrophy
Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay
Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme
Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series
Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism
Central synaptopathy is the most conserved feature of motor circuit pathology across spinal muscular atrophy mouse models
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
A tale of two diseases: spinal muscular atrophy and Pompe disease
Use of prescriber requirements among US commercial health plans
Real-world safety of nusinersen in Japan: results from an interim analysis of a post-marketing surveillance and safety database
Cell Penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model
Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets
De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms
Spinal Muscular Atrophy with Respiratory Distress
Type 1: A Novel Variant of IGHMBP2 Gene
A novel CARM1-HuR axis involved in muscle differentiation and plasticity misregulated in spinal muscular atrophy
Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophy
Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report
Models for IGHMBP2-associated diseases: an overview and a roadmap for the future
Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen
Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated with Nusinersen
Wheelchair Hockey improves neuromuscular patients’ well-being
Evaluating Efficacy of Peptide-Delivered Oligonucleotides Using the Severe Taiwanese SMA Mouse Model
Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management
A Study to Investigate the Safety and Efficacy of RO7204239 in Combination With Risdiplam (RO7034067) in Ambulatory Children With Spinal Muscular Atrophy
Indoprofen exerts a potent therapeutic effect against sepsis by alleviating high mobility group box 1-mediated inflammatory responses
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study
Structurally Mapping Antigenic Epitopes of Adeno-Associated Virus 9: Development of Antibody Escape Variants
Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening
Mechanisms and Treatments in Demyelinating CMT
Wearable Robots: An Original Mechatronic Design of a Hand Exoskeleton for Assistive and Rehabilitative Purposes
The Antisense Oligonucleotide Nusinersen for Treatment of Spinal Muscular Atrophy
Risdiplam for the Use of Spinal Muscular Atrophy
Neurogenic arthrogryposis and the power of phenotyping
Spinal muscular atrophy: from rags to riches
Organotypic spinal cord cultures: An in vitro 3D model to preliminary screen treatments for spinal muscular atrophy
Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study
Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick Turn
The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects
Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy
Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis
Natural history of spinal muscular atrophy in children: an analysis of 117 cases
Camptocormia as the main manifestation of a mutation in the POLG gene
Nusinersen for Spinal Muscular Atrophy in the United States: Findings From a Retrospective Claims Database Analysis
Treatment with L-Citrulline in patients with post-polio syndrome: A single center, randomized, double blind, placebo-controlled trial
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review
Real-time MR tracking of AAV gene therapy with βgal-responsive MR probe in a murine model of GM1-gangliosidosis
Genetic screening techniques and diseases for neonatal genetic diseases
Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord
A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M ) in Als Patients with Pure Lower Motor Neuron Presentation
Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots
Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents
A Machine-Learning Method of Predicting Vital Capacity Plateau Value for Ventilatory Pump Failure Based on Data Mining
Methodological challenges in measuring meaningful change in individuals with spinal muscular atrophy
Efficacy and Safety of Intrathecal OAV101 (AVXS-101) in Pediatric Patients With Type 2 Spinal Muscular Atrophy (SMA)
Enhanced pro-BDNF-p75NTR pathway activity in denervated skeletal muscle
Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases
Generation of DMBi002-A human induced pluripotent stem cell line from patient with Spinal muscular atrophy type 3
(1)H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
Spinal muscular atrophy: epidemiology and health burden in children – a Polish national healthcare database perspective before introduction of SMA-specific treatment
Capsid-Engineering for Central Nervous System-Directed Gene Therapy with Adeno-Associated Virus Vectors
Preferences and Utilities for Treatment Attributes in Type 2 and Non-ambulatory Type 3 Spinal Muscular Atrophy in the United Kingdom
Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)
Continuous noninvasive ventilatory support outcomes for patients with neuromuscular disease: a multicenter data collaboration
Gene Therapy Approach with an Emphasis on Growth Factors: Theoretical and Clinical Outcomes in Neurodegenerative Diseases
Newborn screening program for spinal muscular atrophy
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis
Targeting the RNA-Binding Protein HuR as Potential Thera-Peutic Approach for Neurological Disorders: Focus on Amyo-Trophic Lateral Sclerosis (ALS), Spinal Muscle Atrophy (SMA) and Multiple Sclerosis
Antisense oligonucleotides: absorption, distribution, metabolism, and excretion
Gene Replacement Therapy for Spinal Muscular Atrophy Unmasking Occult Hepatitis C in a Pediatric Patient
Regulation of Survival Motor Neuron Gene Expression by Calcium Signaling
Intravenous Tranexamic Acid Reduces Blood Loss and Transfusion Volume in Scoliosis Surgery for Spinal Muscular Atrophy: Results of a 20-Year Retrospective Analysis
Hybrid versus total sublaminar wires in patients with spinal muscular atrophy undergoing scoliosis surgery
Hirayama Disease in a Patient with a History of Late-Onset Symptomatic Vein of Galen Aneurysmal Malformation
Hyper-SUMOylation of SMN induced by SENP2 deficiency decreases its stability and leads to spinal muscular atrophy-like pathology
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
Addressing today’s ADME challenges in the translation of in vitro absorption, distribution, metabolism and excretion characteristics to human: A case study of the SMN2 mRNA splicing modifier risdiplam
Effect of the COVID-19 Pandemic on Children With SMA Receiving Nusinersen: What Is Missed and What Is Gained?
Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year
Newborn screening of neuromuscular diseases
Systematic review and meta-analysis determining the benefits of in vivo genetic therapy in spinal muscular atrophy rodent models
A Study to Evaluate Higher Dose (HD) Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Previously Treated With Risdiplam
Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue
Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy
Electrodiagnostic Assessment of Motor Neuron Disease
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
Motor Neuron Diseases and Neuroprotective Peptides: A Closer Look to Neurons
Interactive effect of sarcopenia and falls on vertebral osteoporotic fracture in patients with rheumatoid arthritis
Polyminimyoclonus in Hirayama disease
Cognitive Impairment in Adult Patients with 5q-Associated Spinal Muscular Atrophy
Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen
Alternative Splicing Role in New Therapies of Spinal Muscular Atrophy
CSF Diagnostics: A Potentially Valuable Tool in Neurodegenerative and Inflammatory Disorders Involving Motor Neurons: A Review
Generation of Human Motor Units with Functional Neuromuscular Junctions in Microfluidic Devices
Louis Duménil (1823-1890), surgeon and pioneer in neurology
What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions
Spinal Muscular Atrophy: A Potential Target for in Utero Therapy
Neuromuscular Diseases Affect Number Representation and Processing: An Exploratory Study
Defining the optimal dose and therapeutic window in SMA with respiratory distress type I model mice, FVB/NJ-Ighmpb2 nmd-2J