Pending

Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial
Short-duration splice promoting compound enables a tunable mouse model of spinal muscular atrophy
Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy
Respiratory Complications of Pediatric Neuromuscular Diseases
Advances in Treatments in Muscular Dystrophies and Motor Neuron Disorders
Economic burden of spinal muscular atrophy: an analysis of claims data
Impact of a national population-based carrier-screening program on spinal muscular atrophy births
Chronic pharmacological increase of neuronal activity improves sensory-motor dysfunction in spinal muscular atrophy mice
Correlates of fatigability in patients with spinal muscular atrophy
Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases
Disorders of sleep in spinal and bulbar muscular atrophy (Kennedy’s disease)
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies
Increased C-X-C Motif Chemokine Ligand 12 Levels in Cerebrospinal Fluid as a Candidate Biomarker in Sporadic Amyotrophic Lateral Sclerosis
First Oral Drug Approved for Spinal Muscular Atrophy
Spinal Muscular Atrophy With Exaggerated Deep Tendon Reflexes and Scapular Winging: An Atypical Presentation
Sleep and Breathing After Nusinersen Therapy in a Child With Spinal Muscular Atrophy
Functional abnormalities of cerebellum and motor cortex in spinal muscular atrophy mice
Persistent Pseudomonas Aeruginosa infection associated with non-invasive ventilation in a child with spinal muscular atrophy type 1
Corrigendum to: Pharmacologically-induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset
Unusual inclusions in cerebrospinal fluid macrophages of spinal muscular atrophy patients treated with nusinersen
Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project
Disease Acceptance and Eudemonic Well-Being Among Adults With Physical Disabilities: The Mediator Effect of Meaning in Life
Bioinformatic analysis of SMN1-ACE/ACE2 interactions hinted at a potential protective effect of spinal muscular atrophy against COVID-19-induced lung injury
Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1
Pediatric neuromuscular disorders: Care considerations during the COVID-19 pandemic
Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy
The characteristics of self-care in children with spinal muscular atrophy: an integrative review
Early experiences of Nusinersen for the Treatment of Spinal Muscular Atrophy: Results from a large survey of patients and caregivers
Treatment of patients with spinal muscular atrophy 5q: Towards a new protocol
Efficacy and costs of spinal muscular atrophy drugs
Repeat RNA expansion disorders of the nervous system: post-transcriptional mechanisms and therapeutic strategies
Deubiquitinase USP7 contributes to the pathogenicity of spinal and bulbar muscular atrophy
Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings
Cervical rotation, chest deformity and pelvic obliquity in patients with spinal muscular atrophy
A Rare Case of a Primary Spinal Solitary Fibrous Tumor/Hemangiopericytoma in a 9-Month-Old Patient
Epigenetics of neuromuscular disorders
A Single Amino Acid Residue Regulates PTEN-Binding and Stability of the Spinal Muscular Atrophy Protein SMN
Defective minor spliceosomes induce SMA-associated phenotypes through sensitive intron-containing neural genes in Drosophila
A case of Isaacs’ syndrome associated with spinal muscular atrophy
High-throughput screening reveals novel mutations in spinal muscular atrophy patients
SMN protein promotes membrane compartmentalization of ribosomal protein S6 transcript in human fibroblasts
Nusinersen in type 0 spinal muscular atrophy: should we treat?
SMN Protein Contributes to Skeletal Muscle Cell Maturation Via Caspase-3 and Akt Activation
ATP7A mutation with occipital horns and distal motor Neuropathy: a continuum
Mid-term results of a modified self-growing rod technique for the treatment of early-onset scoliosis
Management of Rare Causes of Pediatric Chronic Respiratory Failure
Real-world respiratory and bulbar comorbidities of SMA type 1 children treated with nusinersen: 2-Year single centre Australian experience
Current and emerging therapies for Duchenne muscular dystrophy and spinal muscular atrophy
Outcomes in type 1 spinal muscular atrophy on nusinersen: A single center experience
Translating Molecular Technologies into Routine Newborn Screening Practice
Combination molecular therapies for SMA: How much is enough?
Assessment of respiratory muscles and motor function in children with SMA treated by Nusinersen
Precision Medicine in Neurology: The Inspirational Paradigm of Complement Therapeutics
Pre-Symptomatic Study of Intravenous Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2
Adaptive skills and mental health in children and adolescents with neuromuscular diseases
Nusinersen for Spinal Muscular Atrophy Type 1: Real-World Respiratory Experience
Modulating the ER stress response attenuates neurodegeneration in a C. elegans model of spinal muscular atrophy
Motor unit gains in treated spinal muscular atrophy patients
Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen
Cell-Based Therapy for Spinal Muscular Atrophy
The Cure SMA Membership Surveys: Highlights of Key Demographic and Clinical Characteristics of Individuals with Spinal Muscular Atrophy
Neurotrophic Properties of C-Terminal Domain of the Heavy Chain of Tetanus Toxin on Motor Neuron Disease
The Respiratory Impact of Novel Therapies for Spinal Muscular Atrophy
Multicenter Experience with Nusinersen Application via an Intrathecal Port and Catheter System in Spinal Muscular Atrophy
Clinical and Radiological Profile of patients with Spinal Muscular Atrophy type 4
Expression of huntingtin-associated protein 1 in adult mouse dorsal root ganglia and its neurochemical characterization in reference to sensory neuron subpopulations
Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice
Rectal Prolapse After Laparoscopically Assisted Anorectoplasty for Anorectal Malformations
A Case of Cervical Spondylotic Amyotrophy Mimicking Amyotrophic Lateral Sclerosis
Brain MRI abnormalities in a child with spinal muscular atrophy type II
Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy
A Drug-drug Interaction Study With Risdiplam Multiple Dose and Midazolam in Healthy Participants
Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A
Conditional deletion of SMN in cell culture identifies functional SMN alleles
Novel TRPV4 mutation in a large Chinese family with congenital distal spinal muscular atrophy, skeletal dysplasia and scaly skin
Survival motor neuron protein regulates oxidative stress and inflammatory response in microglia of the spinal cord in spinal muscular atrophy
Insulin-like growth factor-1 status is associated with insulin resistance in young patients with spinal muscular atrophy
Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models
Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA
A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study
Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences
Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots
Synthetically Engineered Adeno-Associated Virus for Efficient, Safe, and Versatile Gene Therapy Applications
Beyond the Traditional Clinical Trials for Amyotrophic Lateral Sclerosis and The Future Impact of Gene Therapy
Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center Experience
Our initial experiences with intravenous gene therapy for spinal muscular atrophy in children
Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study
Electrodiagnostic Evaluation Of Motor Neuron Disease
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing & Follow-up Recommendations
Discovery of a CNS penetrant small molecule SMN2 splicing modulator with improved tolerability for spinal muscular atrophy
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
Prolonged distal latency of the median motor nerve is associated with poor prognosis in amyotrophic lateral sclerosis
Spinal muscular atrophy – insights and challenges in the treatment era
SMN1 copy-number and sequence variant analysis from next-generation sequencing data
Extraneuronal Phenotypes of Spinal Muscular Atrophy
Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening program
Ultrasound-guided lumbar puncture for nusinersen administration in Spinal Muscular Atrophy (SMA) patients
Addendum: Technical standards and guidelines for spinal muscular atrophy testing
Risdiplam: First Approval

Cost effectiveness of nusinersen for patients with infantile-onset spinal muscular atrophy in US
Cardiac findings in pediatric patients with spinal muscular atrophy types 2 and 3
Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
An observational cohort study on impact, dimensions and outcome of perceived fatigue in adult 5q-spinal muscular atrophy patients receiving nusinersen treatment
Reliability and Validity of the Korean Version of the Spinal and Bulbar Muscular Atrophy Functional Rating Scale
Home Noninvasive Ventilation in Pediatric Patients With Neuromuscular Diseases: One Size Fits All
The Dual Nature of Onuf’s Nucleus: Neuroanatomical Features and Peculiarities, in Health and Disease
Sometimes they come back: new and old SMA adults in the era of nusinersen
Split-hand sign: clinical feature of spinal bulbar muscular atrophy?
Spinal Muscular Atrophy
Heterogeneous Nuclear Ribonucleoproteins: Implications in Neurological Diseases
ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene
Research progress in drug therapies of spinal muscular atrophy
Spinal muscular atrophy – the dawning of a new era
The effects of non-invasive mechanical ventilation on cardiac autonomic dysfunction in spinal muscular atrophy
Long non-coding RNAs in motor neuron development and disease
Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1
Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction
Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy
Cutaneous silent period in patients with spinal muscular atrophy type 2 and type 3
Gynecomastia on computed tomography: a helpful finding for the diagnosis of spinal and bulbar muscular atrophy
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies
Assessment of the validity and reliability of the 32-item Motor Function Measure in individuals with Type 2 or non-ambulant Type 3 spinal muscular atrophy
Split hand and motor axonal hyperexcitability in spinal and bulbar muscular atrophy
Natural History of Type 1 Spinal Muscular Atrophy in a Series of Argentinian Children
The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Through a Nationwide, Pan-Neuromuscular Disease Registry
Neuroanatomical Models of Muscle Strength and Relationship to Ambulatory Function in Spinal Muscular Atrophy
Clinical variability in spinal muscular atrophy type III
Two Years of Improved Neurological Function With Nusinersen in a 48-Year-Old Patient With Spinal Muscular Atrophy Type 3
Quantitative description of upper extremity function and activity of people with spinal muscular atrophy
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
Spinal muscular atrophy – challenges in the therapeutic era
Magnetization transfer ratio – a quantitative imaging biomarker for 5q spinal muscular atrophy
Intrathecal Access Through Suboccipital Port in Patients With Spinal Muscular Atrophy and Complex Spines: Case Series and Technical Note
Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy – A pilot study
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA
Discovery of specific mutations in spinal muscular atrophy patients by next-generation sequencing
Gain and loss of abilities in type II SMA: A 12-month natural history study
A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation
NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study
The Impact of Lung Volume Recruitment on Pulmonary Function in Progressive Childhood Onset Neuromuscular Disease: A Systematic Review
Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study
A Study of CK-2127107 in Patients With Spinal Muscular Atrophy
Development of Antisense Oligonucleotide Gapmers for the Treatment of Dyslipidemia and Lipodystrophy
Novel Therapies for Spinal Muscular Atrophy are Likely Changing the Patient Phenotype
Spinal Muscular Atrophy: Autopsy Based Neuropathological Demonstration
MUNIX in children with spinal muscular atrophy: an unexpected journey
Validity and Reliability of the 32-Item Motor Function Measure in 2- to 5-Year-Olds with Neuromuscular Disorders and 2- to 25-Year-Olds with Spinal Muscular Atrophy
ClC-2-like Chloride Current Alterations in a Cell Model of Spinal and Bulbar Muscular Atrophy, a Polyglutamine Disease
Editorial: Spinal Muscular Atrophy: Evolutions and Revolutions of Modern Therapy
Harmony Lost: Cell-Cell Communication at the Neuromuscular Junction in Motor Neuron Disease
Kennedy’s disease: an under-recognized motor neuron disorder
Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey
Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers
AAV9-DOK7 gene therapy reduces disease severity in Smn2B/- SMA model mice
LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy
Use of three-dimensional printing of a lumbar skeletal model for intrathecal administration of nusinersen: a brief technical report
Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 Patients
Targeted delivery for neurodegenerative disorders using gene therapy vectors: Gen next therapeutic goals
Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy
Impact of growth friendly interventions on spine and pulmonary outcomes of patients with spinal muscular atrophy
Neuroprotection: Targeting Multiple Pathways by Naturally Occurring Phytochemicals
Improvement of Pulmonary Function Measured by Patient-reported Outcomes in Patients With Spinal Muscular Atrophy After Growth-friendly Instrumentation
Nusinersen treatment of spinal muscular atrophy – a systematic review
Generation of a spinal muscular atrophy type III patient-specific induced pluripotent stem cell line ICGi003-A
A Crucial Role for the Protein Quality Control System in Motor Neuron Diseases
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification
Successful Combination of Neuraxial and Regional Anesthesia in a Child With Advanced Spinal Muscular Atrophy Type 1 Receiving Maintenance Nusinersen Therapy: A Case Report
Minimal Clinically Important Differences in Functional Motor Scores in Adult Patients with Spinal Muscular Atrophy
Ultrasound-assisted intrathecal injection of nusinersen in a patient with severe vertebral deformity: a case report
Possible recurrent aseptic meningitis associated with nusinersen therapy
Motor Neuron Disease
Administration of nusinersen via paramedian approach for spinal muscular atrophy
Intraoperative Pulmonary Embolism in an Adolescent Patient with Type III Spinal Muscular Atrophy: A Case Report
Neuromuscular disorders in pregnancy
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy
The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An Analysis across Europe
Analysis of genetic variant in a child with concomitant spinal muscular atrophy and Citrin protein deficiency
Spinal muscular atrophy with an overlapping syndrome – “double trouble” or a potentially better outcome?
Socioeconomic status and uptake of reproductive carrier screening in Australia
Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up
Muscle strength and motor function in adolescents and adults with spinal muscular atrophy
Myoglobin: A new biomarker for spinal and bulbar muscular atrophy?
Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study
Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy
Sleep Disordered Breathing: Assessment and Therapy in the Age of Emerging Neuromuscular Therapies
Diagnostic Testing for Patients with Spinal Muscular Atrophy
Comment on: “Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy” by Zhou et al
Response to provincial governments’ decisions regarding monitoring for adults with Spinal Muscular Atrophy
Spinal Muscular Atrophy in Blonde D’Aquitaine Calves Is Not Associated With FVT1 Gene Mutation
SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype
Spinal Muscular Atrophy in the Treatment Era
The authors reply: Letter on: “Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy ” by Zhou et al
Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA
Author response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
Spinal Muscle Atrophy
SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation
Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory insufficiency in slowly progressive neuromuscular disorders

Viral-Mediated Gene Replacement Therapy in the Developing Central Nervous System: Current Status and Future Directions
Healthcare Utilization, Costs of Care, and Mortality Among Psatients With Spinal Muscular Atrophy
A consensus statement on spinal muscular atrophy management in Saudi Arabia in the context of COVID-19
Quantitative MRI of skeletal muscle in a cross-sectional cohort of patients with spinal muscular atrophy types 2 and 3
Health-related quality of life, self-reported impairments and activities of daily living in relation to muscle function in post-polio syndrome
Autophagy and Polyglutamine Disease
Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere
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Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation
Nusinersen in adult patients with spinal muscular atrophy: Observations from a single center
Carrier screening of spinal muscular atrophy in North Indian population and its public health implications
Cost-Effectiveness of Nusinersen and Universal Newborn Screening for Spinal Muscular Atrophy
Therapeutic antisense oligonucleotides for movement disorders
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants
Cervical Kyphosis in Spinal Muscular Atrophy: A Case Report
Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy
Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.
Respiratory assessment in a spinal muscular atrophy infant treated with nusinersen.
Economic burden of spinal muscular atrophy in the United States: a contemporary assessment.
Gene therapeutic strategies and relevant clinical trials in neuromuscular disorder in China.
Natural history data in adults with SMA
Improving Temporomandibular Range of Motion in People With Duchenne Muscular Dystrophy and Spinal Muscular Atrophy.
A Novel Adverse Event of Nusinersen Treatment: Thrombocytosis.
Measuring Outcomes in Adults with Spinal Muscular Atrophy – Challenges and Future Directions – Meeting Report.
[Molecular therapies in childhood neuromuscular disorders-definite hope versus unknown pitfalls].
Calculation of the prevalence of progressive muscular atrophy among adults in China based on urban medical insurance data from 15 provinces
Werdnig Hoffmann Disease
Hirayama Disease (Non-progressive Juvenile Spinal Muscular Atrophy)
Autosomal Dominant TRPV4 Disorders