Pending

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
Miracles in My Time: Reflections of a Paediatric Respiratory Physician
The need for evidence-based treatment decisions in spinal muscular atrophy type 0
Reply to: The need for evidence-based treatment decisions in spinal muscular atrophy type 0
Characterising gait in paediatric neuromuscular disorders: an observational study of spatio-temporal gait in a clinical cohort
In brief: Risdiplam (Evrysdi) for spinal muscular atrophy
SMA-miRs: miR-181a-5p, -324-5p, -451a are overexpressed in spinal muscular atrophy skeletal muscle and serum samples
Correlation Between Maximal Tongue Pressure and Swallowing Function in Spinal and Bulbar Muscular Atrophy
Combined laparoscopic-endoscopic approach for gastric glomus tumor: A case report
Buying time for infants with spinal muscular atrophy
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial
Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A Case Report
Review: Cytoplasmic dynein motors in photoreceptors
Orally administered branaplam does not impact neurogenesis in juvenile mice, rats, and dogs
Contribution to the Discovery of a Novel Medicine for a Neuromuscular Disease and of other Promising Molecules for the Treatment of Neurodevelopmental and Neurodegenerative Diseases
Correction to: Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers’ perspective: a two-part study
DYNC1H1de novo mutation, spinal muscular atrophy and attention problems
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
Cytochemical Characterization of Cerebrospinal Fluid Macrophage Inclusions in Pediatric Patients Receiving Intrathecal Nusinersen (SPINRAZA) for Spinal Muscular Atrophy
A Study of Diffusion Tensor Imaging in Hirayama Disease
Motor Function of Children with SMA1 and SMA2 Depends on the Neck and Trunk Muscle Strength, Deformation of the Spine, and the Range of Motion in the Limb Joints
Anxiety and depression in school-age patients with spinal muscular atrophy: a cross-sectional study
Postnatal gene therapy for neuromuscular diseases – opportunities and limitations
Polyglutamine diseases
Molecular Biomarkers for Spinal Muscular Atrophy: A Systematic Review
Systematic review of motor function scales and patient reported outcomes in spinal muscular atrophy
Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging
Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children
Growth patterns in children with spinal muscular atrophy
Nusinersen Treatment in Adults With Spinal Muscular Atrophy
Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen
Effects of functional electrical stimulation on muscle health after spinal cord injury
Gene therapy. The legacy of Wacław Szybalski
Gene therapy for neuromuscular disorders: prospects and ethics
Fluorescence Correlation Spectroscopy Reveals Survival Motor Neuron Oligomerization but No Active Transport in Motor Axons of a Zebrafish Model for Spinal Muscular Atrophy
Profilin Isoforms in Health and Disease – All the Same but Different
Epidemiological investigation of spinal muscular atrophy in Japan
Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs
Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number
Comparison of the United Kingdom and United States approaches to approval of new neuromuscular therapies
Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan
Sagittal Plane Deformities in Children with SMA2 following Posterior Spinal Instrumentation
High Concentration of an ISS-N1-Targeting Antisense Oligonucleotide Causes Massive Perturbation of the Transcriptome
Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review
What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy
Genetic counseling and predictive testing for hereditary neuromuscular diseases
Longitudinal changes in respiratory and upper limb function in a paediatric type III spinal muscular atrophy cohort following loss of ambulation
New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software
Bone mineral density and its influencing factors in Chinese children with spinal muscular atrophy types 2 and 3
Dual SMN inducing therapies can rescue survival and motor unit function in symptomatic ∆7SMA mice
Computed tomography-guided transforaminal lumbar puncture using local anesthesia and a straight 22-gauge spinal needle for intrathecal nusinersen in adults: Findings in 77 procedures
Update on Biomarkers in Spinal Muscular Atrophy
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity
Sumoylation regulates the assembly and activity of the SMN complex
Evaluation of a Case Management to Support Families With Children Diagnosed With Spinal Muscular Atrophy-Protocol of a Controlled Mixed-Methods Study
Clinical outcome assessments in Duchenne muscular dystrophy and spinal muscular atrophy: past, present and future
Antisense Oligonucleotide Therapy for Neurodevelopmental Disorders
Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients
Regulating patient access to therapeutics in Denmark: a rhetorical analysis of welfare imaginaries in public controversy
Prolonged fasting induced hyperketosis, hypoglycaemia and impaired fat oxidation in child and adult patients with spinal muscular atrophy type II
Electrical impedance tomography detects changes in ventilation after airway clearance in spinal muscular atrophy type I
Ultrasound assisted lumbar intrathecal administration of nusinersen in adult patients with spinal muscular atrophy: a case series
Mastication in Patients with Spinal Muscular Atrophy Types 2 and 3 is Characterized by Abnormal Efficiency, Reduced Endurance, and Fatigue
Cerebrospinal Fluid and Clinical Profiles in Adult Type 2-3 Spinal Muscular Atrophy Patients Treated with Nusinersen: An 18-Month Single-Centre Experience
Thrombotic Microangiopathy (TMA) after Gene Replacemant Therapy (GRT) due to Spinal Muscular Atrophy: Case Summary and Recommendations for Treatment
Gene therapy for spinal muscular atrophy: the benefit-cost profile
Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy
Findings regarding emotion regulation strategies and quality of life’s domains in families having children with spinal muscular atrophy
Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency
Nutritional, Gastrointestinal and Endo-Metabolic Challenges in the Management of Children with Spinal Muscular Atrophy Type 1
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report
Age-related sensory neuropathy in patients with Spinal Muscular Atrophy type 1
SMN protein is required throughout life to prevent spinal muscular atrophy disease progression
Digital Biomarkers for Neuromuscular Disorders: A Systematic Scoping Review
Activation of Muscle-Specific Kinase (MuSK) Reduces Neuromuscular Defects in the Delta7 Mouse Model of Spinal Muscular Atrophy (SMA)
Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development
Quality of Life Outcomes According to Differential Nusinersen Exposure in Pediatric Spinal Muscular Atrophy
Model-based drug-drug interaction extrapolation strategy from adults to children – risdiplam in pediatric patients with spinal muscular atrophy
Assuring long-term safety of highly effective gene-modulating therapeutics for rare diseases
Spinal muscular atrophy: From approved therapies to future therapeutic targets for personalized medicine
Different trajectories in upper limb and gross motor function in spinal muscular atrophy
Regulated control of gene therapies by drug-induced splicing
Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy
Maximising returns: combining newborn screening with gene therapy for spinal muscular atrophy
Newborn screening for spinal muscular atrophy with disease-modifying therapies: a cost-effectiveness analysis
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls
Acquired Bartter-like Syndrome Presenting with Polyuria and Reversible Hypokalemia Associated with Colistin Use in a Critically Ill Pediatric Patient
Interventions for spinal muscular atrophy: an impetus for newborn screening
Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen
Envisioning treating genetically-defined urinary tract malformations with viral vector-mediated gene therapy
Male Adolescent with Left-Sided Muscle Atrophy of the Hand-The Rare Entity of Cervical Flexion Myelopathy (Hirayama disease)
Using genetic testing to diagnose Kennedy’s disease: a case report and literature review
Quantitative Motion Measurements Based on Markerless 3D Full-Body Tracking in Children with SMA Highly Correlate with Standardized Motor Assessments
COVID-19 Infection in Spinal Muscular Atrophy Associated with Multisystem Inflammatory Syndrome
Synaptic Transmission and Motoneuron Excitability Defects in Amyotrophic Lateral Sclerosis
A novel zebrafish model for intermediate type spinal muscular atrophy demonstrates importance of Smn for maintenance of mature motor neurons
Self-Care Experiences of Adolescents with Spinal Muscular Atrophy
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan

Combination Therapy with Onasemnogene and Risdiplam in Spinal Muscular Atrophy Type 1
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
Recognition of single-stranded nucleic acids by small-molecule splicing modulators
Therapeutic Assay with the Non-toxic C-Terminal Fragment of Tetanus Toxin (TTC) in Transgenic Murine Models of Prion Disease
Psychometric properties of the PEDI-CAT for children and youth with spinal muscular atrophy
Gene therapy for spinal muscular atrophy: the Qatari experience
Juvenile Huntington’s Disease and Other PolyQ Diseases, Update on Neurodevelopmental Character and Comparative Bioinformatic Review of Transcriptomic and Proteomic Data
Mobility and quality of life among adults with 5q-spinal muscular atrophy: the influence of individual history
Validity and Reliability of the Neuromuscular Gross Motor Outcome
Retraction: Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy
Navigating the U.S. health insurance landscape for children with rare diseases: a qualitative study of parents’ experiences
Preclinical Safety Assessment and Toxicokinetics of Apitegromab, an Antibody Targeting Proforms of Myostatin for the Treatment of Muscle-Atrophying Disease
Motor unit number index: A potential electrophysiological biomarker for pediatric spinal muscular atrophy
Intrathecal catheter and port placement for nusinersen infusion in children with spinal muscular atrophy and spinal fusion
Paradigm shift in the era of disease-modifying therapies for Spinal Muscular Atrophy type 1: respiratory challenges and opportunities
Influence of hybrid assistive limb gait training on spatial muscle activation patterns in spinal muscular atrophy type III
Nusinersen improved respiratory function in spinal muscular atrophy type 2
Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT disease
Treatment of patients with spinal muscular atrophy 5q: towards a new protocol
A Study of Multiple Doses of Nusinersen (ISIS 396443) Delivered to Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy
Matching-adjusted indirect treatment comparison of onasemnogene abeparvovec and nusinersen for the treatment of symptomatic patients with spinal muscular atrophy type 1
Combining multiomics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy
Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001)
Scoliosis in spinal muscular atrophy
Selecting disease-modifying medications in 5q spinal muscular atrophy
Implementing Outcomes-Based Managed Entry Agreements for Rare Disease Treatments: Nusinersen and Tisagenlecleucel
Gait-assisted exoskeletons for children with cerebral palsy or spinal muscular atrophy: A systematic review
Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons
Motor Unit Number Estimation in adult patients with SMA treated with Nusinersen
Advances of Antisense Oligonucleotide Technology in the Treatment of Hereditary Neurodegenerative Diseases
Current Progress in the Creation, Characterization, and Application of Human Stem Cell-derived in Vitro Neuromuscular Junction Models
Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018-2021
Stem Cell Models and Gene Targeting for Human Motor Neuron Diseases
Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases
New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient
Advances in the therapy of Spinal Muscular Atrophy
Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy
Axonal Transport and Local Translation of mRNA in Neurodegenerative Diseases
Neuromuscular Electrical Stimulation Improves Muscle Strength, Biomechanics of Movement, and Functional Mobility in Children with Chronic Neurological Disorders: A Systematic Review and Meta-Analysis
Spinal Muscular Atrophy Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency
Outcomes of Long-term Non-invasive Ventilation Use in Children with Neuromuscular Disease: Systematic Review and Meta-analysis
RNA splicing modulation: Therapeutic progress and perspectives
Assembly of higher-order SMN oligomers is essential for metazoan viability and requires an exposed structural motif present in the YG zipper dimer
Genome editing in stem cells for genetic neurodisorders
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy
TOR signaling regulates liquid phase separation of the SMN complex governing snRNP biogenesis
Onasemnogene abeparvovec-xioi: a gene replacement strategy for the treatment of infants diagnosed with spinal muscular atrophy
Corrigendum: Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy
Risdiplam, the First Approved Small Molecule Splicing Modifier Drug as a Blueprint for Future Transformative Medicines
2020 Update to Spinal Muscular Atrophy Management in Saudi Arabia
The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation
Epiconus Syndrome and Conus Syndrome
Dissection, in vivo imaging and analysis of the mouse epitrochleoanconeus muscle
Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study
Correlation between severity of spinal stenosis and multifidus atrophy in degenerative lumbar spinal stenosis
Early Cost-Effectiveness of Onasemnogene Abeparvovec-xioi (Zolgensma) and Nusinersen (Spinraza) Treatment for Spinal Muscular Atrophy I in The Netherlands With Relapse Scenarios
Does Cost-Effectiveness Analysis Overvalue Potential Cures? Exploring Alternative Methods for Applying a “Shared Savings” Approach to Cost Offsets
Survival motor neuron deficiency slows myoblast fusion through reduced myomaker and myomixer expression
Monomelic amyotrophy. Report of one case
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen
What Happens to Our Neuromuscular Patients in Adulthood: Pathway to Independence and Maximal Function
Restoring Protein Expression in Neuromuscular Conditions: A Review Assessing the Current State of Exon Skipping/Inclusion and Gene Therapies for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy
Two cases of DYNC1H1 mutations with intractable epilepsy
Safety, Tolerability, and Effect of Nusinersen Treatment in Ambulatory Adults With 5q-SMA
Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study
Unexpected but successful non-instrumental vaginal delivery in a spinal muscular atrophy type II pregnant patient
Acetylcholinesterase inhibitor responsive myasthenia in a Filipino male with X-linked recessive spinal and bulbar muscular atrophy
Guidance on gene replacement therapy in Spinal Muscular Atrophy: a Canadian perspective
Lumbar muscle atrophy and increased relative intramuscular lipid concentration are not mitigated by daily artificial gravity after 60-day head-down tilt bed rest
Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease
Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease
Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease
Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease. Reply
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
A Monolayer System for the Efficient Generation of Motor Neuron Progenitors and Functional Motor Neurons from Human Pluripotent Stem Cells
Cas12a and Lateral Flow Strip-Based Test for Rapid and Ultrasensitive Detection of Spinal Muscular Atrophy
Smaller Intervertebral Disc Volume and More Disc Degeneration after Spinal Distraction in Scoliotic Children
Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy
Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients
Metabolic Dysfunction in Spinal Muscular Atrophy
Adeno-associated virus gene therapy to the rescue for Charcot-Marie-Tooth disease type 4J
Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients
Examining the impact of different country processes for appraising rare disease treatments: a case study analysis
Germline BRCA2 mutation in a case of aggressive prostate cancer accompanied by spinal bulbar muscular atrophy
An open-label phase 1 clinical trial of the allogeneic side population adipose-derived mesenchymal stem cells in SMA type 1 patients
Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module
SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals
Interventions for promoting physical activity in people with neuromuscular disease
Plastin 3 in health and disease: a matter of balance
Feasibility and effectiveness of a novel dynamic arm support in persons with spinal muscular atrophy and duchenne muscular dystrophy
Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population
Clenbuterol-sensitive delayed outward potassium currents in a cell model of spinal and bulbar muscular atrophy
A Cerner Real-World Data Study of Spinal Muscular Atrophy Patients With Positive COVID-19 Infection
Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies
The potential role of miRNA therapies in spinal muscle atrophy
Neonatal screening in Europe revisited: An ISNS-perspective on the current state and developments since 2010
Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA)
Five-Year Extension Results of the Phase 1 START Trial of Onasemnogene Abeparvovec in Spinal Muscular Atrophy

Ultrastructural characterization of peripheral denervation in a mouse model of Type III spinal muscular atrophy
Parents’ advice to other parents of children with spinal muscular atrophy: Two nationwide follow-ups
A novel BICD2 mutation of a patient with Spinal Muscular Atrophy Lower Extremity Predominant 2
Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment
Therapeutic Modulation of RNA Splicing in Malignant and Non-Malignant Disease
Neck and Trunk Muscle Strength in Children With Spinal Muscular Atrophy Is Lower Than in Healthy Controls and Depends on Disease Type
Increased systemic HSP70B levels in spinal muscular atrophy infants
A physiologically-based pharmacokinetic model to describe antisense oligonucleotide distribution after intrathecal administration
Mesyl Phosphoramidate Oligonucleotides as Potential Splice-Switching Agents: Impact of Backbone Structure on Activity and Intracellular Localization
Profilin2 regulates actin rod assembly in neuronal cells
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron protein
Automated in vivo drug screen in zebrafish identifies synapse-stabilising drugs with relevance to spinal muscular atrophy
Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Effect of nusinersen on respiratory function in paediatric spinal muscular atrophy types 1-3
A Randomized Phase 1 Safety, Pharmacokinetic and Pharmacodynamic Study of the Novel Myostatin Inhibitor Apitegromab (SRK-015): A Potential Treatment for Spinal Muscular Atrophy
The incidence of hydrocephalus among patients with and without spinal muscular atrophy (SMA): Results from a US electronic health records study
Time is muscle: A recommendation for early treatment for preterm infants with spinal muscular atrophy
Treatment expectations and perception of therapy in adult patients with spinal muscular atrophy receiving nusinersen
Investigation of Neuropathology after Nerve Release in Chronic Constriction Injury of Rat Sciatic Nerve
Mediterranean Diet, Brain and Muscle: Olive Polyphenols and Resveratrol Protection in Neurodegenerative and Neuromuscular Disorders
Repurposing Vorinostat for the Treatment of Disorders Affecting Brain
Priority setting at the clinical level: the case of nusinersen and the Norwegian national expert group
Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1
Safety, Tolerability, and Effect of Nusinersen in Non-ambulatory Adults With Spinal Muscular Atrophy
Tailoring NIV by dynamic laryngoscopy in a child with spinal muscular atrophy type I
Targeting the myostatin signaling pathway to treat muscle loss and metabolic dysfunction
Consensus statement of the Hungarian Clinical Neurogenic Society about the therapy of adult SMA patients
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)
Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy
Dissociation of disease onset, progression and sex differences from androgen receptor levels in a mouse model of amyotrophic lateral sclerosis
Surgical Decision-Making in Spinal Instability in Facioscapulohumeral Muscular Dystrophy Related with a Spinal Muscle Atrophy
Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients
RNA-Targeting Splicing Modifiers: Drug Development and Screening Assays
Camptocormia in patients with multiple system atrophy at different disease durations: frequency and related factors
A Comprehensive Analysis of the Role of hnRNP A1 Function and Dysfunction in the Pathogenesis of Neurodegenerative Disease
Prenatal transplantation of human amniotic fluid stem cell could improve clinical outcome of type III spinal muscular atrophy in mice
Gene therapy may not be as expensive as people think: challenges in assessing the value of single and short-term therapies
Nusinersen treatment in adult patients with spinal muscular atrophy: a safety analysis of laboratory parameters
Label-free quantitative proteomic analysis of extracellular vesicles released from fibroblasts derived from patients with spinal muscular atrophy
Spinal Muscular Atrophy
Phenotypes of SMA patients retaining SMN1 with intragenic mutation
Essential competencies for physical therapist managing individuals with spinal muscular atrophy: A delphi study
Exercise Intervention Leads to Functional Improvement in a Patient with Spinal and Bulbar Muscular Atrophy
Safety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA)
Emerging role of non-coding RNA in health and disease
Proxy-Reported Quality of Life and Access to Nusinersen Among Patients with Spinal Muscular Atrophy in Saudi Arabia
Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis
A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies.
A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method
Spinal muscular atrophy: state of the art and new therapeutic strategies
Quality of Life in SMA Patients Under Treatment With Nusinersen
Pilot Study on Quantitative Cervical Cord and Muscular MRI in Spinal Muscular Atrophy: Promising Biomarkers of Disease Evolution and Treatment?
Diagnostic yield of muscle biopsies in pediatric population: a tertiary center experience
Childbirth and motherhood in women with motor disability due to a rare condition: an exploratory study
Point-of-care lung and diaphragm ultrasound in a patient with spinal muscular atrophy with respiratory distress type 1
Intracellular pathways involved in cell survival are deregulated in mouse and human spinal muscular atrophy motoneurons
Characterization of Adult Patients With SMA Treated in US Hospital Settings: A Natural History Study in the Premier Healthcare Database
Normalization of Spinal Cord Total Cross-Sectional and Gray Matter Areas as Quantified With Radially Sampled Averaged Magnetization Inversion Recovery Acquisitions
Posterior Spinal Correction and Fusion Surgery in Patients with Spinal Muscular Atrophy-Associated Scoliosis for Whom Treatment with Nusinersen Was Planned
“We needed this”: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy
The use of expanded carrier screening of gamete donors
Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay
Viral gene therapy for paediatric neurological diseases: progress to clinical reality
Instruments to assess upper-limb function in children and adolescents with neuromuscular diseases: a systematic review
Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase
Brachial plexus block for elbow surgery in a patient with spinal muscular atrophy
Motor unit number index (MUNIX) in children and adults with 5q-spinal muscular atrophy: Variability and clinical correlations
Novel genome-editing-based approaches to treat motor neuron diseases: promises and challenges
Use of Intramolecular 1,5-Sulfur-Oxygen and 1,5-Sulfur-Halogen Interactions in the Design of N -Methyl-5-aryl-N -(2,2,6,6-tetramethylpiperidin-4-yl)-1,3,4-thiadiazol-2-amine SMN2 Splicing Modulators
Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future
A complicated association between two different genetic rare disorders: Cystic Fibrosis and Spinal Muscular Atrophy
Revisiting the role of mitochondria in spinal muscular atrophy
Getting Down to the Bare Bones: Does laminoplasty or laminectomy With Fusion Provide Better Outcomes for Patients With Multilevel Cervical Spondylotic Myelopathy?
Neurodegeneration and axonal mRNA transportation
A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check
Nusinersen Wearing-Off in Adult 5q-Spinal Muscular Atrophy Patients
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
Spinal Muscular Atrophy after Nusinersen Therapy: Improved Physiology in Pediatric Patients with No Significant Change in Urine, Serum, and Liquor 1H-NMR Metabolomes in Comparison to an Age-Matched, Healthy Cohort
Multi-site Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants
Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit
Treatment boost for spinal muscular atrophy
Prognostic factors and treatment-effect modifiers in spinal muscular atrophy
Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment
“Suddenly we have hope that there is a future”: two families’ narratives when a child with spinal muscular atrophy receives a new drug
Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers’ perspective: a two-part study
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy
Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider
Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen
Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype
Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec
Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy
A case of Charcot-Marie-Tooth disease type 2Z caused by MORC2 S87L mutation mimicking spinal muscular atrophy
Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery
Evolving Surgical Management for Early-Onset Scoliosis in Spinal Muscular Atrophy Type 1 Given Improvements in Survival
A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs

Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy
Prenatal diagnosis of spinal muscular atrophy using multiple ligation-dependent probe amplification
Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities
Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada
Treatment satisfaction in 5q-spinal muscular atrophy under nusinersen therapy
Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation
Gene therapy for spinal muscular atrophy: hope and caution
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial
Filling the gaps in knowledge translation: Physical therapy recommendations for individuals with spinal muscular atrophy compared to standard of care guidelines
Selective suppression of polyglutamine-expanded protein by lipid nanoparticle-delivered siRNA targeting CAG expansions in the mouse CNS
Modular Synthesis of Trifunctional Peptide-oligonucleotide Conjugates via Native Chemical Ligation
Beyond copy number: A new, rapid and versatile method for sequencing the entire SMN2 gene in SMA patients
Impact of growing up with somatic long-term health challenges on school completion, NEET status and disability pension: a population-based longitudinal study
Huntington’s disease-specific mis-splicing unveils key effector genes and altered splicing factors
Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype
The impact of early phase price agreements on prices of orphan drugs
Nusinersen does not improve lung function in a cohort of children with spinal muscular atrophy – A single-center retrospective study
Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen
Reply to: Minimal detectable change and minimal clinically important differences in spinal muscular atrophy patients
The Spinal Muscular Atrophy Health Index (SMA-HI): A Novel Outcome for Measuring How a Patient Feels and Functions
An updated cost-utility model for onasemnogene abeparvovec (Zolgensma) in spinal muscular atrophy type 1 patients and comparison with evaluation by the Institute for Clinical and Effectiveness Review (ICER)
Structural Basis of Tirasemtiv Activation of Fast Skeletal Muscle
Calcium is Reduced in Presynaptic Mitochondria of Motor Nerve Terminals during Neurotransmission in SMA Mice
Nusinersen and Spinal Muscular Atrophies: Where are we in 2020?
Clinical Experience of Nusinersen in a Broad Spectrum of Spinal Muscular Atrophy: A Retrospective Study
An Open-label Safety, Tolerability and Dose-Range Finding Study of Multiple Doses of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy
An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy
Glucose and lipid metabolism disorders in children and adolescents with spinal muscular atrophy types 2 and 3
NHS England agrees deal for gene therapy for spinal muscular atrophy
The impact of scoliosis surgery on pulmonary function in spinal muscular atrophy: a systematic review
Long-term benefits of nusinersen in a child affected by cystic fibrosis and spinal muscular atrophy type 1
Effect of Discontinuation of Nusinersen Treatment in Long-Standing SMA3
The altered expression of neurofilament in mouse models and patients with spinal muscular atrophy
In vitro models of spinal motor circuit’s development in mammals: achievements and challenges
Clinical Experience With Gene Therapy in Older Patients With Spinal Muscular Atrophy
Effect of leuprorelin in bulbar function of spinal and bulbar muscular atrophy patients: observational study for 1 year
Laboratory Monitoring of Nusinersen Safety
Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better?
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress
Is CSF amyloidbeta42 a promising biomarker of response to nusinersen in adult spinal muscular atrophy patients?
Intracellular trafficking of adeno-associated virus (AAV) vectors: challenges and future directions
Early death of ALS-linked CHCHD10-R15L transgenic mice with central nervous system, skeletal muscle, and cardiac pathology
Cerebrospinal Fluid Parameters in Antisense Oligonucleotide-Treated Adult 5q-Spinal Muscular Atrophy Patients
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era
Axonal mRNA localization and local translation in neurodegenerative disease
Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy
Endosomal escape cell-penetrating peptides significantly enhance pharmacological effectiveness and CNS activity of systemically administered antisense oligonucleotides
Response to letter: A decision for life – Treatment decisions in newly diagnosed families with spinal muscular atrophy
Gene Therapy for Monogenic Inherited Disorders
Clinical Outcome of Adult Spinal Muscular Atrophy Patients Treated with Nusinersen: A Case Series Review
A Systematic Review of Procedural Complications from Transforaminal Lumbar Puncture for Intrathecal Nusinersen Administration in Patients with Spinal Muscular Atrophy
Risdiplam in Type 1 Spinal Muscular Atrophy
Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study
Skin necrosis in spinal muscular atrophy: Case report and review of the literature
“I have SMA, SMA doesn’t have me”: a qualitative snapshot into the challenges, successes, and quality of life of adolescents and young adults with SMA
A Study to Investigate the Effect of Hepatic Impairment on the Pharmacokinetics and Safety and Tolerability of a Single Oral Dose of Risdiplam Compared to Matched Healthy Participants With Normal Hepatic Function
Nusinersen treatment of older children and adults with spinal muscular atrophy
Stakeholder perspectives of pediatric powered wheelchair standing devices: a qualitative study
Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross-sectional study
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study
Minimal detectable change and minimal clinically important differences in spinal muscular atrophy patients
An Open-label Safety, Tolerability, and Dose-range Finding Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA)
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease
A Study to Assess the Efficacy, Safety and Pharmacokinetics of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy (SMA)
A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy
A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Participants With Later-onset Spinal Muscular Atrophy (SMA)
A Study to Assess the Safety and Tolerability of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA).
Delivery of Nusinersen Through an Ommaya Reservoir in Spinal Muscular Atrophy
An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy Who Previously Participated in ISIS 396443-CS1 (NCT01494701)
An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in ISIS 396443-CS2 (NCT01703988) or ISIS 396443-CS10 (NCT01780246)
Long Term Safety of Amifampridine Phosphate in Spinal Muscular Atrophy 3
The cost of specialized medical care of children under spinal muscular atrophy in Moscow
U7 snRNA: a tool for gene therapy
Preserved eye movements in adults with spinal muscular atrophy
Motor unit reserve capacity in spinal muscular atrophy during fatiguing endurance performance
A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report
Erratum to “Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?”
A subset of SMN complex members have a specific role in tissue regeneration via ERBB pathway-mediated proliferation
Lumbar Puncture Opening Pressure in Patients with Spinal Muscular Atrophy
Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
Costs of Illness of Spinal Muscular Atrophy: A Systematic Review
Do we always need to treat patients with spinal muscular atrophy? A personal view and experience
Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions
Nusinersen treatment of Spinal Muscular Atrophy Type 1 – results of expanded access programme in Poland
In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy
Coexistence of Spinal Muscular Atrophy Type 1 and Factor X1 Deficiency
Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots
Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy
Parents’ perspectives on nusinersen treatment for children with spinal muscular atrophy
Post-dural puncture headache-a single-centre analysis in paediatric patients with and without SMA
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy
SMN depleted mice offer a robust and rapid onset model of non-alcoholic fatty liver disease
Spinal muscular atrophy: an update for managed care pharmacists
Updates in clinical data for FDA-approved disease-modifying therapies for spinal muscular atrophy
Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1
Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance
Gene-based therapies for neurodegenerative diseases
Gene-Targeted Therapies and Palliative Care in Children with Spinal Muscular Atrophy Type I: No Intrinsic Contradiction
Transient hyperreflexia: An early diagnostic clue in later-onset spinal muscular atrophy

Extension Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Who Previously Participated in a Study With Nusinersen
Ultra-low radiation dose protocol for CT-guided intrathecal nusinersen injections for patients with spinal muscular atrophy and severe scoliosis
A novel Xp11.22-22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy
Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA
A case of proximal-type Hirayama disease associated with neck axial rotation
Gene-Targeting Therapeutics for Neurological Disease: Lessons Learned from Spinal Muscular Atrophy
The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy
Safety and efficacy of nusinersen in spinal muscular atrophy: the EMBRACE study
Management of Spinal Disorders in Parkinson’s Disease
PLEKHG5: Merging phenotypes and disease mechanisms in Charcot Marie Tooth neuropathy and lower motor neuron disease
Nutritional Therapy in Children with Spinal Muscular Atrophy in the Era of Nusinersen
Nutrition status survey of type 2 and 3 spinal muscular atrophy in Chinese population
Peri-operative management of children with spinal muscular atrophy
Circulating microRNAs as potential biomarkers and therapeutic targets in spinal muscular atrophy
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments
Bioavailability and Bioequivalence of Two Risdiplam Tablets in Healthy Participants
Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran
Quantification of disease progression in spinal muscular atrophy with muscle MRI-a pilot study
Stress induced ketoacidosis in spinal muscular atrophy. Report of one case
Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment
Severe Atrophy of the Ipsilateral Psoas Muscle Associated with Hip Osteoarthritis and Spinal Stenosis-A Case Report
Structure of SRSF1 RRM1 bound to RNA reveals an unexpected bimodal mode of interaction and explains its involvement in SMN1 exon7 splicing
Infantile spinal muscular atrophy -the potential for cure of a fatal disease
Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen
Erratum: A consensus statement on spinal muscular atrophy management in Saudi Arabia in the context of COVID-19
Spinal Muscular Atrophy Type 3 Showing a Specific Pattern of Selective Vulnerability on Muscle Ultrasound
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy
Targeting RNA with small molecules: from fundamental principles towards the clinic
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2
Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review
Effects of Survival Motor Neuron Protein on Germ Cell Development in Mouse and Human
The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases
First small-molecule drug targeting RNA gains momentum
Effect of Nusinersen in a late onset spinal muscular atrophy patient for 14 months: A case report
Incorporating spinal muscular atrophy analysis by next-generation sequencing into a comprehensive multigene panel for neuromuscular disorders
Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec -A Single Centre Experience
Spinal Muscular Atrophy: In the Challenge Lies a Solution
Development and Use of Gene Therapy Orphan Drugs-Ethical Needs for a Broader Cooperation Between the Pharmaceutical Industry and Society
Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study)
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR
Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes
Microtubule associated protein 1B dysregulates microtubule dynamics and neuronal mitochondrial transport in Spinal Muscular Atrophy
Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)
Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study
Safety, Tolerability, and Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular Atrophy
Quality of life in children and adolescents with Spinal Muscular Atrophy
Prevalence of long-term mechanical insufflation-exsufflation in children with neurological conditions: a population-based study
Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study
COVID-19 in children with neuromuscular disorders
Spinal motor neuron loss occurs through a p53-and-p21-independent mechanism in the Smn(2B/-) mouse model of spinal muscular atrophy
Continuous lengthening potential after four years of magnetically controlled spinal deformity correction in children with spinal muscular atrophy
Fatherhood achieved in a case of nonobstructive azoospermia with Kennedy’s disease via microdissection testicular sperm extraction and ICSI: A case report and literature review
How to Build and to Protect the Neuromuscular Junction: The Role of the Glial Cell Line-Derived Neurotrophic Factor
Cognitive Performance of Patients with Adult 5q-Spinal Muscular Atrophy and with Amyotrophic Lateral Sclerosis
Rare cause of unilateral upper limb weakness in a young adolescent
Correlation of Pulmonary Function to Novel Radiographic Parameters of Collapsing Parasol Deformity in Spinal Muscular Atrophy
Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies
The atlas of RNase H antisense oligonucleotide distribution and activity in the CNS of rodents and non-human primates following central administration
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation
Infantile spinal muscular atrophy (SMA)
Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease)
Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA)
Clinical features of spinal muscular atrophy (SMA) type 2
Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease)
Functional and surgical treatments in patients with spinal muscular atrophy (SMA)
Respiratory management of children with spinal muscular atrophy (SMA)
Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA)
State of the art for motor function assessment tools in spinal muscular atrophy (SMA)
Multidisciplinary approach and psychosocial management of spinal muscular atrophy (SMA)
Ethical aspects in the care of a child with infantile spinal muscular atrophy (SMA)
Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy
A Decision for Life – Treatment decisions in newly diagnosed families with spinal muscular atrophy (SMA)
Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons
The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis
Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)
Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy
Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases
Exosc2 deficiency leads to developmental disorders by causing a nucleotide pool imbalance in zebrafish
A rapid molecular diagnostic method for spinal muscular atrophy
Generalized Hypotonia Revealing Spinal Muscular Atrophy Type 2: The First Case Reported From the Dominican Republic and a Review of the Literature
New Therapeutics Options for Pediatric Neuromuscular Disorders
Spinal Muscular Atrophy and Communicating Hydrocephalus: A Novel or a Well-Established Rare Association?
Gene specific therapies – the next therapeutic milestone in neurology
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy
U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing
Spinal Muscular Atrophy Type 1 With Exon 8 Deletion and Bilateral Optic Atrophy
SQSTM1L341V variant that is linked to sporadic ALS exhibits impaired association with MAP1LC3 in cultured cells
Current Clinical Applications of in vivo Gene Therapy with AAVs
Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis
Respiratory outcomes post nusinersen in spinal muscular atrophy type 1
Children and young adults with spinal muscular atrophy treated with nusinersen
Identification of SRSF10 as a regulator of SMN2 ISS-N1
Hirayama Disease can be Caused by Loss of Attachment of the Cervical Posterior Dura to the Pedicle due to Immunological Abnormalities of the Dura and Posterior Ligaments: A New Hypothesis
Drug Screening and Drug Repositioning as Promising Therapeutic Approaches for Spinal Muscular Atrophy Treatment
The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy
The Burden of Spinal Muscular Atrophy on Informal Caregivers
A review of the effects and molecular mechanisms of dimethylcurcumin (ASC-J9) on androgen receptor-related diseases
A Neurexin2aa deficiency results in axon pathfinding defects and increased anxiety in zebrafish
Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center

Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease
Altered supraspinal motor networks in survivors of poliomyelitis: A cortico-muscular coherence study
Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation
Of rAAV and Men: From Genetic Neuromuscular Disorder Efficacy and Toxicity Preclinical Studies to Clinical Trials and Back
Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series
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
Targeting Nrf2 for the treatment of Duchenne Muscular Dystrophy
Accessory spinal nerve damage during a cervical lymph node biopsy: case report
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
Spinal Muscular Atrophy