Pending

Neuromuscular junction pathology is correlated with differential motor unit vulnerability in spinal and bulbar muscular atrophy
Real-world safety and effectiveness of nusinersen, a treatment for spinal muscular atrophy, in 401 Japanese patients: results from an interim analysis of post-marketing surveillance
R-loop Mediated DNA Damage and Impaired DNA Repair in Spinal Muscular Atrophy
Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene
Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report
Spinal Muscular Atrophy Type 1: Fetal Diagnosis, Prenatal Coordination, and Postnatal Management in the Era of Novel Therapies
Clinical follow-up analysis of nusinersen in the disease-modifying treatment of pediatric spinal muscular atrophy
Engineered U1 snRNAs to modulate alternatively spliced exons
Amifampridine safety and efficacy in spinal muscular atrophy ambulatory patients: a randomized, placebo-controlled, crossover phase 2 trial
Application of modern approaches in the screening and early diagnosis programs for the orphan diseases
The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever
Molecular Pathogenesis and New Therapeutic Dimensions for Spinal Muscular Atrophy
Reply to Aljabali et al. Comment on “Abbas et al. The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. Medicina 2022, 58 , 213”
Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy
Physical Therapy and Nusinersen Impact on Spinal Muscular Atrophy Rehabilitative Outcome
Comment on Abbas et al. The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. Medicina 2022, 58 , 213
Safety, tolerability, and efficacy of a widely available nusinersen program for Polish children with Spinal Muscular Atrophy
Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence
Juvenile muscular atrophy of the distal upper extremity (Hirayama syndrome): a systematic review
Inhibition of myostatin and related signaling pathways for the treatment of muscle atrophy in motor neuron diseases
Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy
Shenkang injection protects against renal fibrosis by reducing perforin expression through the STING/TBK1/IRF3 signaling pathways in natural killer cells
Combinatorial ASO-mediated therapy with low dose SMN and the protective modifier Chp1 is not sufficient to ameliorate SMA pathology hallmarks
Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies
Major advances in neuromuscular disorders in the past two decades
Children with spinal muscular atrophy have reduced vertebral body height, depth and pedicle size in comparison to age-matched healthy controls
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
Label-free morphological sub-population cytometry for sensitive phenotypic screening of heterogenous neural disease model cells
Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK
X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey
Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey
Cognitive profiles and clinical factors in type III spinal muscular atrophy: A preliminary study
The cost-effectiveness of newborn screening for spinal muscular atrophy
Systemic DNA/RNA heteroduplex oligonucleotide administration for regulating the gene expression of dorsal root ganglion and sciatic nerve
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
Modulation of DNA transcription: The future of ASO therapeutics?
Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy
Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening
Effects of inhibitors of SLC9A-type sodium-protein exchangers on Survival Motor Neuron 2 (SMN2 ) mRNA splicing and expression
The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy patients: review of the literature and a meta-analysis
C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA)
Risk factors of tracheal extubation failure in children with spinal muscular atrophy combined with pneumonia
Multiple breath washout lung function reveals ventilation inhomogeneity unresponsive to mechanical assisted cough in patients with neuromuscular disease
Comprehensive analysis of spinal muscular atrophy (CASMA): SMN1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing
Mild androgen insensitivity syndrome: the current landscape
Therapeutic Decision-Making Under Uncertainty in the Management of Spinal Muscular Atrophy: Results From DECISIONS-SMA Study
Commentary: Current Status of Gene Therapy for Spinal Muscular Atrophy
DNAJB2 c.184C>T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy
A spectrum of recessiveness among Mendelian disease variants in UK Biobank
Impaired dynamic interaction of axonal endoplasmic reticulum and ribosomes contributes to defective stimulus-response in spinal muscular atrophy
Simultaneous quantification of SMN1 and SMN2 copy numbers by MALDI-TOF mass spectrometry for spinal muscular atrophy genetic testing
Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease – Case series and review
The Cure SMA Clinical Trial Experience Survey: A Study of Trial Participant Perspectives on Clinical Trial Management and Patient-Centric Management Practices
Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional Approach
Characteristics spinal and bulbar muscular atrophy in South Korea: a cross-sectional study of 157 patients
A Chemical Biology Perspective to Therapeutic Regulation of RNA Splicing in Spinal Muscular Atrophy (SMA)
Cas14a1-Mediated Nucleic Acid Diagnostics for Spinal Muscular Atrophy
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene
The Advent of Omics Sciences in Clinical Trials of Motor Neuron Diseases
The influence of tone on proximal femoral and acetabular geometry in neuromuscular hip displacement: A comparison of cerebral palsy and spinal muscular atrophy
Novel Use of Nusinersen as a Therapeutic Bridge to Onasemnogene Abeparvovec-xioi in a Premature Neonate with Type 1 Spinal Muscular Atrophy
Assessing Perspectives of Disease Burden and Clinically Meaningful Changes Using the Spinal Muscular Atrophy Health Index in Adolescents and Young Adults
SS-31 does not prevent or reduce muscle atrophy 7 days after a 65 kdyne contusion spinal cord injury in young male mice
Curing SMA: Are we there yet?
Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing
Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants
Clinical Utility of Repetitive Nerve Stimulation Test in Differentiating Multifocal Motor Neuropathy From Progressive Muscular Atrophy
Phase IIIb, Open-label, Multi-center Study to Evaluate Safety, Tolerability and Efficacy of OAV101 Administered Intrathecally to Participants With SMA Who Discontinued Treatment With Nusinersen or Risdiplam
DYNC1H1 de novo mutation, spinal muscular atrophy and attention problems
Onasemnogene abeparvovec gene replacement therapy for the treatment of spinal muscular atrophy: a real-world observational study
Safety of Onasemnogene Abeparvovec for Patients With Spinal Muscular Atrophy 8.5 kg or Heavier in a Global Managed Access Program
Bap1/SMN axis in Dpp4+ skeletal muscle mesenchymal cells regulates the neuromuscular system
Effect of lumbar muscle atrophy on the mechanical loading change on lumbar intervertebral discs
Response of plasma microRNAs to nusinersen treatment in patients with SMA
Fatal Thrombotic Microangiopathy Case following Adeno-Associated Viral SMN Gene Therapy
Association of Brain Atrophy With Disease Progression Independent of Relapse Activity in Patients With Relapsing Multiple Sclerosis
A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients’ and caregivers’ perspectives
Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients
Stress granules in the spinal muscular atrophy and amyotrophic lateral sclerosis: The correlation and promising therapy
An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy
Advanced Gene-Targeting Therapies for Motor Neuron Diseases and Muscular Dystrophies
Scientific rationale for a higher dose of nusinersen
Identification and Characterization TSSK6 Activating Co-chaperone (TSACC) in Skeletal Muscle
Dysregulation of Skeletal Muscle Mitochondrial Turnover and Dynamics Occurs During Late Symptomatic Stages of Spinal Muscular Atrophy
Motor Unit Recovery Following Smn Restoration in Mouse Models of Spinal Muscular Atrophy
Expression profiles of protein markers regulating the mitochondrial lifecycle in skeletal muscle of acute spinal cord transected rats
Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report
NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression
Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data
The Global Burden of Motor Neuron Disease: An Analysis of the 2019 Global Burden of Disease Study
Longer-term follow-up of nusinersen efficacy and safety in adult patients with spinal muscular atrophy types 2 and 3
Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant
Respiratory outcome of spinal muscular atrophy type 1 patients treated with nusinersen
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis
Gene-based treatment in spinal muscular atrophy
François-Amilcar Aran (1817-1861) and the recognition of spinal muscular atrophy
Predictive models in SMA II natural history trajectories using machine learning: A proof of concept study

Exploring Motor Neuron Diseases Using iPSC Platforms
Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients
Fluid and White Matter Suppression: New Sensitive 3 T Magnetic Resonance Imaging Contrasts for Cortical Lesion Detection in Multiple Sclerosis
Culture of Human iPSC-Derived Motoneurons in Compartmentalized Microfluidic Devices and Quantitative Assays for Studying Axonal Phenotypes
Correction to: Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls
Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases
Adeno-associated virus serotype 9 antibody titers in patients with SMA pre-screened for treatment with onasemnogene abeparvovec -routine care evidence
Finger trembling improvement after surgery in Hirayama disease: a case report
Motor Unit and Capillary Recruitment During Fatiguing Arm-Cycling Exercise in Spinal Muscular Atrophy Types 3 and 4
Stability of Serial Platelet and Urine Protein Measurements in Patients Receiving Nusinersen for Spinal Muscular Atrophy
Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy
Acute Benign Myositis Following Onasemnogene Abeparvovec Therapy in Type 1 Spinal Muscular Atrophy
High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts
Inflammation and Oxidative Stress as Common Mechanisms of Pulmonary, Autonomic and Musculoskeletal Dysfunction after Spinal Cord Injury
‘This battle, between your gut feeling and your mind. Try to find the right balance’: Parental experiences of children with spinal muscular atrophy during COVID-19 pandemic
A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
Short-term effect of air stacking and mechanical insufflation-exsufflation on lung function in patients with neuromuscular diseases
SMN-deficient cells exhibit increased ribosomal DNA damage
Onasemnogene abeparvovec for the treatment of spinal muscular atrophy
Spinal Muscular Atrophy -Is Newborn Screening Too Late for Children with Two SMN2 Copies?
Pre-symptomatic spinal muscular atrophy: a proposed nosology
Spinal muscular atrophy: Surviving respiratory failure, intensive care and pursuing creatively fulfilled life
A combinatorial approach increases SMN level in SMA model mice
Small nerves are a distinguishing feature of spinal and bulbar muscular atrophy (SBMA)
Copy number assessment of SMN1 based on real-time PCR with high-resolution melting: fast and highly reliable testing
Acoustic Change Over Time in Spastic and/or Flaccid Dysarthria in Motor Neuron Diseases
Antisense Oligonucleotide Induction of the hnRNPA1b Isoform Affects Pre-mRNA Splicing of SMN2 in SMA Type I Fibroblasts
SMN loss dysregulates microtubule-associated proteins in spinal muscular atrophy model
Multivalent DNA and nucleosome acidic patch interactions specify VRK1 mitotic localization and activity
Distribution of Weight, Stature and Growth Status in Children and Adolescents with Spinal Muscular Atrophy: An Observational Retrospective Study in the United States
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Health-related quality of life in Thai children with spinal muscular atrophy
Postural abnormalities in Asian and Caucasian Parkinson’s disease patients: A multicenter study
Survival motor neuron protein deficiency alters microglia reactivity
Protein Network Analysis Reveals a Functional Connectivity of Dysregulated Processes in ALS and SMA
Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)
Psychosocial impact of the COVID-19 pandemic and shielding in adults and children with early-onset neuromuscular and neurological disorders and their families: a mixed-methods study
Treatment of Adult Spinal Muscular Atrophy: Overview and Recent Developments
Child Neurology: Pathologically Confirmed Thrombotic Microangiopathy Caused by Onasemnogene Abeparvovec Treatment for Spinal Muscular Atrophy
Public participation: healthcare rationing in the newspaper media
Spinal Muscular Atrophy Therapeutics in India: Parental Hopes and Despair!
Epaxial muscle atrophy is more evident in large dogs with intervertebral disc disease than in dogs with ischaemic myelopathy
Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome
Activating ATF6 in Spinal Muscular Atrophy promotes SMN expression and motor neuron survival through the IRE1alpha-XBP1 pathway
The 4-copy conundrum in the treatment of infants with spinal muscular atrophy
Stathmins and Motor Neuron Diseases: Pathophysiology and Therapeutic Targets
Single-Dose Intrathecal Dorsal Root Ganglia Toxicity of Onasemnogene Abeparvovec in Cynomolgus Monkeys
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes
Reply to: The 4-copy conundrum in the treatment of infants with spinal muscular atrophy
Transforaminal lumbar puncture for spinal anesthesia or novel drug administration: a technique combining C-arm fluoroscopy and ultrasound
Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy
Risdiplam: an investigational motor neuron-2 (SMN-2) splicing modifier for spinal muscular atrophy (SMA)
Fatigue and activity-dependent conduction block in neuromuscular disorders
Disruption of Smn in glia impacts survival but has no effect on neuromuscular function in Drosophila
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese
Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy
Respiratory management of Spinal Muscular Atrophy type 1 patients treated with Nusinersen
Spinal muscular atrophy and the world’s most expensive medicines: The price of life
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
Characteristics and feasibility of ambulatory respiratory assessment of paediatric neuromuscular disease: an observational retrospective study
Reflex single-gene non-invasive prenatal testing is associated with markedly better detection of fetuses affected with single-gene recessive disorders at lower cost
The clinical utility of a risk-modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity
Antisense therapies in neurological diseases
Risdiplam: A Review in Spinal Muscular Atrophy
Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial
ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature
Affection of Respiratory Muscles in ALS and SMA
Zinc finger protein ZPR1: promising survival motor neuron protein-dependent modifier for the rescue of spinal muscular atrophy
Antisense Oligonucleotide Therapy: From Design to the Huntington Disease Clinic
Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy
Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay
Quantitative and Morphological Assessment of Computed Tomography-depicted Gynecomastia in Spinal and Bulbar Muscular Atrophy
An orally available, brain penetrant, small molecule lowers huntingtin levels by enhancing pseudoexon inclusion
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus)
Ultrasonographic evaluation reveals thinning of cervical nerve roots and peripheral nerves in spinal and bulbar muscular atrophy
Neurological symptoms and disorders following electrical injury: A register-based matched cohort study
Novel roles of phentolamine in protecting axon myelination, muscle atrophy, and functional recovery following nerve injury
SMA type 2 and 3 improvements over 2 years
General Anesthesia With Successful Immediate Post-operative Extubation for Sarcoma Excision in a 61-Year-Old Male With Kennedy’s Disease
New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study
Ethical aspects of the changing landscape for spinal muscular atrophy management in Australia
Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA
Management of Spinal Muscular Atrophy in the Adult Population
Correction to: Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)
A Case Report of Systemic Intoxication Following Onabotulinum Toxin A Injections Into the Salivary Glands in a Patient With Spinal Muscular Atrophy Type 1
Inhibition of Polyglutamine Misfolding with D-Enantiomeric Peptides Identified by Mirror Image Phage Display Selection
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
A Comprehensive Review of Neuromuscular Manifestations of COVID-19 and Management of Pre-Existing Neuromuscular Disorders in Children
The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials
Recent research on the treatment of spinal muscular atrophy
Correction to: Dramatic Innovations in the Treatment of Spinal Muscular Atrophy, But Many Unknowns Remain
Parents’ Perspectives on Diagnosis and Decision-Making regarding Ventilator Support in Children with SMA Type 1
Interfering RNA and antisense oligonucleotide treatments currently available in France: an update
Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy
Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study
Access to Innovative Neurological Drugs in Europe: Alignment of Health Technology Assessments Among Three European Countries
Body of Evidence for Onasemnogene Abeparvovec in Spinal Muscular Atrophy Supports Long-Term Duration of Effect Without Relapse

Spinal Muscular Atrophy Type IIIb Complicated by Moyamoya Syndrome: A Case Report and Literature Review
Nusinersen in Adults with 5q Spinal Muscular Atrophy: a Systematic Review and Meta-analysis
How to reconstruct the lordosis of cervical spine in patients with Hirayama disease? A finite element analysis of biomechanical changes focusing on adjacent segments after anterior cervical discectomy and fusion
Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy
Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol
Restoring SMN Expression: An Overview of the Therapeutic Developments for the Treatment of Spinal Muscular Atrophy
A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy
Induction of Survival of Motor Neuron (SMN) Protein Deficiency in Spinal Astrocytes by Small Interfering RNA as an In Vitro Model of Spinal Muscular Atrophy
Hip Pain in Patients With Spinal Muscular Atrophy: Prevalence, Intensity, Interference, and Factors Associated With Moderate to Severe Pain
Newborn infant screening for spinal muscular atrophy: Chances and challenges
Reverse split hand syndrome and distinctive spine imaging features in Hirayama disease
Ultrasound-guided transforaminal approach for nusinersen delivery in adult spinal muscle atrophy patients with challenging access
A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland
Spinal muscular atrophy type 2 patient who survived 61 years: an autopsy case report
Assessment of Health-Related Quality of Life in Adult Spinal Muscular Atrophy Under Nusinersen Treatment-A Pilot Study
Single-Tube Multiplex Digital Polymerase Chain Reaction Assay for Molecular Diagnosis and Prediction of Severity of Spinal Muscular Atrophy
Oral hygiene in patients with motor neuron disease: a cross-sectional survey
J wave syndromes in patients with spinal and bulbar muscular atrophy
Assessing the Value of Nusinersen for Spinal Muscular Atrophy: A Comparative Analysis of Reimbursement Submission and Appraisal in European Countries
A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)
Patients’ access to rare neuromuscular disease therapies varies across US private insurers
Newborn screening for spinal muscular atrophy: The Wisconsin first year experience
Biomarkers of disease progression in adolescents and adults with 5q spinal muscular atrophy: a systematic review and meta-analysis
A Patient-Centered Evaluation of Meaningful Change on the 32-Item Motor Function Measure in Spinal Muscular Atrophy Using Qualitative and Quantitative Data
Gene Therapy for Rare Neurological Disorders
Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen
Is treatment with oral risdiplam effective and well-tolerated for infants with spinal muscular atrophy type 1?
The changing therapeutic landscape of spinal muscular atrophy
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families
Nerve ultrasound detects abnormally small nerves in patients with Spinal and Bulbar Muscular Atrophy
Viral mediated knockdown of GATA6 in SMA iPSC-derived astrocytes prevents motor neuron loss and microglial activation
Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA
Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy
Computed Tomography-Guided Lumbar Puncture: Advantages and Disadvantages
Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model
Expert consensus on preimplantation genetic testing for spinal muscular atrophy
Targeting Alternative Splicing as Adjunctive Treatment in EML4-ALK v3a/b+ NSCLC: Knowing Our Socratic Paradox and Learning From Spinal Muscular Atrophy
Evaluation of vestibular-evoked myogenic potential for functional integrity of the brain stem in Kennedy’s disease
Protocol-driven early tracheal extubation in patients with flaccid neuromuscular scoliosis and pre-existing lung disease
Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis
Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders
Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients
Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study
Multi-modal MR imaging of the upper arm muscles of patients with Spinal Muscular Atrophy
Body mass index in type 2 spinal muscular atrophy: a longitudinal study
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4
How does risdiplam compare with other treatments for Types 1-3 spinal muscular atrophy: a systematic literature review and indirect treatment comparison
Spinal muscular atrophy
Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era
Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report
Short-term clinical outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy
Muscle “islands”: An MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness
Optimization of Long-Term Human iPSC-Derived Spinal Motor Neuron Culture Using a Dendritic Polyglycerol Amine-Based Substrate
Vitamin K Deficiency in the Setting of Blenderized Tube Feeding Regimen in a Teenager: A Case Report
The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia
The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs
Case report of pregnancy management and genetic evaluation after negative carrier screening for spinal muscular atrophy in an affected family
Nusinersen treatment in adults with severe spinal muscular atrophy: A real-life retrospective observational cohort study
Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene
Application Value of the Motor Unit Number Index in Patients With Kennedy Disease
Advances in research on biomarkers for spinal muscular atrophy
Potential Applications for Targeted Gene Therapy to Protect Against Anthracycline Cardiotoxicity: JACC: CardioOncology Primer
Spinal Muscular Atrophy Patient iPSC-Derived Motor Neurons Display Altered Proteomes at Early Stages of Differentiation
Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders
Pharmacological and clinical profile of Onasemnogene Aveparvovec, the first gene therapy for spinal muscular atrophy (SMA)
Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients
Early diagnosis of spinal muscular atrophy
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes
Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen
Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome
Genetic architecture of motor neuron diseases
Family, healthcare professional, and societal preferences for the treatment of infantile spinal muscular atrophy: a discrete choice experiment
Correction to: Nusinersen: A Review in 5q Spinal Muscular Atrophy
Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy
Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity
Coverage of genetic therapies for spinal muscular atrophy across fee-for-service Medicaid programs
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
Mortality in Neuromuscular Early Onset Scoliosis Following Spinal Deformity Surgery
Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls
Dramatic Innovations in the Treatment of Spinal Muscular Atrophy, But Many Unknowns Remain
Increased use of genetic health care in Iceland 2012-2017
Sleep breathing disorders in pediatric patients with spinal muscular atrophy 2
Non-Respiratory Complications of Nusinersen-Treated Spinal Muscular Atrophy Type 1
Assessment of cerebral spinal fluid biomarkers and microRNA-mediated disease mechanisms in spinal muscular atrophy patient samples
Protein network analysis to prioritize key genes in amyotrophic lateral sclerosis
Systematic Literature Review to Identify Utility Values in Patients with Spinal Muscular Atrophy (SMA) and Their Caregivers
Epidemiology, healthcare resource utilization and healthcare costs for spinal muscular atrophy in Alberta, Canada
Phase 3 Active Treatment Trial to Evaluate the Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Who Are Being Treated With Nusinersen or Risdiplam
KLF15 overexpression in myocytes fails to ameliorate ALS-related pathology or extend the lifespan of SOD1G93A mice
Development of the SMA independence scale-upper limb module (SMAIS-ULM): A novel scale for individuals with Type 2 and non-ambulant Type 3 SMA
[CASE REPORT] Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: a case report
Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
Patient and Caregiver Treatment Preferences in Type 2 and Non-ambulatory Type 3 Spinal Muscular Atrophy: A Discrete Choice Experiment Survey in Five European Countries
Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease
Peripherally delivered Adeno-associated viral vectors for spinal cord injury repair
Splicing efficiency of minor introns in a mouse model of SMA predominantly depends on their branchpoint sequence and can involve the contribution of major spliceosome components
Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model
Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I

Intellectual skills and speech abilities in children with SMA type 1
The SMA France national registry: already encouraging results
Fusionless spine instrumentations in neuromuscular scoliosis
Identification of specific gene methylation patterns during motor neuron differentiation from spinal muscular atrophy patient-derived iPSC
Anaesthetic considerations in posterior instrumentation of scoliosis due to spinal muscular atrophy: Case series of 56 operated patients
A case series of paediatric patients with spinal muscular atrophy type I undergoing scoliosis correction surgery
The economic impact of compassionate use of medicines
Implications of circulating neurofilamentsfor spinal muscular atrophytreatment early in life: A case series
Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients
7′,5′-alpha-bicyclo-DNA: new chemistry for oligonucleotide exon splicing modulation therapy
Nusinersen: A Review in 5q Spinal Muscular Atrophy
Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay
Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme
Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series
Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism
Central synaptopathy is the most conserved feature of motor circuit pathology across spinal muscular atrophy mouse models
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
A tale of two diseases: spinal muscular atrophy and Pompe disease
Use of prescriber requirements among US commercial health plans
Real-world safety of nusinersen in Japan: results from an interim analysis of a post-marketing surveillance and safety database
Cell Penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model
Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets
De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms
Spinal Muscular Atrophy with Respiratory Distress
Type 1: A Novel Variant of IGHMBP2 Gene
A novel CARM1-HuR axis involved in muscle differentiation and plasticity misregulated in spinal muscular atrophy
Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophy
Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report
Models for IGHMBP2-associated diseases: an overview and a roadmap for the future
Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen
Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated with Nusinersen
Wheelchair Hockey improves neuromuscular patients’ well-being
Evaluating Efficacy of Peptide-Delivered Oligonucleotides Using the Severe Taiwanese SMA Mouse Model
Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management
A Study to Investigate the Safety and Efficacy of RO7204239 in Combination With Risdiplam (RO7034067) in Ambulatory Children With Spinal Muscular Atrophy
Indoprofen exerts a potent therapeutic effect against sepsis by alleviating high mobility group box 1-mediated inflammatory responses
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study
Structurally Mapping Antigenic Epitopes of Adeno-Associated Virus 9: Development of Antibody Escape Variants
Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening
Mechanisms and Treatments in Demyelinating CMT
Wearable Robots: An Original Mechatronic Design of a Hand Exoskeleton for Assistive and Rehabilitative Purposes
The Antisense Oligonucleotide Nusinersen for Treatment of Spinal Muscular Atrophy
Risdiplam for the Use of Spinal Muscular Atrophy
Neurogenic arthrogryposis and the power of phenotyping
Spinal muscular atrophy: from rags to riches
Organotypic spinal cord cultures: An in vitro 3D model to preliminary screen treatments for spinal muscular atrophy
Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study
Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick Turn
The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects
Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy
Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis
Natural history of spinal muscular atrophy in children: an analysis of 117 cases
Camptocormia as the main manifestation of a mutation in the POLG gene
Nusinersen for Spinal Muscular Atrophy in the United States: Findings From a Retrospective Claims Database Analysis
Treatment with L-Citrulline in patients with post-polio syndrome: A single center, randomized, double blind, placebo-controlled trial
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review
Real-time MR tracking of AAV gene therapy with βgal-responsive MR probe in a murine model of GM1-gangliosidosis
Genetic screening techniques and diseases for neonatal genetic diseases
Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord
A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M ) in Als Patients with Pure Lower Motor Neuron Presentation
Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots
Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents
A Machine-Learning Method of Predicting Vital Capacity Plateau Value for Ventilatory Pump Failure Based on Data Mining
Methodological challenges in measuring meaningful change in individuals with spinal muscular atrophy
Efficacy and Safety of Intrathecal OAV101 (AVXS-101) in Pediatric Patients With Type 2 Spinal Muscular Atrophy (SMA)
Enhanced pro-BDNF-p75NTR pathway activity in denervated skeletal muscle
Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases
Generation of DMBi002-A human induced pluripotent stem cell line from patient with Spinal muscular atrophy type 3
(1)H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
Spinal muscular atrophy: epidemiology and health burden in children – a Polish national healthcare database perspective before introduction of SMA-specific treatment
Capsid-Engineering for Central Nervous System-Directed Gene Therapy with Adeno-Associated Virus Vectors
Preferences and Utilities for Treatment Attributes in Type 2 and Non-ambulatory Type 3 Spinal Muscular Atrophy in the United Kingdom
Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)
Continuous noninvasive ventilatory support outcomes for patients with neuromuscular disease: a multicenter data collaboration
Gene Therapy Approach with an Emphasis on Growth Factors: Theoretical and Clinical Outcomes in Neurodegenerative Diseases
Newborn screening program for spinal muscular atrophy
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis
Targeting the RNA-Binding Protein HuR as Potential Thera-Peutic Approach for Neurological Disorders: Focus on Amyo-Trophic Lateral Sclerosis (ALS), Spinal Muscle Atrophy (SMA) and Multiple Sclerosis
Antisense oligonucleotides: absorption, distribution, metabolism, and excretion
Gene Replacement Therapy for Spinal Muscular Atrophy Unmasking Occult Hepatitis C in a Pediatric Patient
Regulation of Survival Motor Neuron Gene Expression by Calcium Signaling
Intravenous Tranexamic Acid Reduces Blood Loss and Transfusion Volume in Scoliosis Surgery for Spinal Muscular Atrophy: Results of a 20-Year Retrospective Analysis
Hybrid versus total sublaminar wires in patients with spinal muscular atrophy undergoing scoliosis surgery
Hirayama Disease in a Patient with a History of Late-Onset Symptomatic Vein of Galen Aneurysmal Malformation
Hyper-SUMOylation of SMN induced by SENP2 deficiency decreases its stability and leads to spinal muscular atrophy-like pathology
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
Addressing today’s ADME challenges in the translation of in vitro absorption, distribution, metabolism and excretion characteristics to human: A case study of the SMN2 mRNA splicing modifier risdiplam
Effect of the COVID-19 Pandemic on Children With SMA Receiving Nusinersen: What Is Missed and What Is Gained?
Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year
Newborn screening of neuromuscular diseases
Systematic review and meta-analysis determining the benefits of in vivo genetic therapy in spinal muscular atrophy rodent models
A Study to Evaluate Higher Dose (HD) Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Previously Treated With Risdiplam
Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue
Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy
Electrodiagnostic Assessment of Motor Neuron Disease
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
Motor Neuron Diseases and Neuroprotective Peptides: A Closer Look to Neurons
Interactive effect of sarcopenia and falls on vertebral osteoporotic fracture in patients with rheumatoid arthritis
Polyminimyoclonus in Hirayama disease
Cognitive Impairment in Adult Patients with 5q-Associated Spinal Muscular Atrophy
Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen

Alternative Splicing Role in New Therapies of Spinal Muscular Atrophy
CSF Diagnostics: A Potentially Valuable Tool in Neurodegenerative and Inflammatory Disorders Involving Motor Neurons: A Review
Generation of Human Motor Units with Functional Neuromuscular Junctions in Microfluidic Devices
Louis Duménil (1823-1890), surgeon and pioneer in neurology
What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions
Spinal Muscular Atrophy: A Potential Target for in Utero Therapy
Neuromuscular Diseases Affect Number Representation and Processing: An Exploratory Study
Defining the optimal dose and therapeutic window in SMA with respiratory distress type I model mice, FVB/NJ-Ighmpb2 nmd-2J
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