Pending

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
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
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress
Is CSF amyloidbeta42 a promising biomarker of response to nusinersen in adult spinal muscular atrophy patients?
Intracellular trafficking of adeno-associated virus (AAV) vectors: challenges and future directions
Early death of ALS-linked CHCHD10-R15L transgenic mice with central nervous system, skeletal muscle, and cardiac pathology
Cerebrospinal Fluid Parameters in Antisense Oligonucleotide-Treated Adult 5q-Spinal Muscular Atrophy Patients
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era
Axonal mRNA localization and local translation in neurodegenerative disease
Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy
Endosomal escape cell-penetrating peptides significantly enhance pharmacological effectiveness and CNS activity of systemically administered antisense oligonucleotides
Response to letter: A decision for life – Treatment decisions in newly diagnosed families with spinal muscular atrophy
Gene Therapy for Monogenic Inherited Disorders
Clinical Outcome of Adult Spinal Muscular Atrophy Patients Treated with Nusinersen: A Case Series Review
A Systematic Review of Procedural Complications from Transforaminal Lumbar Puncture for Intrathecal Nusinersen Administration in Patients with Spinal Muscular Atrophy
Risdiplam in Type 1 Spinal Muscular Atrophy
Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study
Skin necrosis in spinal muscular atrophy: Case report and review of the literature
“I have SMA, SMA doesn’t have me”: a qualitative snapshot into the challenges, successes, and quality of life of adolescents and young adults with SMA
A Study to Investigate the Effect of Hepatic Impairment on the Pharmacokinetics and Safety and Tolerability of a Single Oral Dose of Risdiplam Compared to Matched Healthy Participants With Normal Hepatic Function
Nusinersen treatment of older children and adults with spinal muscular atrophy
Stakeholder perspectives of pediatric powered wheelchair standing devices: a qualitative study
Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross-sectional study
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study
Minimal detectable change and minimal clinically important differences in spinal muscular atrophy patients
An Open-label Safety, Tolerability, and Dose-range Finding Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA)
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease
A Study to Assess the Efficacy, Safety and Pharmacokinetics of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy (SMA)
A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy
A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Participants With Later-onset Spinal Muscular Atrophy (SMA)
A Study to Assess the Safety and Tolerability of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA).
Delivery of Nusinersen Through an Ommaya Reservoir in Spinal Muscular Atrophy
An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy Who Previously Participated in ISIS 396443-CS1 (NCT01494701)
An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in ISIS 396443-CS2 (NCT01703988) or ISIS 396443-CS10 (NCT01780246)
Long Term Safety of Amifampridine Phosphate in Spinal Muscular Atrophy 3
The cost of specialized medical care of children under spinal muscular atrophy in Moscow
U7 snRNA: a tool for gene therapy
Preserved eye movements in adults with spinal muscular atrophy
Motor unit reserve capacity in spinal muscular atrophy during fatiguing endurance performance
A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report
Erratum to “Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?”
A subset of SMN complex members have a specific role in tissue regeneration via ERBB pathway-mediated proliferation
Lumbar Puncture Opening Pressure in Patients with Spinal Muscular Atrophy
Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
Costs of Illness of Spinal Muscular Atrophy: A Systematic Review
Do we always need to treat patients with spinal muscular atrophy? A personal view and experience
Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions
Nusinersen treatment of Spinal Muscular Atrophy Type 1 – results of expanded access programme in Poland
In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy
Coexistence of Spinal Muscular Atrophy Type 1 and Factor X1 Deficiency
Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots
Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy
Parents’ perspectives on nusinersen treatment for children with spinal muscular atrophy
Post-dural puncture headache-a single-centre analysis in paediatric patients with and without SMA
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy
SMN depleted mice offer a robust and rapid onset model of non-alcoholic fatty liver disease
Spinal muscular atrophy: an update for managed care pharmacists
Updates in clinical data for FDA-approved disease-modifying therapies for spinal muscular atrophy
Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1
Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance
Gene-based therapies for neurodegenerative diseases
Gene-Targeted Therapies and Palliative Care in Children with Spinal Muscular Atrophy Type I: No Intrinsic Contradiction
Transient hyperreflexia: An early diagnostic clue in later-onset spinal muscular atrophy
Extension Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Who Previously Participated in a Study With Nusinersen
Ultra-low radiation dose protocol for CT-guided intrathecal nusinersen injections for patients with spinal muscular atrophy and severe scoliosis
A novel Xp11.22-22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy
Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA
A case of proximal-type Hirayama disease associated with neck axial rotation
Gene-Targeting Therapeutics for Neurological Disease: Lessons Learned from Spinal Muscular Atrophy
The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy
Safety and efficacy of nusinersen in spinal muscular atrophy: the EMBRACE study
Management of Spinal Disorders in Parkinson’s Disease
PLEKHG5: Merging phenotypes and disease mechanisms in Charcot Marie Tooth neuropathy and lower motor neuron disease
Nutritional Therapy in Children with Spinal Muscular Atrophy in the Era of Nusinersen
Nutrition status survey of type 2 and 3 spinal muscular atrophy in Chinese population
Peri-operative management of children with spinal muscular atrophy
Circulating microRNAs as potential biomarkers and therapeutic targets in spinal muscular atrophy
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments
Bioavailability and Bioequivalence of Two Risdiplam Tablets in Healthy Participants
Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran
Quantification of disease progression in spinal muscular atrophy with muscle MRI-a pilot study
Stress induced ketoacidosis in spinal muscular atrophy. Report of one case
Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment
Severe Atrophy of the Ipsilateral Psoas Muscle Associated with Hip Osteoarthritis and Spinal Stenosis-A Case Report
Structure of SRSF1 RRM1 bound to RNA reveals an unexpected bimodal mode of interaction and explains its involvement in SMN1 exon7 splicing
Infantile spinal muscular atrophy -the potential for cure of a fatal disease
Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen
Erratum: A consensus statement on spinal muscular atrophy management in Saudi Arabia in the context of COVID-19
Spinal Muscular Atrophy Type 3 Showing a Specific Pattern of Selective Vulnerability on Muscle Ultrasound
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy
Targeting RNA with small molecules: from fundamental principles towards the clinic
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2
Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review
Effects of Survival Motor Neuron Protein on Germ Cell Development in Mouse and Human

The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases
First small-molecule drug targeting RNA gains momentum
Effect of Nusinersen in a late onset spinal muscular atrophy patient for 14 months: A case report
Incorporating spinal muscular atrophy analysis by next-generation sequencing into a comprehensive multigene panel for neuromuscular disorders
Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec -A Single Centre Experience
Spinal Muscular Atrophy: In the Challenge Lies a Solution
Development and Use of Gene Therapy Orphan Drugs-Ethical Needs for a Broader Cooperation Between the Pharmaceutical Industry and Society
Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study)
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR
Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes
Microtubule associated protein 1B dysregulates microtubule dynamics and neuronal mitochondrial transport in Spinal Muscular Atrophy
Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)
Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study
Safety, Tolerability, and Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular Atrophy
Quality of life in children and adolescents with Spinal Muscular Atrophy
Prevalence of long-term mechanical insufflation-exsufflation in children with neurological conditions: a population-based study
Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study
COVID-19 in children with neuromuscular disorders
Spinal motor neuron loss occurs through a p53-and-p21-independent mechanism in the Smn(2B/-) mouse model of spinal muscular atrophy
Continuous lengthening potential after four years of magnetically controlled spinal deformity correction in children with spinal muscular atrophy
Fatherhood achieved in a case of nonobstructive azoospermia with Kennedy’s disease via microdissection testicular sperm extraction and ICSI: A case report and literature review
How to Build and to Protect the Neuromuscular Junction: The Role of the Glial Cell Line-Derived Neurotrophic Factor
Cognitive Performance of Patients with Adult 5q-Spinal Muscular Atrophy and with Amyotrophic Lateral Sclerosis
Rare cause of unilateral upper limb weakness in a young adolescent
Correlation of Pulmonary Function to Novel Radiographic Parameters of Collapsing Parasol Deformity in Spinal Muscular Atrophy
Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies
The atlas of RNase H antisense oligonucleotide distribution and activity in the CNS of rodents and non-human primates following central administration
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation
Infantile spinal muscular atrophy (SMA)
Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease)
Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA)
Clinical features of spinal muscular atrophy (SMA) type 2
Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease)
Functional and surgical treatments in patients with spinal muscular atrophy (SMA)
Respiratory management of children with spinal muscular atrophy (SMA)
Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA)
State of the art for motor function assessment tools in spinal muscular atrophy (SMA)
Multidisciplinary approach and psychosocial management of spinal muscular atrophy (SMA)
Ethical aspects in the care of a child with infantile spinal muscular atrophy (SMA)
Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy
A Decision for Life – Treatment decisions in newly diagnosed families with spinal muscular atrophy (SMA)
Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons
The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis
Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)
Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy
Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases
Exosc2 deficiency leads to developmental disorders by causing a nucleotide pool imbalance in zebrafish
A rapid molecular diagnostic method for spinal muscular atrophy
Generalized Hypotonia Revealing Spinal Muscular Atrophy Type 2: The First Case Reported From the Dominican Republic and a Review of the Literature
New Therapeutics Options for Pediatric Neuromuscular Disorders
Spinal Muscular Atrophy and Communicating Hydrocephalus: A Novel or a Well-Established Rare Association?
Gene specific therapies – the next therapeutic milestone in neurology
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy
U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing
Spinal Muscular Atrophy Type 1 With Exon 8 Deletion and Bilateral Optic Atrophy
SQSTM1L341V variant that is linked to sporadic ALS exhibits impaired association with MAP1LC3 in cultured cells
Current Clinical Applications of in vivo Gene Therapy with AAVs
Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis
Respiratory outcomes post nusinersen in spinal muscular atrophy type 1
Children and young adults with spinal muscular atrophy treated with nusinersen
Identification of SRSF10 as a regulator of SMN2 ISS-N1
Hirayama Disease can be Caused by Loss of Attachment of the Cervical Posterior Dura to the Pedicle due to Immunological Abnormalities of the Dura and Posterior Ligaments: A New Hypothesis
Drug Screening and Drug Repositioning as Promising Therapeutic Approaches for Spinal Muscular Atrophy Treatment
The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy
The Burden of Spinal Muscular Atrophy on Informal Caregivers
A review of the effects and molecular mechanisms of dimethylcurcumin (ASC-J9) on androgen receptor-related diseases
A Neurexin2aa deficiency results in axon pathfinding defects and increased anxiety in zebrafish
Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center
Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease
Altered supraspinal motor networks in survivors of poliomyelitis: A cortico-muscular coherence study
Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation
Of rAAV and Men: From Genetic Neuromuscular Disorder Efficacy and Toxicity Preclinical Studies to Clinical Trials and Back
Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series
Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial
Targeting Nrf2 for the treatment of Duchenne Muscular Dystrophy
Accessory spinal nerve damage during a cervical lymph node biopsy: case report
Short-duration splice promoting compound enables a tunable mouse model of spinal muscular atrophy
Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy
Respiratory Complications of Pediatric Neuromuscular Diseases
Advances in Treatments in Muscular Dystrophies and Motor Neuron Disorders
Economic burden of spinal muscular atrophy: an analysis of claims data
Impact of a national population-based carrier-screening program on spinal muscular atrophy births
Chronic pharmacological increase of neuronal activity improves sensory-motor dysfunction in spinal muscular atrophy mice
Correlates of fatigability in patients with spinal muscular atrophy
Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases
Disorders of sleep in spinal and bulbar muscular atrophy (Kennedy’s disease)
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies
Increased C-X-C Motif Chemokine Ligand 12 Levels in Cerebrospinal Fluid as a Candidate Biomarker in Sporadic Amyotrophic Lateral Sclerosis
First Oral Drug Approved for Spinal Muscular Atrophy
Spinal Muscular Atrophy With Exaggerated Deep Tendon Reflexes and Scapular Winging: An Atypical Presentation
Sleep and Breathing After Nusinersen Therapy in a Child With Spinal Muscular Atrophy
Functional abnormalities of cerebellum and motor cortex in spinal muscular atrophy mice
Persistent Pseudomonas Aeruginosa infection associated with non-invasive ventilation in a child with spinal muscular atrophy type 1
Corrigendum to: Pharmacologically-induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset
Unusual inclusions in cerebrospinal fluid macrophages of spinal muscular atrophy patients treated with nusinersen
Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project
Disease Acceptance and Eudemonic Well-Being Among Adults With Physical Disabilities: The Mediator Effect of Meaning in Life
Bioinformatic analysis of SMN1-ACE/ACE2 interactions hinted at a potential protective effect of spinal muscular atrophy against COVID-19-induced lung injury

Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1
Pediatric neuromuscular disorders: Care considerations during the COVID-19 pandemic
Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy
The characteristics of self-care in children with spinal muscular atrophy: an integrative review
Early experiences of Nusinersen for the Treatment of Spinal Muscular Atrophy: Results from a large survey of patients and caregivers
Treatment of patients with spinal muscular atrophy 5q: Towards a new protocol
Efficacy and costs of spinal muscular atrophy drugs
Repeat RNA expansion disorders of the nervous system: post-transcriptional mechanisms and therapeutic strategies
Deubiquitinase USP7 contributes to the pathogenicity of spinal and bulbar muscular atrophy
Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings
Cervical rotation, chest deformity and pelvic obliquity in patients with spinal muscular atrophy
A Rare Case of a Primary Spinal Solitary Fibrous Tumor/Hemangiopericytoma in a 9-Month-Old Patient
Epigenetics of neuromuscular disorders
A Single Amino Acid Residue Regulates PTEN-Binding and Stability of the Spinal Muscular Atrophy Protein SMN
Defective minor spliceosomes induce SMA-associated phenotypes through sensitive intron-containing neural genes in Drosophila
A case of Isaacs’ syndrome associated with spinal muscular atrophy
High-throughput screening reveals novel mutations in spinal muscular atrophy patients
SMN protein promotes membrane compartmentalization of ribosomal protein S6 transcript in human fibroblasts
Nusinersen in type 0 spinal muscular atrophy: should we treat?
SMN Protein Contributes to Skeletal Muscle Cell Maturation Via Caspase-3 and Akt Activation
ATP7A mutation with occipital horns and distal motor Neuropathy: a continuum
Mid-term results of a modified self-growing rod technique for the treatment of early-onset scoliosis
Management of Rare Causes of Pediatric Chronic Respiratory Failure
Real-world respiratory and bulbar comorbidities of SMA type 1 children treated with nusinersen: 2-Year single centre Australian experience
Current and emerging therapies for Duchenne muscular dystrophy and spinal muscular atrophy
Outcomes in type 1 spinal muscular atrophy on nusinersen: A single center experience
Translating Molecular Technologies into Routine Newborn Screening Practice
Combination molecular therapies for SMA: How much is enough?
Assessment of respiratory muscles and motor function in children with SMA treated by Nusinersen
Precision Medicine in Neurology: The Inspirational Paradigm of Complement Therapeutics
Pre-Symptomatic Study of Intravenous Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2
Adaptive skills and mental health in children and adolescents with neuromuscular diseases
Nusinersen for Spinal Muscular Atrophy Type 1: Real-World Respiratory Experience
Modulating the ER stress response attenuates neurodegeneration in a C. elegans model of spinal muscular atrophy
Motor unit gains in treated spinal muscular atrophy patients
Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen
Cell-Based Therapy for Spinal Muscular Atrophy
The Cure SMA Membership Surveys: Highlights of Key Demographic and Clinical Characteristics of Individuals with Spinal Muscular Atrophy
Neurotrophic Properties of C-Terminal Domain of the Heavy Chain of Tetanus Toxin on Motor Neuron Disease
The Respiratory Impact of Novel Therapies for Spinal Muscular Atrophy
Multicenter Experience with Nusinersen Application via an Intrathecal Port and Catheter System in Spinal Muscular Atrophy
Clinical and Radiological Profile of patients with Spinal Muscular Atrophy type 4
Expression of huntingtin-associated protein 1 in adult mouse dorsal root ganglia and its neurochemical characterization in reference to sensory neuron subpopulations
Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice
Rectal Prolapse After Laparoscopically Assisted Anorectoplasty for Anorectal Malformations
A Case of Cervical Spondylotic Amyotrophy Mimicking Amyotrophic Lateral Sclerosis
Brain MRI abnormalities in a child with spinal muscular atrophy type II
Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy
A Drug-drug Interaction Study With Risdiplam Multiple Dose and Midazolam in Healthy Participants
Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A
Conditional deletion of SMN in cell culture identifies functional SMN alleles
Novel TRPV4 mutation in a large Chinese family with congenital distal spinal muscular atrophy, skeletal dysplasia and scaly skin
Survival motor neuron protein regulates oxidative stress and inflammatory response in microglia of the spinal cord in spinal muscular atrophy
Insulin-like growth factor-1 status is associated with insulin resistance in young patients with spinal muscular atrophy
Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models
Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA
A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study
Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences
Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots
Synthetically Engineered Adeno-Associated Virus for Efficient, Safe, and Versatile Gene Therapy Applications
Beyond the Traditional Clinical Trials for Amyotrophic Lateral Sclerosis and The Future Impact of Gene Therapy
Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center Experience
Our initial experiences with intravenous gene therapy for spinal muscular atrophy in children
Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study
Electrodiagnostic Evaluation Of Motor Neuron Disease
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing & Follow-up Recommendations
Discovery of a CNS penetrant small molecule SMN2 splicing modulator with improved tolerability for spinal muscular atrophy
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
Prolonged distal latency of the median motor nerve is associated with poor prognosis in amyotrophic lateral sclerosis
Spinal muscular atrophy – insights and challenges in the treatment era
SMN1 copy-number and sequence variant analysis from next-generation sequencing data
Extraneuronal Phenotypes of Spinal Muscular Atrophy
Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening program
Ultrasound-guided lumbar puncture for nusinersen administration in Spinal Muscular Atrophy (SMA) patients
Addendum: Technical standards and guidelines for spinal muscular atrophy testing
Risdiplam: First Approval
Cost effectiveness of nusinersen for patients with infantile-onset spinal muscular atrophy in US
Cardiac findings in pediatric patients with spinal muscular atrophy types 2 and 3
Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
An observational cohort study on impact, dimensions and outcome of perceived fatigue in adult 5q-spinal muscular atrophy patients receiving nusinersen treatment
Reliability and Validity of the Korean Version of the Spinal and Bulbar Muscular Atrophy Functional Rating Scale
Home Noninvasive Ventilation in Pediatric Patients With Neuromuscular Diseases: One Size Fits All
The Dual Nature of Onuf’s Nucleus: Neuroanatomical Features and Peculiarities, in Health and Disease
Sometimes they come back: new and old SMA adults in the era of nusinersen
Split-hand sign: clinical feature of spinal bulbar muscular atrophy?
Spinal Muscular Atrophy
Heterogeneous Nuclear Ribonucleoproteins: Implications in Neurological Diseases
ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene
Research progress in drug therapies of spinal muscular atrophy
Spinal muscular atrophy – the dawning of a new era
The effects of non-invasive mechanical ventilation on cardiac autonomic dysfunction in spinal muscular atrophy
Long non-coding RNAs in motor neuron development and disease
Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1
Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction
Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy
Cutaneous silent period in patients with spinal muscular atrophy type 2 and type 3
Gynecomastia on computed tomography: a helpful finding for the diagnosis of spinal and bulbar muscular atrophy
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies
Assessment of the validity and reliability of the 32-item Motor Function Measure in individuals with Type 2 or non-ambulant Type 3 spinal muscular atrophy

Split hand and motor axonal hyperexcitability in spinal and bulbar muscular atrophy
Natural History of Type 1 Spinal Muscular Atrophy in a Series of Argentinian Children
The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Through a Nationwide, Pan-Neuromuscular Disease Registry
Neuroanatomical Models of Muscle Strength and Relationship to Ambulatory Function in Spinal Muscular Atrophy
Clinical variability in spinal muscular atrophy type III
Two Years of Improved Neurological Function With Nusinersen in a 48-Year-Old Patient With Spinal Muscular Atrophy Type 3
Quantitative description of upper extremity function and activity of people with spinal muscular atrophy
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
Spinal muscular atrophy – challenges in the therapeutic era
Magnetization transfer ratio – a quantitative imaging biomarker for 5q spinal muscular atrophy
Intrathecal Access Through Suboccipital Port in Patients With Spinal Muscular Atrophy and Complex Spines: Case Series and Technical Note
Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy – A pilot study
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA
Discovery of specific mutations in spinal muscular atrophy patients by next-generation sequencing
Gain and loss of abilities in type II SMA: A 12-month natural history study
A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation
NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study
The Impact of Lung Volume Recruitment on Pulmonary Function in Progressive Childhood Onset Neuromuscular Disease: A Systematic Review
Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study
A Study of CK-2127107 in Patients With Spinal Muscular Atrophy
Development of Antisense Oligonucleotide Gapmers for the Treatment of Dyslipidemia and Lipodystrophy
Novel Therapies for Spinal Muscular Atrophy are Likely Changing the Patient Phenotype
Spinal Muscular Atrophy: Autopsy Based Neuropathological Demonstration
MUNIX in children with spinal muscular atrophy: an unexpected journey
Validity and Reliability of the 32-Item Motor Function Measure in 2- to 5-Year-Olds with Neuromuscular Disorders and 2- to 25-Year-Olds with Spinal Muscular Atrophy
ClC-2-like Chloride Current Alterations in a Cell Model of Spinal and Bulbar Muscular Atrophy, a Polyglutamine Disease
Editorial: Spinal Muscular Atrophy: Evolutions and Revolutions of Modern Therapy
Harmony Lost: Cell-Cell Communication at the Neuromuscular Junction in Motor Neuron Disease
Kennedy’s disease: an under-recognized motor neuron disorder
Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey
Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers
AAV9-DOK7 gene therapy reduces disease severity in Smn2B/- SMA model mice
LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy
Use of three-dimensional printing of a lumbar skeletal model for intrathecal administration of nusinersen: a brief technical report
Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 Patients
Targeted delivery for neurodegenerative disorders using gene therapy vectors: Gen next therapeutic goals
Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy
Impact of growth friendly interventions on spine and pulmonary outcomes of patients with spinal muscular atrophy
Neuroprotection: Targeting Multiple Pathways by Naturally Occurring Phytochemicals
Improvement of Pulmonary Function Measured by Patient-reported Outcomes in Patients With Spinal Muscular Atrophy After Growth-friendly Instrumentation
Nusinersen treatment of spinal muscular atrophy – a systematic review
Generation of a spinal muscular atrophy type III patient-specific induced pluripotent stem cell line ICGi003-A
A Crucial Role for the Protein Quality Control System in Motor Neuron Diseases
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification
Successful Combination of Neuraxial and Regional Anesthesia in a Child With Advanced Spinal Muscular Atrophy Type 1 Receiving Maintenance Nusinersen Therapy: A Case Report
Minimal Clinically Important Differences in Functional Motor Scores in Adult Patients with Spinal Muscular Atrophy
Ultrasound-assisted intrathecal injection of nusinersen in a patient with severe vertebral deformity: a case report
Possible recurrent aseptic meningitis associated with nusinersen therapy
Motor Neuron Disease
Administration of nusinersen via paramedian approach for spinal muscular atrophy
Intraoperative Pulmonary Embolism in an Adolescent Patient with Type III Spinal Muscular Atrophy: A Case Report
Neuromuscular disorders in pregnancy
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy
The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An Analysis across Europe
Analysis of genetic variant in a child with concomitant spinal muscular atrophy and Citrin protein deficiency
Spinal muscular atrophy with an overlapping syndrome – “double trouble” or a potentially better outcome?
Socioeconomic status and uptake of reproductive carrier screening in Australia
Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up
Muscle strength and motor function in adolescents and adults with spinal muscular atrophy
Myoglobin: A new biomarker for spinal and bulbar muscular atrophy?
Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study
Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy
Sleep Disordered Breathing: Assessment and Therapy in the Age of Emerging Neuromuscular Therapies
Diagnostic Testing for Patients with Spinal Muscular Atrophy
Comment on: “Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy” by Zhou et al
Response to provincial governments’ decisions regarding monitoring for adults with Spinal Muscular Atrophy
Spinal Muscular Atrophy in Blonde D’Aquitaine Calves Is Not Associated With FVT1 Gene Mutation
SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype
Spinal Muscular Atrophy in the Treatment Era
The authors reply: Letter on: “Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy ” by Zhou et al
Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA
Author response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
Spinal Muscle Atrophy
SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation
Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory insufficiency in slowly progressive neuromuscular disorders
Viral-Mediated Gene Replacement Therapy in the Developing Central Nervous System: Current Status and Future Directions
Healthcare Utilization, Costs of Care, and Mortality Among Psatients With Spinal Muscular Atrophy
A consensus statement on spinal muscular atrophy management in Saudi Arabia in the context of COVID-19
Quantitative MRI of skeletal muscle in a cross-sectional cohort of patients with spinal muscular atrophy types 2 and 3
Health-related quality of life, self-reported impairments and activities of daily living in relation to muscle function in post-polio syndrome
Autophagy and Polyglutamine Disease
Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere
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Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation
Nusinersen in adult patients with spinal muscular atrophy: Observations from a single center
Carrier screening of spinal muscular atrophy in North Indian population and its public health implications
Cost-Effectiveness of Nusinersen and Universal Newborn Screening for Spinal Muscular Atrophy
Therapeutic antisense oligonucleotides for movement disorders
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants
Cervical Kyphosis in Spinal Muscular Atrophy: A Case Report
Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy
Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.
Respiratory assessment in a spinal muscular atrophy infant treated with nusinersen.
Economic burden of spinal muscular atrophy in the United States: a contemporary assessment.
Gene therapeutic strategies and relevant clinical trials in neuromuscular disorder in China.
Natural history data in adults with SMA
Improving Temporomandibular Range of Motion in People With Duchenne Muscular Dystrophy and Spinal Muscular Atrophy.

A Novel Adverse Event of Nusinersen Treatment: Thrombocytosis.
Measuring Outcomes in Adults with Spinal Muscular Atrophy – Challenges and Future Directions – Meeting Report.
[Molecular therapies in childhood neuromuscular disorders-definite hope versus unknown pitfalls].
Calculation of the prevalence of progressive muscular atrophy among adults in China based on urban medical insurance data from 15 provinces
Werdnig Hoffmann Disease
Hirayama Disease (Non-progressive Juvenile Spinal Muscular Atrophy)
Autosomal Dominant TRPV4 Disorders
Spinal Muscular Atrophy