- 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