Hirayama disease: an uncommon cause of motor neuron disease.

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

Outcomes of combination therapy with nusinersen, onasemnogene abeparvovec, and risdiplam over 3.5 years in a patient with prenatally diagnosed spinal muscular atrophy type 0: A case report.

Spinal Muscular Atrophy-Survivorship and Care in a New Therapeutic Landscape.

Electrophysiological assessment of motor unit loss in adult spinal muscular atrophy types III and IV: a multicenter national study comparing MUNIX, CMAP, and MUSIX.

Disparities in Spinal Muscular Atrophy-Related Mortality in the United States, 2018-2023.

Microvascular pathology in the spinal cord of severe spinal muscular atrophy patients.

Spinal muscular atrophy among US Hutterites: Phenotype variability in the setting of conserved ancestral haplotype and 4 SMN2 copies.

Longitudinal assessment of respiratory status utilising the amended Great Ormond Street Respiratory Score in treated spinal muscular atrophy type 1 children.

CSF and plasma GFAP and VEGF in adult type 3 spinal muscular atrophy patients treated with nusinersen.

Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith Scale.

Beyond motor function: cognitive and language impairments in spinal muscular atrophy children treated with modern therapies.

Effectiveness of Risdiplam Treatment in Adult Patients With Spinal Muscular Atrophy Type IIb-III.

285th ENMC international workshop: SMN-associated neurodevelopmental disorder: type 1 spinal muscular atrophy and the brain, 31st January - 2nd February 2025, Hoofddorp, The Netherlands.

Motor unit magnetic resonance imaging (MUMRI) as a novel biomarker of muscle activity in spinal muscular atrophy.

Fusionless spinal surgery in children with spinal muscular atrophy type 1 with bipolar system: a preliminary communication.

New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA).

Effectiveness and Safety of Nusinersen Among Adults with 5q-Spinal Muscular Atrophy: A Multicenter Disease Registry in China.

Dutch rehabilitation physicians' perspectives on contracture management in children with spinal muscular atrophy: challenges in a changing landscape.

Body Weight and Range of Motion as Predictors of Trunk Asymmetry in Children With Spinal Muscular Atrophy: A Prospective Functional Assessment.

Real-world evidence of Nusinersen treatment for patients with spinal muscular atrophy in the Kingdom of Saudi Arabia: Initial insights from the Saudi national spinal muscular atrophy program.

Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial.

[Duchenne de Boulogne: Pioneer of Neurology].

Effects of physical therapy on motor ability in patients with spinal muscular atrophy III: a study protocol for a randomised controlled trial.

[Onasemnogene abeparvovec gene replacement therapy for spinal muscular atrophy in children: a Moscow experience].

Implementation Timeframes for the Addition of New Conditions to Newborn Bloodspot Screening Programmes: A Scoping Review.

Course of joint range of motion in children with spinal muscular atrophy receiving disease-modifying treatment.

French-Belgian consensus statement to managing spinal deformities in children with spinal muscular atrophy treated with SMN restoring therapies.

Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q-Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study.

Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts.

Respiratory effects of nusinersen treatment in pediatric patients with spinal muscular atrophy types 2 and 3.

Central eye movement abnormalities in patients with SMA types II and III.

Value of creatine kinase and creatinine as biomarkers in nusinersen-treated children with spinal muscular atrophy.

Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1.

[Neuromuscular diseases in pediatrics with specific treatments].

[Results in our symptomatic and presymptomatic SMA patients treated with disease-modifying therapy].

Pediatric acute respiratory distress syndrome in children with type I - spinal muscular atrophy: a 12-year case series.

Bereavement Experiences Among Parents of Children With Spinal Muscular Atrophy Type 1.

Electrodiagnostic and Functional Biomarkers for Non-Ambulatory Children With Late-Onset Spinal Muscular Atrophy.

Open-label phase IV trial evaluating nusinersen after onasemnogene abeparvovec in children with spinal muscular atrophy.

The effect of thoracolumbosacral orthosis on scoliosis progression and chest deformity in children with type 1 spinal muscular atrophy: A randomized controlled trial.

Mental Health, Quality of Life, and Work Functioning of Parents of Children Who Have Died of Spinal Muscular Atrophy.

Innovative treatments of pediatric spinal muscular atrophy: The decision-making process in France.

Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0.

Risdiplam and nusinersen in spinal muscular atrophy: a descriptive real-world study on motor function outcomes in northwestern Iran.

Co-occurrence of ipsilateral partial Horner's syndrome in a patient with monomelic amyotrophy.

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.

Development of the "SMA NNE," a short neonatal neurological examination for newborns with spinal muscular atrophy.

Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial.

Real-world experience with switch to onasemnogene abeparvovec after initial therapy with nusinersen or risdiplam.

Risdiplam in Presymptomatic Spinal Muscular Atrophy.

Clinical Characteristics, Genotypes, and Treatment Outcomes in 133 Patients With Spinal Muscular Atrophy: A Retrospective Cohort.

Single-dose GC101 gene therapy for spinal muscular atrophy types II and III: an open-label single-arm study.

Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy.

The long-term efficacy of nusinersen on respiratory functions in children with symptomatic spinal muscular atrophy type 1.

Hirayama Disease in a Young Male: A Case Report.

Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series.

Treatment Guidelines and Rehabilitation in Spinal Muscular Atrophy and Duchenne's Muscular Dystrophy.

Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen.

Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen.

Cerebrospinal fluid metabolomics reveals predictive biomarkers of nusinersen therapy efficacy in type II and type III spinal muscular atrophy patients.

A Prospective Cohort Study on Quantitative Muscle Magnetic Resonance Imaging During the Treatment of Spinal Muscular Atrophy Types 2 and 3 in Children.

Efficacy and preliminary safety assessment of EXG001-307 AAV gene therapy for spinal muscular atrophy.

Real-world data on the effect of long-term treatment with nusinersen over > 4 years in a cohort of Swiss patients with spinal muscular atrophy.

Impact of Nusinersen Treatment on the Independence and Mental Health of School-Aged Patients With Spinal Muscular Atrophy.

Body Composition in Children With Spinal Muscular Atrophy Types 2 and 3 Receiving Nusinersen Treatment: A Longitudinal Cohort Study.

Quantitative assessment of muscle atrophy and structural changes in children with spinal muscular atrophy using ultrasound imaging.

Growth-friendly Technique or Posterior Spinal Fusion With T-construct Pelvic Fixation in Nonambulatory Spinal Muscular Atrophy With Severe Scoliosis.

A perioperative nursing care protocol for patients with spinal muscular atrophy (SMA) type II or type III undergoing spinal surgery: a 4-year experience in 24 patients.

Families' Perceptions of Powered Mobility for Participation in Children With Spinal Muscular Atrophy Type 1: A Photovoice Study.

Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme.

Cerebrospinal fluid biomarkers of efficacy in patients affected by spinal muscular atrophy type 1 treated with nusinersen.

Aseptic meningoencephalitis during nusinersen therapy in a patient with type III spinal muscular atrophy: a case report.

Upper Extremity Surgery in Hirayama Disease: A Modification of the Current Algorithm.

Anaesthetic management of spinal muscular atrophy in a patient with pneumothorax: a case report.

Fatal outcomes following onasemnogene abeparvovec in advanced-stage spinal muscular atrophy.

Anesthetic management of a patient with spinal muscular atrophy type II for scoliosis surgery: a case report.

Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies.

Feeding development in healthy infants: A comparative framework for children with Spinal Muscular Atrophy - The DySMAnorm study.

Electrodiagnostic studies in the diagnosis of Hirayama disease: a focus on early identification.

A case of spinal muscular atrophy type 0 treated with nusinersen without progression of early-onset scoliosis - possibility of preventing scoliosis with a rehabilitation program focusing on postural management.

Rehabilitation practices for childhood spinal muscular atrophy.

Administration practices of and adherence to nusinersen in children with spinal muscular atrophy: a multicenter disease registry study in China.

Refractive errors, strabismus and ocular findings in children with different types of spinal muscular atrophy.

Brazilian Portuguese version of the revised upper-limb module: cross-cultural adaptation and validation.

Differential respiratory function response in paediatric spinal muscular atrophy types 2 and 3 treated with nusinersen over 3 years.

Long-term CSF responses in adult patients with spinal muscular atrophy type 2 or 3 on treatment with nusinersen.

Families' experiences and perspectives on the early use of powered mobility in children with spinal muscular atrophy type I in the natural context.

Spinal muscular atrophy type 3 and treatment adherence in a changing therapeutic landscape: a national-center experience.

Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies.

Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.

Safety of Onasemnogene Abeparvovec Administration to Type 1 SMA Patients Who Have Received Risdiplam.

The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Abnormalities in Fibroblasts Derived from a Patient Compared to a First-Degree Relative.

Pregnancy and delivery in a woman with spinal muscular atrophy type III.

Cost comparison analysis of onasemnogene abeparvovec and nusinersen for treatment of patients with spinal muscular atrophy type 1 in the Netherlands.

Experiences of families of children with spinal muscular atrophy and the healthcare professionals supporting them during the COVID-19 pandemic: A nationwide study.

Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data.

[Research progress on phenotypic modifier genes in spinal muscular atrophy].

Motor Function and Safety of Nusinersen and Risdiplam in Asian Patients with Types 2-4 Spinal Muscular Atrophy (SMA): A Systematic Review and Meta-Analysis.

Experience of nusinersen treatment in advanced spinal muscular atrophy type 1: Characteristics of late responders with delayed treatment efficacy.

Italian survey on evolving SMA care with disease-modifying therapies: a consensus workshop on nutrition, swallowing, respiratory and rehabilitation care.

The influence of genotype on the natural history of types 1 - 3 spinal muscular atrophy.

Reduced white matter integrity and disrupted brain network in children with type 2 and 3 spinal muscular atrophy.

A 7-year delayed diagnosis in a case of spinal muscular atrophy.

Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study.

Difficulty of administration of nusinersen in complex-column spinal muscular atrophy: New alternative technique by means of cervical intrathecal access through an Ommaya reservoir.

Safety and Efficacy of Nusinersen Focusing on Renal and Hematological Parameters in Spinal Muscular Atrophy.

Alterations in cardiac function correlate with a disruption in fatty acid metabolism in a mouse model of SMA.

Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study.

Identifying novel response markers for spinal muscular atrophy revealed by targeted proteomics following gene therapy.

Motor function and compound muscle action potential amplitude in children with spinal muscular atrophy treated with nusinersen.

Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report.

Transitioning From Nusinersen to Risdiplam for Spinal Muscular Atrophy in Clinical Practice: A Single-Center Experience.

Scoliosis development in 5q-spinal muscular atrophy under disease modifying therapies.

Risdiplam in Adult Patients With 5q Spinal Muscular Atrophy: A Single-Center Longitudinal Study.

A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care.

Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse.

[Natural history of spinal muscular atrophy type I].

Postural Tremor Caused by Hirayama Disease Mimicking Essential Tremor.

Efficacy and safety of Nusinersen among children with spinal muscular atrophy from North India: A prospective cohort study (NICE-SMA study).

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets.

Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol.

Respiratory outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy: national real-world cohort study.

Gene-based therapy for the treatment of spinal muscular atrophy types 1 and 2 : a systematic review and meta-analysis.

High Expression of SMN circ4-2b-3 in SMA I Children Treated with Nusinersen is Associated with Improved Motor Outcomes.

Common complications in spinal muscular atrophy (SMA) type 1 after nusinersen treatment.

[Use of disease-modifying therapies in spinal muscular atrophy 5q in Mexico].

Brain magnetic resonance imaging of patients with spinal muscular atrophy type 2 and 3.

Risdiplam: therapeutic effects and tolerability in a small cohort of 6 adult type 2 and type 3 SMA patients.

Thigh and paraspinal muscles change after fusionless bipolar fixation for early onset scoliosis in type 2 spinal muscular atrophy: Modifications in the spinal and thigh muscles of subjects with SMA2 and early onset scoliosis.

Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies.

Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level.

Five Years of Follow-up after Posterior Cervical Fusion Surgery for Hirayama Disease:A Case Report.

A reassessment of spinal cord pathology in severe infantile spinal muscular atrophy: Reassessment of spinal cord pathology.

Type 1 spinal muscular atrophy treated with nusinersen in Norway, a five-year follow-up.

Treatment preferences in spinal muscular atrophy: A swing weighting study for caregivers of patients with SMA types 1 and 2.

Acceptability, validity and responsiveness of inertial measurement units for assessing motor recovery after gene therapy in infants with early onset spinal muscular atrophy: a prospective cohort study.

Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.

Profiling neuroinflammatory markers and response to nusinersen in paediatric spinal muscular atrophy.

Spinal presentations in children with spinal muscular atrophy type 1 following gene therapy treatment with onasemnogene abeparvovec - The SMA REACH UK network experience.

Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study.

Diagnostic Journey of Korean Patients with Spinal Muscular Atrophy.

Real-World Data in Children with Spinal Muscular Atrophy Type 1 on Long-Term Ventilation Receiving Gene Therapy: A Prospective Cohort Study.

Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module.

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.

Characterization of SMA type II skeletal muscle from treated patients shows OXPHOS deficiency and denervation.

Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy.

Secondary outcomes of scoliosis surgery in disease-modifying treatment-naïve patients with spinal muscular atrophy type 2 and nonambulant type 3.

Fiberoptic endoscopic evaluation of swallowing (FEES) in children with spinal muscular atrophy type 1: feasibility, swallowing safety and efficacy, and dysphagia phenotype.

Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage?

Spinal muscular atrophy in an upper-middle-income nation before the advent of reimbursed disease-modifying therapies.

Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.

Oximetry and carbon dioxide screening for ventilatory requirements in children with spinal muscular atrophy type 1-3.

Ubiquitination Insight from Spinal Muscular Atrophy-From Pathogenesis to Therapy: A Muscle Perspective.

[Effect of disease-modifying drugs for spinal muscular atrophy on the ventilation support of type 1 children].

Nutrition outcomes of disease modifying therapies in spinal muscular atrophy: A systematic review.

Hirayama Disease: Surgical Restoration of Hand Function.

The Impact of Nusinersen and Risdiplam on Motor Function for Spinal Muscular Atrophy Type 2 and 3: A Meta-Analysis.

Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1.

Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency.

Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Real-World Experience from a Single Center.

[Monoclonal antibodies to Respiratory Syncytial Virus (RSV) in patients with Spinal Muscular Atrophy Type 1].

Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening.

Polyminimyoclonus in Hirayama Disease.

[Nusinersen in the treatment of 4 children with presymptomatic spinal muscular atrophy].

Analysis of the efficacy and adverse effects of nusinersen in the treatment of children with spinal muscular atrophy in China.

[Results of neonatal screening for spinal muscular atrophy in Hungary in 2023].

Treatment of SMA type 1 infants using a single-dose AAV9-mediated gene therapy via intrathecal injection of GC101: An open-label, single-arm study.

[Clinical efficacy of nusinersen sodium in the treatment of children with spinal muscular atrophy].

Identification of a Novel ASAH1 Gene Mutation in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy.

Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China.

Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA.

Reproductive genetic carrier screening in pregnancy: improving health outcomes and expanding access.

Neurofilament light chain and profilin-1 dynamics in 30 spinal muscular atrophy type 3 patients treated with nusinersen.

An updated systematic review on spinal muscular atrophy patients treated with nusinersen, onasemnogene abeparvovec (at least 24 months), risdiplam (at least 12 months) or combination therapies.

Impact of Spinal Surgery on Intrathecal Nusinersen Injections in Pediatric Spinal Muscular Atrophy.

Disrupted individual-level morphological brain network in spinal muscular atrophy types 2 and 3.

2024 update: European consensus statement on gene therapy for spinal muscular atrophy.

Exploring functional strength changes during nusinersen treatment in symptomatic children with SMA types 2 and 3.

Hirayama disease in a teenager with severe hand weakness.

Gene replacement therapy for spinal muscular atrophy: safety and preliminary efficacy in a Brazilian cohort.

STAC3 disorder: a common cause of congenital hypotonia in Southern African patients.

Hirayama Disease: The Role of the Neuroradiologist to Confirm the Diagnosis and Correlation with Electromyography.

Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy.

Gingival hyperplasia in a child with spinal muscular atrophy type 1.

Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life.

Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia.

Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy.

Polysomnography findings and respiratory muscle function in infants with early onset spinal muscular atrophy after gene replacement as monotherapy: A prospective study.

Cardiac function evaluation in children with spinal muscular atrophy: A case-control study.

A Post-Marketing Surveillance Study of Nusinersen for Spinal Muscular Atrophy in Routine Medical Practice in China: Interim Results.

Efficacy and safety of onasemnogene abeparvovec for the treatment of patients with spinal muscular atrophy type 1: A systematic review with meta-analysis.

Long-Term Comparative Efficacy and Safety of Risdiplam and Nusinersen in Children with Type 1 Spinal Muscular Atrophy.

Nusinersen Initiation After Onset of Weakness Does Not Prevent Progression of Hip Instability.

[Experience of the treatment of spinal muscular atrophy type 3 Kugelberg-Welander with Nusinersen].

Disease Mechanisms and Therapeutic Approaches in SMARD1-Insights from Animal Models and Cell Models.

Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.

Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women.