Disease: Amyotrophy- neurogenic scapuloperoneal- New England type
- 2024 update: European consensus statement on gene therapy for spinal muscular atrophy
- A consensus survey of neurologists and clinical geneticists on spinal muscular atrophy treatment in Singapore
- A horizontal and perpendicular interlaminar approach for intrathecal nusinersen injection in patients with spinal muscular atrophy and scoliosis: an observational study
- A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)
- An Insightful Observation Leading to a Late Diagnosis of Spinal Muscular Atrophy: A Case Report
- An interpretable data-driven prediction model to anticipate scoliosis in spinal muscular atrophy in the era of (gene-) therapies
- 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
- Analysis of blood concentrations and clinical application of risdiplam in patients with spinal muscular atrophy using ultra-high performance liquid chromatography-tandem mass spectrometry
- Analytical validation of the amplification refractory mutation system polymerase chain reaction-capillary electrophoresis assay to diagnose spinal muscular atrophy
- Androgen receptor post-translational modifications and their implications for pathology
- Anesthetic management of a patient with spinal and bulbar muscular atrophy (Kennedy's disease) : Case report with brief literature review
- Beyond Motor Neurons in Spinal Muscular Atrophy: A Focus on Neuromuscular Junction
- Camptocormia and Antipsychotic Medications
- Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals
- Case report: Heterozygous variation in the IGHMBP2 gene leading to spinal muscular atrophy with respiratory distress type 1
- Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA
- Chaperoning the chaperones: Proteomic analysis of the SMN complex reveals conserved and etiologic connections to the proteostasis network
- Chronic Pain in Patients with Spinal Muscular Atrophy in Switzerland: A Query to the Spinal Muscular Atrophy Registry
- Clinical and Radiological Outcomes in C2 Recapping Laminoplasty for the Pathologies in the Upper Cervical Spine
- Clinical characteristics, immunological alteration and distinction of MOG-IgG-associated disorders and GFAP-IgG-associated disorders
- Clinical efficacy of nusinersen sodium in the treatment of children with spinal muscular atrophy
- Clinical perspectives: Treating spinal muscular atrophy
- Comparative policy analysis of national rare disease funding policies in Australia, Singapore, South Korea, the United Kingdom and the United States: a scoping review
- Complex neural tube and skeletal malformations, resembling Chiari malformations, in two calves
- Design, Development, and Functional Validation of a 3D-Printed Passive Upper Limb Exoskeleton
- Disproportionality Analysis of Nusinersen in the Food and Drug Administration Adverse Event Reporting System: A Real-World Postmarketing Pharmacovigilance Assessment
- Disrupted individual-level morphological brain network in spinal muscular atrophy types 2 and 3
- Diving deep: zebrafish models in motor neuron degeneration research
- Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy
- Dysfunction of proprioceptive sensory synapses is a pathogenic event and therapeutic target in mice and humans with spinal muscular atrophy
- Effect of E134K pathogenic mutation of SMN protein on SMN-SmD1 interaction, with implication in spinal muscular atrophy: A molecular dynamics study
- Engineered Branaplam Aptamers Exploit Structural Elements from Natural Riboswitches
- Erratum for the Report "Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy" by G. E. Oprea et al
- Evaluation of inpatient and emergency department healthcare resource utilization and costs pre- and post-nusinersen for the treatment of spinal muscular atrophy using United States claims
- Experience with the use of risdiplam in a familial case of spinal muscular atrophy 5q in patients with a homozygous deletion of the SMN1 gene and the same copy number of the SMN2 gene
- Expert consensus over genetic counseling for carrier screening of Spinal muscular atrophy
- Exploring functional strength changes during nusinersen treatment in symptomatic children with SMA types 2 and 3
- Gene replacement therapy for spinal muscular atrophy: safety and preliminary efficacy in a Brazilian cohort
- Gene therapy for CNS disorders: modalities, delivery and translational challenges
- Gingival hyperplasia in a child with spinal muscular atrophy type 1
- Hirayama Disease: The Role of the Neuroradiologist to Confirm the Diagnosis and Correlation with Electromyography
- Identification of a Novel ASAH1 Gene Mutation in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy
- Impact of Spinal Surgery on Intrathecal Nusinersen Injections in Pediatric Spinal Muscular Atrophy
- Improvement in functional motor scores in patients with non-ambulatory spinal muscle atrophy during Nusinersen treatment in South Korea: a single center study
- Improvement of TaC9-ABE mediated correction of human SMN2 gene
- Insights into spinal muscular atrophy from molecular biomarkers
- Limb-girdle muscle weakness and muscle hypertrophy: Do not dismiss spinal muscular atrophy
- Liver health in hemophilia in the era of gene therapy
- Living with spinal muscular atrophy while working in critical care
- Measurement properties of the EQ-5D-Y-3L, PedsQL 4.0, and PROMIS-25 Profile v2.0 in pediatric patients with spinal muscular atrophy
- Mechanism of the Immediate Effect of Balloon Dilation Therapy in Spinal Muscular Atrophy With Dysphagia: A High-Resolution Manometric Study
- Mechanisms of Action of the US Food and Drug Administration-Approved Antisense Oligonucleotide Drugs
- Metabolic syndrome is common in adults with 5q-spinal muscular atrophy and impacts quality of life and fatigue
- miR-196a in the carcinogenesis and other disorders with an especial focus on its biomarker capacity
- Molecular Mechanisms in the Design of Novel Targeted Therapies for Neurodegenerative Diseases
- Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations
- Muscular MRI and magnetic resonance neurography in spinal muscular atrophy
- Mutant androgen receptor induces neurite loss and senescence independently of ARE binding in a neuronal model of SBMA
- Neurofilament light chain and profilin-1 dynamics in 30 spinal muscular atrophy type 3 patients treated with nusinersen
- Neuroprotective macromolecular methylprednisolone prodrug nanomedicine prevents glucocorticoid-induced muscle atrophy and osteoporosis in a rat model of spinal cord injury
- Newborn Screening and Birth Prevalence for Spinal Muscular Atrophy in the US
- Non-Invasive Spinal Cord Stimulation for Motor Rehabilitation of Patients with Spinal Muscular Atrophy Treated with Orphan Drugs
- Novel Gene Therapy Approaches for Targeting Neurodegenerative Disorders: Focusing on Delivering Neurotrophic Genes
- Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China
- Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?
- Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait
- Onasemnogene Abeparvovec Administration via Peripherally Inserted Central Catheter: A Case Report
- Patients' Perceptions of Nusinersen Effects According to Their Responder Status
- Periodic limb movements during sleep in children with neuromuscular disease or cerebral palsy - An important potential contributor to sleep-related morbidity
- Polyglutamine (PolyQ) Diseases: Navigating the Landscape of Neurodegeneration
- Potential of Cell-Penetrating Peptide-Conjugated Antisense Oligonucleotides for the Treatment of SMA
- Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy
- Prenatal AAV9-GFP administration in fetal lambs results in transduction of female germ cells and maternal exposure to virus
- Protein biomarker signature in patients with spinal and bulbar muscular atrophy
- Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophy
- Rare Clinical Image of Kennedy's Syndrome
- Reduced mesencephalic astrocyte-derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology
- Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials
- Reproductive genetic carrier screening in pregnancy: improving health outcomes and expanding access
- Revealing the potential role of hsa-miR-663a in modulating the PI3K-Akt signaling pathway via miRNA microarray in spinal muscular atrophy patient fibroblast-derived iPSCs
- Safety and Efficacy of Apitegromab in Patients With Spinal Muscular Atrophy Types 2 and 3: The Phase 2 TOPAZ Study
- Scoliosis Development in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-Modifying Treatments
- Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?
- Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy
- Spinal cord neurone loss and foot placement changes in a rat knock-in model of amyotrophic lateral sclerosis Type 8
- Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review
- Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations
- Spinal Muscular Atrophy Scoliosis in the Era of Background Therapies-A Review of the Literature
- Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations
- STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
- Study of nusinersen metabolites in the cerebrospinal fluid of children with spinal muscular atrophy using ultra-high-performance liquid chromatography coupled with quadrupole-time-of-flight mass spectrometry
- Survival analysis and life expectancy of pediatric patients with spinal muscular atrophy in Thailand
- The Limb Girdle Muscular Dystrophy Health Index (LGMD-HI)
- The various forms of hereditary motor neuron disorders and their historical descriptions
- Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3
- Treatment Options in Spinal Muscular Atrophy: A Pragmatic Approach for Clinicians
- TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations
- Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes
- Uncertainty In Long-term Relative Effectiveness Of Medicines In Health Technology Assessment: Comparing Assessments Of Medicines For Spinal Muscular Atrophy, Cystic Fibrosis, And Hypercholesterolemia
- What could be the function of the spinal muscular atrophy-causing protein SMN in macrophages?