• <em>SMN1</em> c.5C&gt;G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts
• A consensus survey of neurologists and clinical geneticists on spinal muscular atrophy treatment in Singapore
• A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned
• A horizontal and perpendicular interlaminar approach for intrathecal nusinersen injection in patients with spinal muscular atrophy and scoliosis: an observational study
• A preliminary study on the effects of long-term robot suit exercise training on gait function and quality of life in patients with spinal and bulbar muscular atrophy
• A rapid and easy-to-use spinal muscular atrophy screening tool based on primers with high specificity and amplification efficiency for SMN1 combined with single-stranded tag hybridization assay
• A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)
• AAV-NRIP gene therapy ameliorates motor neuron degeneration and muscle atrophy in ALS model mice
• Analysis of blood concentrations and clinical application of risdiplam in patients with spinal muscular atrophy using ultra-high performance liquid chromatography-tandem mass spectrometry
• Analysis of the efficacy and adverse effects of nusinersen in the treatment of children with spinal muscular atrophy in China
• 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
• Arginine methylation-enabled FUS phase separation with SMN contributes to neuronal granule formation
• Beyond Motor Neurons in Spinal Muscular Atrophy: A Focus on Neuromuscular Junction
• Brazilian version of the Hammersmith Functional Motor Scale Expanded: cross-cultural adaptation and validation
• Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre
• Camptocormia in a young man with anti-GAD-seropositive stiff-person syndrome
• Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals
• CDC's Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy
• Central neurodegeneration in Kennedy's disease accompanies peripheral motor dysfunction
• 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
• Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1
• Cognition and communication in patients with spinal muscular atrophy: A systematic review
• Communicating the diagnosis of spinal muscular atrophy in endogamous vs. non-endogamous regions
• Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy
• Concerns About Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy
• Concerns About Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy-Reply
• Cost-Effectiveness Analysis of Newborn Screening for Spinal Muscular Atrophy in Italy
• Cytokines in cerebrospinal fluid as a prognostic predictor after treatment of nusinersen in SMA patients
• 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
• Diving deep: zebrafish models in motor neuron degeneration research
• Dysregulation of cerebrospinal fluid metabolism profiles in spinal muscular atrophy patients: a case control study
• Effect of E134K pathogenic mutation of SMN protein on SMN-SmD1 interaction, with implication in spinal muscular atrophy: A molecular dynamics study
• Effect of nusinersen on respiratory and bulbar function in children with spinal muscular atrophy: Real world experience from a single center
• Effects of nusinersen on motor function in children with spinal muscular atrophy: a retrospective study
• Emphasis on the importance of comprehensive clinical and genetic analysis - spinal muscular atrophy combined with phenylketonuria: A case report
• Engineered Branaplam Aptamers Exploit Structural Elements from Natural Riboswitches
• 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
• Floppy Infant with Tongue Fasciculations: Not Always Spinal Muscular Atrophy
• Functional and Structural Changes in Patients with Spinal Muscular Atrophy Treated in Poland during 12-Month Follow-Up: A Prospective Cohort Study
• Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency
• Heterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neurons
• High-resolution global diversity copy number variation maps and association with ctyper
• Identification of a Novel ASAH1 Gene Mutation in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy
• Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study
• Impact of Disease-modifying Therapies on Respiratory Function in People with Neuromuscular Disorders
• Insights into phenotypic variability caused by GARS1 pathogenic variants
• Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening
• Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation
• Judicialization of Zolgensma in the Ministry of Health: costs and clinical profile of patients
• Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study
• Long-term impact of nusinersen on motor and electrophysiological outcomes in adolescent and adult spinal muscular atrophy: insights from a multicenter retrospective study
• Mechanism of the Immediate Effect of Balloon Dilation Therapy in Spinal Muscular Atrophy With Dysphagia: A High-Resolution Manometric Study
• miR-196a in the carcinogenesis and other disorders with an especial focus on its biomarker capacity
• Monoclonal antibodies to Respiratory Syncytial Virus (RSV) in patients with Spinal Muscular Atrophy Type 1
• 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
• 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
• Novel mutation in the IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1: A case report
• Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China
• Nusinersen in the treatment of 4 children with presymptomatic spinal muscular atrophy
• Nutrition outcomes of disease modifying therapies in spinal muscular atrophy: A systematic review
• Onasemnogene abeparvovec gene therapy for spinal muscular atrophy: A cohort study from the United Arab Emirates
• One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia
• Parsonage-Turner Syndrome and SARS-CoV-2 Infection: A Literature Review With Case Presentation
• Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy
• Physiological Features of the Neural Stem Cells Obtained from an Animal Model of Spinal Muscular Atrophy and Their Response to Antioxidant Curcumin
• Polyglutamine (PolyQ) Diseases: Navigating the Landscape of Neurodegeneration
• Polyminimyoclonus in Hirayama Disease
• Prevalence and Classification of Pediatric Neuromuscular Disorders in the Central Region of Portugal
• Protein biomarker signature in patients with spinal and bulbar muscular atrophy
• Rare Variants of the <em>SMN1</em> Gene Detected during Neonatal Screening
• Rehabilitation for spinal muscular atrophy patients in China: a national cross-sectional study
• Results of neonatal screening for spinal muscular atrophy in Hungary in 2023
• Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1
• Role of senataxin in R-loop-mediated neurodegeneration
• Safety analysis of laboratory parameters in paediatric patients with spinal muscular atrophy treated with nusinersen
• Safety of risdiplam in spinal muscular atrophy patients after short-term treatment with nusinersen
• Six-minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen
• Sleep quality and daytime sleepiness amongst family caregivers of children with Spinal Muscular Atrophy
• Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy
• Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review
• Splice-switching antisense oligonucleotides for pediatric neurological disorders
• Strategies to improve safety profile of AAV vectors
• Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy
• The association between cytomegalovirus infection and neurodegenerative diseases: a prospective cohort using UK Biobank data
• The Impact of Comorbidities and Motor Impairment on the Quality of Life of Patients with Spinal Muscular Atrophy: A Case-Control Study
• The Impact of Nusinersen and Risdiplam on Motor Function for Spinal Muscular Atrophy Type 2 and 3: A Meta-Analysis
• The molecular mechanisms that underlie IGHMBP2-related diseases
• Therapeutic strategy for spinal muscular atrophy by combining gene supplementation and genome editing
• Thyroid dysgenesis associated with dwarfism, osteoporosis and spontaneous fractures in a goat
• Transforming care for spinal muscular atrophy: A critical look at treatment paradigms
• Transverse interlaminar ultrasound-guided C1-C2 puncture for the intrathecal administration of nusinersen in patients with spinal muscular atrophy
• U1 snRNA interactions with deep intronic sequences regulate splicing of multiple exons of spinal muscular atrophy genes
• Uncertainty In Long-term Relative Effectiveness Of Medicines In Health Technology Assessment: Comparing Assessments Of Medicines For Spinal Muscular Atrophy, Cystic Fibrosis, And Hypercholesterolemia
• Unveiling the adverse events of Nusinersen in spinal muscular atrophy management based on FAERS database