Disease: Adult-onset spinal muscular atrophy
- <em>SMN1</em> c.5C>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
- 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
- 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
- Gene therapy offers promise, but timing is crucial for SMA treatment
- 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
- 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
- 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
- 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
- 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