• A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned
• ASAH1 Variants Causing Spinal Muscular Atrophy Phenotype
• Biomarkers in 5q-associated spinal muscular atrophy-a narrative review
• Camptocormia in a young man with anti-GAD-seropositive stiff-person syndrome
• Case Report: A case of spinal muscular atrophy with extensively drug-resistant <em>Acinetobacter baumannii</em> pneumonia treated with nebulization combined with intravenous polymyxin B: experience and a literature review
• Childhood spinal muscular atrophy
• Correlations between clinical motor scores and CMAP in patients with type 2 spinal muscular amyotrophy treated with nusinersen
• CRISPR-dCas13d-based deep screening of proximal and distal splicing-regulatory elements
• Deep screening of proximal and distal splicing-regulatory elements in a native sequence context
• Diagnosis and treatment of 11 patients with cevical spondylotic amyotrophy
• Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth
• Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4
• Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy
• Evaluation of the therapeutic efficacy and tolerability of current drug treatments on the clinical outcomes of paediatric spinal muscular atrophy type 1: A systematic review
• Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs
• Fatigue in Spinal Muscular Atrophy: a fundamental open issue
• Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing
• HIV-associated nemaline myopathy manifesting as bent spine syndrome
• Iliopsoas Muscle Weakness as a Key Diagnostic Marker in HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP)
• Impaired diaphragmatic motility in treatment-naive adult patients with spinal muscular atrophy improved during nusinersen treatment
• Improvement of muscle strength in specific muscular regions in nusinersen-treated adult patients with 5q-spinal muscular atrophy
• Insights into phenotypic variability caused by GARS1 pathogenic variants
• Myopathic changes caused by protein aggregates in adult-onset spinal muscular atrophy
• Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3
• Oral disease-modifying therapy for adult patients with spinal muscular atrophy type 2
• Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy
• Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
• Quantitative sonographic assessment of muscle thickness and fasciculations distribution is a sensitive tool for neuromuscular disorders
• Rare coexistence of spinal muscular atrophy with membranous nephropathy - A clinical conundrum with management dilemma
• Re-survey of 16 Japanese patients with advanced-stage hereditary motor sensory neuropathy with proximal dominant involvement (HMSN-P): Painful muscle cramps for early diagnosis
• Slowly progressive late-onset spinal muscular atrophy Finkel-type related to p.Pro56Ser VABP mutation in Colombia
• Spinal and bulbar muscular atrophy combined with hypertrophic cardiomyopathy and Brugada-pattern electrocardiographic changes: A case report
• Spinal Bulbar Muscular Atrophy -Kennedy's Disease
• Spinal Muscle Atrophy
• Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review
• Spinal Muscular Atrophy Type III Recognized After Delayed Recovery From Neuromuscular Blockade After an Orthognathic Surgery
• Spinal Muscular Atrophy With Severe Hyperlordosis: A Case Report
• Splicing activates transcription from weak promoters upstream of alternative exons
• The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy
• The RESISTANT study (Respiratory Muscle Training in Patients with Spinal Muscular Atrophy): study protocol for a randomized controlled trial
• TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations
• Unveiling the genetic tapestry: Rare disease genomics of spinal muscular atrophy and phenylketonuria proteins
• X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease