Disease: Adult-onset spinal muscular atrophy
- 271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands
- A real-world study of Nusinersen effects in adults with spinal muscular atrophy type 2 and 3
- A sensitive analytical strategy of oligonucleotide functionalized fluorescent probes for detection of nusinersen sodium in human serum
- Administration of adipose-derived stem cells extracellular vesicles in a murine model of spinal muscular atrophy: effects of a new potential therapeutic strategy
- Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy
- Analysis and clinical application of preimplantation genetic testing for monogenic disorders in a case with Spinal muscular atrophy "2+0" genotype
- Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women
- Blocking the dimerization of polyglutamine-expanded androgen receptor protects cells from DHT-induced toxicity by increasing AR turnover
- bootGSEA: a bootstrap and rank aggregation pipeline for multi-study and multi-omics enrichment analyses
- Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy
- Cargo specificity, regulation, and therapeutic potential of cytoplasmic dynein
- Carrier Screening and Diagnosis for Spinal Muscular Atrophy Using Droplet Digital PCR Versus MLPA: Analytical Validation and Early Test Outcome
- Case Report: <em>TRPV4</em> gene mutation causing neuronopathy, distal hereditary motor, type VIII
- Characterization of sensory and motor dysfunction and morphological alterations in late stages of type 2 diabetic mice
- Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population
- Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
- Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes
- Comparison of lumbar muscle morphology in patients with chronic nonspecific low back pain with and without clinical lumbar segmental instability
- Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients
- Correction: Administration of adipose-derived stem cells extracellular vesicles in a murine model of spinal muscular atrophy: effects of a new potential therapeutic strategy
- Cost-Effectiveness of Technologies for the Treatment of Spinal Muscular Atrophy: A Systematic Review of Economic Studies
- Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study
- Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing
- Differentially disrupted spinal cord and muscle energy metabolism in spinal and bulbar muscular atrophy
- Disease Mechanisms and Therapeutic Approaches in SMARD1-Insights from Animal Models and Cell Models
- Disruption of Neuromuscular Junction Following Spinal Cord Injury and Motor Neuron Diseases
- DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing
- Dysregulation of innate immune signaling in animal models of spinal muscular atrophy
- Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience
- Endurance exercise has a negative impact on the onset of SOD1-G93A ALS in female mice and affects the entire skeletal muscle-motor neuron axis
- Erratum: Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
- Experience of the treatment of spinal muscular atrophy type 3 Kugelberg-Welander with Nusinersen
- Exploring variability in cognitive functioning in patients with spinal muscular atrophy: a scoping review
- Fatigue in Spinal Muscular Atrophy: a fundamental open issue
- Feasibility and utility of in-home body weight support harness system use in young children treated for spinal muscular atrophy: A single-arm prospective cohort study
- Genetic therapies and respiratory outcomes in patients with neuromuscular disease
- Global Risdiplam Compassionate Use Program for Patients With Type 1 or 2 Spinal Muscular Atrophy
- Healthcare resource utilisation and direct medical cost for individuals with 5q spinal muscular atrophy in Sweden
- HIV-associated nemaline myopathy manifesting as bent spine syndrome
- Improved therapeutic approach for spinal muscular atrophy via ubiquitination-resistant survival motor neuron variant
- Influence of paraspinal muscle degeneration and postoperative Roussouly classification restoration on mechanical complications in female patients with degenerative scoliosis after surgery
- Long term quality of life follow-up and functional impairment study in patients with Hirayama disease
- Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening
- Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III
- Molecular Mechanisms of Medicinal Plant Securinega Suffruticosa-derived Compound Securinine against Spinal Muscular Atrophy based on Network Pharmacology and Experimental Verification
- Monitoring spinal muscular atrophy with three-dimensional optoacoustic imaging
- Motor and neurocognitive profiles of children with symptomatic spinal muscular atrophy type 1 with two copies of SMN2 before and after treatment: a longitudinal observational study
- Motor unit number estimation via MScanFit MUNE in spinal muscular atrophy
- Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years
- Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3
- Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen
- Neurophysiological Characteristics in Type II and Type III 5q Spinal Muscular Atrophy Patients: Impact of Nusinersen Treatment
- No significant sex differences in incidence or phenotype for the SMNdelta7 mouse model of spinal muscular atrophy
- Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage
- Nusinersen in adults with type 3 spinal muscular atrophy: long-term outcomes on motor and respiratory function
- Nusinersen Initiation After Onset of Weakness Does Not Prevent Progression of Hip Instability
- Nutritional and lipid profile status of children with spinal muscular atrophy in China: A retrospective case-control study
- Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR
- Origin, identity, and function of terminal Schwann cells
- Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy
- Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
- Peripheral nerve stimulation for psoas muscle pain
- Polyglutamine disease proteins: Commonalities and differences in interaction profiles and pathological effects
- Practical Three-Component Regioselective Synthesis of Drug-Like 3-Aryl(or heteroaryl)-5,6-dihydrobenzo[<em>h</em>]cinnolines as Potential Non-Covalent Multi-Targeting Inhibitors To Combat Neurodegenerative Diseases
- Precise editing of pathogenic nucleotide repeat expansions in iPSCs using paired prime editor
- Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
- Profound hypoxemia and hypotension during posterior spinal fusion in a spinal muscular atrophy child with severe scoliosis: a case report
- Promoting diverse perspectives: Addressing health disparities related to Alzheimer's and all dementias
- Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature
- Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy
- Real-World Safety Data of the Orphan Drug Onasemnogene Abeparvovec (Zolgensma<sup>®</sup>) for the SMA Rare Disease: A Pharmacovigilance Study Based on the EMA Adverse Event Reporting System
- Recent research on home rehabilitation and nursing for spinal muscular atrophy
- Reliability and Validity of the Turkish Translation of the PedsQL 3.0 Neuromuscular Module for 2-to 4-Year-Olds in Spinal Muscular Atrophy
- Reliability and Validity of the Turkish Translation of the PedsQLTM 3.0 Neuromuscular Module for 2-to 4- Year-old in Spinal Muscular Atrophy
- Respiratory function in adult patients with spinal muscular atrophy treated with nusinersen - a monocenter observational study
- Respiratory morbidity in patients with spinal muscular atrophy-a changing world in the light of disease-modifying therapies
- Risdiplam for the treatment of spinal muscular atrophy
- Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
- Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China
- Serum myostatin as a candidate disease severity and progression biomarker of spinal muscular atrophy
- Spectrum of sleep-disordered breathing and quality of sleep in adolescent and adult patients with spinal muscular atrophy
- Spinal Muscular Atrophy (SMA) Mortality Despite Novel Medications: Case Reports
- Spinal Muscular Atrophy with early presentation, perspectives for its treatment in Chile
- Spinal Muscular Atrophy With Severe Hyperlordosis: A Case Report
- Spinal Muscular Atrophy: Expanded Access as an Instrument of Fairness
- Stasimon/Tmem41b is required for cell proliferation and adult mouse survival
- Switching from Nusinersen to Risdiplam: A Croatian Real-World Experience on Effectiveness and Safety
- Taking the knife to neurodegeneration: a review of surgical gene therapy delivery to the CNS
- The impact of three SMN2 gene copies on clinical characteristics and effect of disease-modifying treatment in patients with spinal muscular atrophy: a systematic literature review
- The relationship between paraspinal muscle atrophy and degenerative lumbar spondylolisthesis at the L4/5 level
- Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes
- TransNeT-CGP: A cluster-based comorbid gene prioritization by integrating transcriptomics and network-topological features
- Trends from two decades of orphan designations in paediatric rare neuromuscular diseases
- Troponin T is elevated in a relevant proportion of patients with 5q-associated spinal muscular atrophy
- U1 snRNP Biogenesis Defects in Neurodegenerative Diseases
- U1 SNRNP BIOGENESIS DEFFECTS IN NEURODEGENERATIVE DISEASES
- Universal Newborn Screening for Spinal Muscular Atrophy
- Vaccination proposal for patients on onasemnogene abeparvovec therapy
- Variants located in intron 6 of <em>SMN1</em> lead to misdiagnosis in genetic detection and screening for SMA
- Viral Vectors in Gene Replacement Therapy