Developmental Medicine & Child Neurology, 2021 This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA).
Arlene M. D'Silva +4 more
semanticscholar +1 more source
Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy [PDF]
, 2016 Acknowledgments Blood biochemistry analysis and serum analysis were performed by the Easter Bush Pathology Department, University of Edinburgh. Animal husbandry was performed by Centre for Integrative Physiology bio-research restructure technical staff ...
Azzouz, Mimoun +15 more
core +3 more sources
Nusinersen Treatment in Adults With Spinal Muscular Atrophy
Neurology Clinical Practice, 2021 Objective To determine changes in motor and respiratory function after treatment with nusinersen in adults with spinal muscular atrophy (SMA) during the first two years of commercial availability in the USA.
T. Duong +17 more
semanticscholar +1 more source
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]
, 2015 Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania +4 more
core +2 more sources
Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review
Developmental Medicine & Child Neurology, 2021 To summarize the current knowledge on brain involvement in spinal muscular atrophy (SMA) type 1, focusing on brain pathology, cognition, and speech/language development.
R. Masson +3 more
semanticscholar +1 more source
Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes [PDF]
, 2017 Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR).
Blaauw, Bert +18 more
core +3 more sources
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
Genetics in Medicine, 2020 Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging.
PhD Xiao Chen +13 more
semanticscholar +1 more source
Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment
Annals of Clinical and Translational Neurology, 2021 To determine whether serum creatine kinase activity (CK) and serum creatinine concentration (Crn) are prognostic and predictive biomarkers for disease severity, disease progression, and nusinersen treatment effects in adult patients with 5q‐associated ...
M. Freigang +20 more
semanticscholar +1 more source
Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy [PDF]
, 2013 BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (SMN1) gene. Recent breakthroughs in preclinical research have highlighted several potential novel therapies for SMA, increasing ...
Gillingwater, T. H. +4 more
core +3 more sources
Carrier screening for spinal muscular atrophy in 22913 Chinese reproductive age women
Molecular Genetics & Genomic MedicineTo determine the carrier frequency of, and evaluate a carrier screening program for, spinal muscular atrophy (SMA) in reproductive age women in Shenzhen area.
Lijun Zhang +6 more
semanticscholar +1 more source