Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. [PDF]
, 2018 Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field.
A. (2018)., +10 more
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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
Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes
Pediatrics, 2020 In this article, we discuss overall safety and early outcomes in a large cohort of patients with SMA treated with onasemnogene abeparvovec-xioi within Ohio.
M. Waldrop +17 more
semanticscholar +1 more source
SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]
, 2015 Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili +51 more
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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
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A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]
, 2012 Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Arnold, Anne-Sophie +2 more
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Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study
Annals of Clinical and Translational Neurology, 2020 To characterize the natural history of spinal muscular atrophy (SMA) over 24 months using innovative measures such as wearable devices, and to provide evidence for the sensitivity of these measures to determine their suitability as endpoints in clinical ...
M. Annoussamy +21 more
semanticscholar +1 more source
Nusinersen for spinal muscular atrophy [PDF]
Therapeutic Advances in Neurological Disorders, 2018 Claudia D. Wurster, Albert C. Ludolph
doaj +4 more sources
Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy. [PDF]
, 2019 Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by polyglutamine (polyQ) expansion in the androgen receptor (AR). Prior studies have highlighted the importance of AR nuclear localization in SBMA pathogenesis; therefore, in ...
Arnold, Frederick J. +2 more
core +3 more sources