Results 151 to 160 of about 3,775 (171)
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UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review
Modern Rheumatology Case Reports, 2022Melissa Hart +2 more
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Characteristic vacuolization of myeloid precursors and UBA1 mutation in a woman with monosomy X
International Journal of Laboratory Hematology, 2021Isabelle Luquet +4 more
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Understanding the role of UBA1 in the pathogenesis of spinal muscular atrophy
2018Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by widespread loss of lower motor neurons from the spinal cord. Lower motor neuron degeneration leads to a progressive decline in motor development, manifesting as muscle atrophy and weakness.
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UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy
Brain, 2018Hannah K Shorrock +2 more
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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy
F1000Research, 2017Lisa Baumbach-Reardon
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X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene
Neuromuscular Disorders, 2015Maria Jędrzejowska +2 more
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