Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties
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Human genetics and genomics advances - ISSN 2666-2477-7:1 (2026) p. 1-12
Expanding the genetic and phenotypic spectrum of DYT-VPS16 : the importance of splice-site variants
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Movement disorders: video, videotape supplements - ISSN 0885-3185- (2025) p.
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy
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European journal of human genetics - ISSN 1018-4813- (2025) p.
Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy
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The journal of physiology - ISSN 0022-3751-603:17 (2025) p. 4907-4910
Muscle biopsy findings in valosin-containing protein multisystem proteinopathy
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Neurology : Genetics - ISSN 2376-7839-11:4 (2025) p. 1-13