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.
Ageing signatures and disturbed muscle regeneration in muscle proteome of inclusion body myositis
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Journal of cachexia, sarcopenia and muscle - ISSN 2190-5991-16:3 (2025) p. 1-13
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy
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Genetics in medicine - ISSN 1098-3600-27:6 (2025) p. 1-13
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
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medRxiv : the preprint server for health sciences- (2024) p.