Charcot-Marie-Tooth disease and related neuropathies
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Nature reviews disease primers - ISSN 2056-676X-12:1 (2026) p. 1-20
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 0885-3185-41:1 (2026) p. 84-94
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy
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European journal of human genetics - ISSN 1018-4813-34 (2026) p. 45-52
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
Genetic insights in hereditary neurological and neuromuscular disorders : spectrins bridge neurons to muscles
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Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2025,201 p.