Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy
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Journal of neurology - ISSN 0340-5354-272:2 (2025) p. 1-12
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.
Spectrinopathies in rare neurological and neuromuscular diseases : large-scale efforts towards the identification of novel molecular causes
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Antwerpen, Universiteit Antwerpen, Faculteit Geneeskunde en Gezondheidswetenschappen, 2024,105 p.
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
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Journal of the peripheral nervous system - ISSN 1085-9489-29:2 (2024) p. 202-212
Vitamin D₃ deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
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Scientific reports - ISSN 2045-2322-14:1 (2024) p. 1-9