Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
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Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
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Genetics in medicine - ISSN 1098-3600-26:6 (2024) p. 1-14
Spectrinopathies in rare neurological and neuromuscular diseases : large-scale efforts towards the identification of novel molecular causes
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Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias
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Trends in neurosciences - ISSN 1878-108X-47:3 (2024) p. 227-238
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
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Human genetics and genomics advances - ISSN 2666-2477-4:2 (2023) p. 1-19