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Article

Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias.

Trends in neurosciences - 1 Mar 2024

Van de Vondel Liedewei, De Winter Jonathan, Timmerman Vincent, Baets Jonathan

Abstract excerpt

International consortia collaborating on the genetics of rare diseases have significantly boosted our understanding of inherited neurological disorders. Historical clinical classification boundaries were drawn between disorders with seemingly different etiologies, such as inherited peripheral neuropathies (IPNs), spastic paraplegias, and cerebellar ataxias. These clinically defined borders are being challenged by...

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PMID: 38360512
DOI: 10.1016/j.tins.2024.01.004

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