Article

Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L family

2025-09-26

Abstract excerpt

Familial forms of ALS are potential candidates for gene-directed therapies, but many recently identified genes remain poorly characterized. Here, we provide a comprehensive clinical, neuropathological, and biochemical description of fALS caused by the heterozygous p.R15L missense mutation in the gene CHCHD10. Using a cross-sectional study design, we evaluate five affected and nine unaffected individuals from a lar...

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Literature Corpus work: a9dacfc5-c562-5c1e-a22e-aacdeed947ed
DOI: 10.1101/2025.09.22.25335938

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