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Author

F. Distelmaier

2 papers indexed here

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Open access Oct 2026

Biallelic variants in PIKFYVE cause a hypomyelinating leukodystrophy with endolysosomal dysfunction.

The PIKfyve-FIG4-VAC14 lipid kinase complex generates phosphoinositide PI(3,5)P2. Pathogenic variants in VAC14 and FIG4 cause neurodevelopmental disorders and PIKFYVE has been linked to autosomal dominant fleck corneal dystrophy. We searched for the underlyging, genetic cause of a neurodevelopmental disorder in five af...

L. Averdunk, Martin Groß, Anne Hamacher et al. · 0 citations
Review Open access Sep 2026

Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry–a multinational, longitudinal cohort study

Summary Background Diabetes mellitus is a common but incompletely characterised manifestation of mitochondrial diseases (MD). Data on risk factors, clinical course, and treatment recommendations are lacking. Methods In this multinational cohort study, we analysed longitudinal data of patients with a genetically confirm...

Luisa Semmler, B. Büchner, C. Kornblum et al. · 0 citations

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