Associated Papers
DMXL1 promotes recruitment of V1-ATPase to lysosomes upon TRPML1 activation.
Lee C et al.
Nature Structural & Molecular Biology, 2025
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Yahia A et al.
European Journal of Human Genetics : Ejhg, 2024
37012327 (PubMed )
Supplement: 41431_2023_1344_MOESM2_ESM.pdf
Epileptic encephalopathies and progressive neurodegeneration.
Guerrini R et al.
Revue Neurologique, 2024
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Esposito A et al.
Brain : a Journal of Neurology, 2019
Select a paper to view details