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Showing 1–4 of 4 results

Advanced filters: Author: Tawfiq Froukh Clear advanced filters

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality

Magrinelli et al. link biallelic PSMF1 variants to phenotypes from parkinsonism to perinatal lethality, implicating proteasomal and mitochondrial dysfunction. PI31 loss in fly and mouse models causes age-dependent motor deficits and neurodegeneration.

Francesca Magrinelli
Christelle Tesson
Henry Houlden
ResearchOpen Access15 Apr 2026
Nature Communications

P: 1-31
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Developmental and epileptic encephalopathies are devastating neurological disorders. Here, the authors establish a cohort of patients with variants in the gene DENND5A and use human stem cells to discover a disease mechanism involving altered cell division.

Emily Banks
Vincent Francis
Peter S. McPherson
ResearchOpen Access22 Aug 2024
Nature Communications

Volume: 15, P: 1-22
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

Chiara Giovenino
Slavica Trajkova
Alfredo Brusco
Research06 Mar 2023
European Journal of Human Genetics

Volume: 31, P: 1228-1236
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Fuad Chowdhury
Lei Wang
Tugce B. Balci
Research06 Apr 2021
Genetics in Medicine

Volume: 23, P: 1234-1245

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