Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus

The ATPase AAA-domain protein 3 (ATAD3) is a ubiquitously expressed mitochondrial protein involved in mitochondrial dynamics, DNA-nucleoid structural organization, cholesterol transport and steroidogenesis. Mutations within the ancestral ATAD3A gene are strongly associated with neurological abnormal...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Appl Clin Genet
Egile Nagusiak: Al Madhoun, Ashraf, Alnaser, Fahad, Melhem, Motasem, Nizam, Rasheeba, Al-Dabbous, Tala, Al-Mulla, Fahd
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Dove 2019
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6556476/
https://ncbi.nlm.nih.gov/pubmed/31239750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S194204
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