Associated Papers
Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran.
Hajati R et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2022
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Thomas Q et al.
Journal of Medical Genetics, 2022
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
Laera L et al.
Human Mutation, 2020
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