A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are extremely rare. We report a large family with a late-onset phenotype including motor neuron disease, cognitive decline resemb...

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Библиографические подробности
Главные авторы: Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David G., Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2014
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Original Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4107737/
https://ncbi.nlm.nih.gov/pubmed/24934289
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu138
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