Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction

OBJECTIVE: Our goal was to identify the gene(s) associated with an early-onset form of Parkinson disease (PD) and the molecular defects associated with this mutation. METHODS: We combined whole-exome sequencing and functional genomics to identify the genes associated with early-onset PD. We used flu...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Lee, Richard G., Sedghi, Maryam, Salari, Mehri, Shearwood, Anne-Marie J., Stentenbach, Maike, Kariminejad, Ariana, Goullee, Hayley, Rackham, Oliver, Laing, Nigel G., Tajsharghi, Homa, Filipovska, Aleksandra
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6186023/
https://ncbi.nlm.nih.gov/pubmed/30338296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000276
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