Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy

Parkinson’s disease is a neurodegenerative disorder with a multifactorial aetiology. Nevertheless, the genetic predisposition in many families with multi-incidence disease remains unknown. This study aimed to identify novel genes that cause familial Parkinson’s disease. Whole exome sequencing was pe...

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Gepubliceerd in:Brain
Hoofdauteurs: Lin, Chin-Hsien, Tsai, Pei-I, Lin, Han-Yi, Hattori, Nobutaka, Funayama, Manabu, Jeon, Beomseok, Sato, Kota, Abe, Koji, Mukai, Yohei, Takahashi, Yuji, Li, Yuanzhe, Nishioka, Kenya, Yoshino, Hiroyo, Daida, Kensuke, Chen, Meng-Ling, Cheng, Jay, Huang, Cheng-Yen, Tzeng, Shiou-Ru, Wu, Yen-Sheng, Lai, Hsing-Jung, Tsai, Hsin-Hsi, Yen, Ruoh-Fang, Lee, Ni-Chung, Lo, Wen-Chun, Hung, Yu-Chien, Chan, Chih-Chiang, Ke, Yi-Ci, Chao, Chi-Chao, Hsieh, Sung-Tsang, Farrer, Matthew, Wu, Ruey-Meei
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2020
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Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7719032/
https://ncbi.nlm.nih.gov/pubmed/33141179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awaa279
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