Association of NOTCH2NLC Repeat Expansions With Parkinson Disease

IMPORTANCE: The presence of Notch homolog 2 N-terminal-like C (NOTCH2NLC) repeat expansions are associated with neuronal intranuclear inclusion body disease (NIID), with varied neurological signs, including neuropathy, ataxia, parkinsonism, and tremor. To date, genetic screening of NOTCH2NLC GGC rep...

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Pubblicato in:JAMA Neurol
Autori principali: Ma, Dongrui, Tan, Yi Jayne, Ng, Adeline S. L., Ong, Helen L., Sim, Weiying, Lim, Weng Khong, Teo, Jing Xian, Ng, Ebonne Y. L., Lim, Ee-Chien, Lim, Ee-Wei, Chan, Ling-Ling, Tan, Louis C. S., Yi, Zhao, Tan, Eng-King
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Medical Association 2020
Soggetti:
Brief Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7445625/
https://ncbi.nlm.nih.gov/pubmed/32852534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2020.3023
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