Pipeline to gene discovery - Analysing familial Parkinsonism in the Queensland Parkinson's Project
نویسندگان
چکیده
منابع مشابه
The Familial Parkinsonism Gene LRRK2 Regulates Neurite Process Morphology
Mutations in LRRK2 underlie an autosomal-dominant, inherited form of Parkinson's disease (PD) that mimics the clinical features of the common "sporadic" form of PD. The LRRK2 protein includes putative GTPase, protein kinase, WD40 repeat, and leucine-rich repeat (LRR) domains of unknown function. Here we show that PD-associated LRRK2 mutations display disinhibited kinase activity and induce a pr...
متن کاملFamilial Parkinson's Disease/Parkinsonism
1Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan 2Sorbonne Universités, UPMC Université Paris 6 UMRS 1127, Inserm U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France 3Department of Neurology, Singapore General Hospital and Neuroscience & Behavioral Disorders Program, Duke-NUS Graduate Medical School, National Neuroscience Instit...
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Genetic testing is important for diagnosis and prediction of many diseases. The development of a clinical genetic test can be rapid for common disorders, but for rare genetic disorders this process can take years, if it occurs at all. We review the path from gene discovery to development of a clinical genetic test, using frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17...
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ژورنال
عنوان ژورنال: Parkinsonism & Related Disorders
سال: 2018
ISSN: 1353-8020
DOI: 10.1016/j.parkreldis.2017.12.033