Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques

The recent discovery of mutations in Dardarin (LRRK2) have been related to the appearance of Parkinson's disease in several families. Notably, one single mutation in this gene (R1441G) not only appeared in familial, but also in apparently sporadic Parkinson disease (PD) patients of Basque desce...

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Vydáno v:	Movement disorders Ročník 21; číslo 11; s. 1954 - 1959
Hlavní autoři:	Simón-Sánchez, Javier, Martí-Massó, José-Félix, Sánchez-Mut, José Vicente, Paisán-Ruiz, Coro, Martínez-Gil, Angel, Ruiz-Martínez, Javier, Sáenz, Amets, Singleton, Andrew B., López de Munain, Adolfo, Pérez-Tur, Jordi
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.11.2006 Wiley
Témata:	Aged Arginine - genetics Basque Country Biological and medical sciences Chromosomes, Human, Pair 12 Dardarin Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Demography DNA Mutational Analysis Family Health Female founder effect Glycine - genetics Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 LRRK2 Male Medical sciences Middle Aged Nervous system (semeiology, syndromes) Neurology Parkinson Disease - epidemiology Parkinson Disease - genetics Parkinson's disease Polymorphism, Single Nucleotide Protein-Serine-Threonine Kinases - genetics Spain - epidemiology Spain - ethnology Nervous system diseases Parkinson's disease founder effect Dardarin LRRK2 Central nervous system disease Parkinson disease Degenerative disease Basque Country Mutation Cerebral disorder Extrapyramidal syndrome
ISSN:	0885-3185, 1531-8257
On-line přístup:	Získat plný text
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