GCH1 mutations in dopa-responsive dystonia and Parkinson’s disease
Author:
Funder
JSPS KAKENHI Grant
AMED-CREST
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://link.springer.com/article/10.1007/s00415-018-8930-8/fulltext.html
Reference28 articles.
1. Wijemanne S, Jankovic J (2015) Dopa-responsive dystonia—clinical and genetic heterogeneity. Nat Rev Neurol 11:414–424
2. Segawa M, Hosaka A, Miyagawa F et al (1976) Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 14:215–233
3. Ichinose H, Ohye T, Takahashi E et al (1994) Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 8:236–242
4. Mencacci NE, Isaias IU, Reich MM et al (2014) Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers. Brain 137:2480–2492
5. Hagenah J, Saunders-Pullman R, Hedrich K et al (2005) High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology 64:908–911
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