GCH-1 genetic variant may cause Parkinsonism by unmasking the subclinical nigral pathology
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://link.springer.com/content/pdf/10.1007/s00415-020-09788-2.pdf
Reference40 articles.
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3. Wijemanne S, Jankovic J (2015) Dopa-responsive dystonia—clinical and genetic heterogeneity. Nat Rev Neurol 11(7):414–424. https://doi.org/10.1038/nrneurol.2015.86
4. Nygaard TG, Takahashi H, Heiman GA, Snow BJ, Fahn S, Calne DB (1992) Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann Neurol 32(5):603–608. https://doi.org/10.1002/ana.410320502
5. Yoshino H, Nishioka K, Li Y, Oji Y, Oyama G, Hatano T, Machida Y, Shimo Y, Hayashida A, Ikeda A, Mogushi K, Shibagaki Y, Hosaka A, Iwanaga H, Fujitake J, Ohi T, Miyazaki D, Sekijima Y, Oki M, Kusaka H, Fujimoto KI, Ugawa Y, Funayama M, Hattori N (2018) GCH1 mutations in dopa-responsive dystonia and Parkinson's disease. J Neurol 265(8):1860–1870. https://doi.org/10.1007/s00415-018-8930-8
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