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GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.
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. Yoshino H, et al. Among authors: ohi t. J Neurol. 2018 Aug;265(8):1860-1870. doi: 10.1007/s00415-018-8930-8. Epub 2018 Jun 14. J Neurol. 2018. PMID: 29948246
Familial Parkinsonism with digenic parkin and PINK1 mutations.
Funayama M, Li Y, Tsoi TH, Lam CW, Ohi T, Yazawa S, Uyama E, Djaldetti R, Melamed E, Yoshino H, Imamichi Y, Takashima H, Nishioka K, Sato K, Tomiyama H, Kubo S, Mizuno Y, Hattori N. Funayama M, et al. Among authors: ohi t. Mov Disord. 2008 Jul 30;23(10):1461-5. doi: 10.1002/mds.22143. Mov Disord. 2008. PMID: 18546294
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy.
Sugimoto S, Shiomi K, Yamamoto A, Nishino I, Nonaka I, Ohi T. Sugimoto S, et al. Among authors: ohi t. Intern Med. 2007;46(11):757-60. doi: 10.2169/internalmedicine.46.6265. Epub 2007 Jun 1. Intern Med. 2007. PMID: 17541230 Free article.
Rapid disease progression correlates with instability of mutant SOD1 in familial ALS.
Sato T, Nakanishi T, Yamamoto Y, Andersen PM, Ogawa Y, Fukada K, Zhou Z, Aoike F, Sugai F, Nagano S, Hirata S, Ogawa M, Nakano R, Ohi T, Kato T, Nakagawa M, Hamasaki T, Shimizu A, Sakoda S. Sato T, et al. Among authors: ohi t. Neurology. 2005 Dec 27;65(12):1954-7. doi: 10.1212/01.wnl.0000188760.53922.05. Epub 2005 Nov 16. Neurology. 2005. PMID: 16291929
187 results