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ABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout.
Matsuo H, Tomiyama H, Satake W, Chiba T, Onoue H, Kawamura Y, Nakayama A, Shimizu S, Sakiyama M, Funayama M, Nishioka K, Shimizu T, Kaida K, Kamakura K, Toda T, Hattori N, Shinomiya N. Matsuo H, et al. Among authors: tomiyama h. Ann Clin Transl Neurol. 2015 Mar;2(3):302-6. doi: 10.1002/acn3.167. Epub 2015 Jan 19. Ann Clin Transl Neurol. 2015. PMID: 25815357 Free PMC article.
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.
Nishioka K, Hayashi S, Farrer MJ, Singleton AB, Yoshino H, Imai H, Kitami T, Sato K, Kuroda R, Tomiyama H, Mizoguchi K, Murata M, Toda T, Imoto I, Inazawa J, Mizuno Y, Hattori N. Nishioka K, et al. Among authors: tomiyama h. Ann Neurol. 2006 Feb;59(2):298-309. doi: 10.1002/ana.20753. Ann Neurol. 2006. PMID: 16358335
Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease.
Kumazawa R, Tomiyama H, Li Y, Imamichi Y, Funayama M, Yoshino H, Yokochi F, Fukusako T, Takehisa Y, Kashihara K, Kondo T, Elibol B, Bostantjopoulou S, Toda T, Takahashi H, Yoshii F, Mizuno Y, Hattori N. Kumazawa R, et al. Among authors: tomiyama h. Arch Neurol. 2008 Jun;65(6):802-8. doi: 10.1001/archneur.65.6.802. Arch Neurol. 2008. PMID: 18541801
PLA2G6 variant in Parkinson's disease.
Tomiyama H, Yoshino H, Ogaki K, Li L, Yamashita C, Li Y, Funayama M, Sasaki R, Kokubo Y, Kuzuhara S, Hattori N. Tomiyama H, et al. J Hum Genet. 2011 May;56(5):401-3. doi: 10.1038/jhg.2011.22. Epub 2011 Mar 3. J Hum Genet. 2011. PMID: 21368765
CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.
Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Li Y, Ogaki K, Ando M, Yoshino H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N. Funayama M, et al. Among authors: tomiyama h. Lancet Neurol. 2015 Mar;14(3):274-82. doi: 10.1016/S1474-4422(14)70266-2. Epub 2015 Feb 4. Lancet Neurol. 2015. PMID: 25662902
Novel PINK1 mutations in early-onset parkinsonism.
Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N. Hatano Y, et al. Among authors: tomiyama h. Ann Neurol. 2004 Sep;56(3):424-7. doi: 10.1002/ana.20251. Ann Neurol. 2004. PMID: 15349870
LRRK2 P755L variant in sporadic Parkinson's disease.
Tomiyama H, Mizuta I, Li Y, Funayama M, Yoshino H, Li L, Murata M, Yamamoto M, Kubo SI, Mizuno Y, Toda T, Hattori N. Tomiyama H, et al. J Hum Genet. 2008;53(11-12):1012-1015. doi: 10.1007/s10038-008-0336-5. Epub 2008 Oct 16. J Hum Genet. 2008. PMID: 18923807
495 results