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Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.
Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice A, Hattori N, Tsuji S. Mitsui J, et al. Among authors: yoshino h. Am J Hum Genet. 2010 Jul 9;87(1):75-89. doi: 10.1016/j.ajhg.2010.06.006. Am J Hum Genet. 2010. PMID: 20598272 Free PMC article.
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: yoshino h. Ann Neurol. 2004 Sep;56(3):424-7. doi: 10.1002/ana.20251. Ann Neurol. 2004. PMID: 15349870
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: yoshino h. Ann Neurol. 2006 Feb;59(2):298-309. doi: 10.1002/ana.20753. Ann Neurol. 2006. PMID: 16358335
Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries.
Tomiyama H, Li Y, Funayama M, Hasegawa K, Yoshino H, Kubo S, Sato K, Hattori T, Lu CS, Inzelberg R, Djaldetti R, Melamed E, Amouri R, Gouider-Khouja N, Hentati F, Hatano Y, Wang M, Imamichi Y, Mizoguchi K, Miyajima H, Obata F, Toda T, Farrer MJ, Mizuno Y, Hattori N. Tomiyama H, et al. Among authors: yoshino h. Mov Disord. 2006 Aug;21(8):1102-8. doi: 10.1002/mds.20886. Mov Disord. 2006. PMID: 16622854
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: yoshino h. Arch Neurol. 2008 Jun;65(6):802-8. doi: 10.1001/archneur.65.6.802. Arch Neurol. 2008. PMID: 18541801
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: yoshino h. Mov Disord. 2008 Jul 30;23(10):1461-5. doi: 10.1002/mds.22143. Mov Disord. 2008. PMID: 18546294
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. Among authors: yoshino h. 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
Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study.
Evangelou E, Maraganore DM, Annesi G, Brighina L, Brice A, Elbaz A, Ferrarese C, Hadjigeorgiou GM, Krueger R, Lambert JC, Lesage S, Markopoulou K, Mellick GD, Meeus B, Pedersen NL, Quattrone A, Van Broeckhoven C, Sharma M, Silburn PA, Tan EK, Wirdefeldt K, Ioannidis JP; Genetic Epidemiology of Parkinson's Disease (GEOPD) Consortium. Evangelou E, et al. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):220-8. doi: 10.1002/ajmg.b.30980. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19475631 Free PMC article.
1,092 results