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A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample.
Buervenich S, Carmine A, Galter D, Shahabi HN, Johnels B, Holmberg B, Ahlberg J, Nissbrandt H, Eerola J, Hellström O, Tienari PJ, Matsuura T, Ashizawa T, Wüllner U, Klockgether T, Zimprich A, Gasser T, Hanson M, Waseem S, Singleton A, McMahon FJ, Anvret M, Sydow O, Olson L. Buervenich S, et al. Among authors: matsuura t. Arch Neurol. 2005 Jan;62(1):74-8. doi: 10.1001/archneur.62.1.74. Arch Neurol. 2005. PMID: 15642852
Spinocerebellar ataxia type 10 in the French population.
Fujigasaki H, Tardieu S, Camuzat A, Stevanin G, LeGuern E, Matsuura T, Ashizawa T, Dürr A, Brice A. Fujigasaki H, et al. Among authors: matsuura t. Ann Neurol. 2002 Mar;51(3):408-9. doi: 10.1002/ana.10126. Ann Neurol. 2002. PMID: 11891842 No abstract available.
Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17.
Gao R, Matsuura T, Coolbaugh M, Zühlke C, Nakamura K, Rasmussen A, Siciliano MJ, Ashizawa T, Lin X. Gao R, et al. Among authors: matsuura t. Eur J Hum Genet. 2008 Feb;16(2):215-22. doi: 10.1038/sj.ejhg.5201954. Epub 2007 Nov 28. Eur J Hum Genet. 2008. PMID: 18043721
Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3.
Gao R, Liu Y, Silva-Fernandes A, Fang X, Paulucci-Holthauzen A, Chatterjee A, Zhang HL, Matsuura T, Choudhary S, Ashizawa T, Koeppen AH, Maciel P, Hazra TK, Sarkar PS. Gao R, et al. Among authors: matsuura t. PLoS Genet. 2015 Jan 15;11(1):e1004834. doi: 10.1371/journal.pgen.1004834. eCollection 2015 Jan. PLoS Genet. 2015. PMID: 25590633 Free PMC article.
2,002 results