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12,478 results

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Page 1
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Ishiura H, et al. Among authors: takahashi y. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332380
Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis.
Takahashi Y, Seki N, Ishiura H, Mitsui J, Matsukawa T, Kishino A, Onodera O, Aoki M, Shimozawa N, Murayama S, Itoyama Y, Suzuki Y, Sobue G, Nishizawa M, Goto J, Tsuji S. Takahashi Y, et al. Arch Neurol. 2008 Oct;65(10):1326-32. doi: 10.1001/archneur.65.10.1326. Arch Neurol. 2008. PMID: 18852346
Mutations for Gaucher disease confer high susceptibility to Parkinson disease.
Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, Fukuda Y, Date H, Iwata A, Yamamoto M, Hattori N, Murata M, Toda T, Tsuji S. Mitsui J, et al. Among authors: takahashi y. Arch Neurol. 2009 May;66(5):571-6. doi: 10.1001/archneurol.2009.72. Arch Neurol. 2009. PMID: 19433656
SNP haplotype mapping in a small ALS family.
Krueger KA, Tsuji S, Fukuda Y, Takahashi Y, Goto J, Mitsui J, Ishiura H, Dalton JC, Miller MB, Day JW, Ranum LP. Krueger KA, et al. Among authors: takahashi y. PLoS One. 2009 May 25;4(5):e5687. doi: 10.1371/journal.pone.0005687. PLoS One. 2009. PMID: 19479031 Free PMC article.
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H. Sato N, et al. Among authors: takahashi m, takahashi y. Am J Hum Genet. 2009 Nov;85(5):544-57. doi: 10.1016/j.ajhg.2009.09.019. Epub 2009 Oct 29. Am J Hum Genet. 2009. PMID: 19878914 Free PMC article.
Efferent and afferent evoked potentials in patients with adrenomyeloneuropathy.
Matsumoto H, Hanajima R, Terao Y, Hamada M, Yugeta A, Shirota Y, Yuasa K, Sato F, Matsukawa T, Takahashi Y, Goto J, Tsuji S, Ugawa Y. Matsumoto H, et al. Among authors: takahashi y. Clin Neurol Neurosurg. 2010 Feb;112(2):131-6. doi: 10.1016/j.clineuro.2009.11.005. Epub 2009 Dec 5. Clin Neurol Neurosurg. 2010. PMID: 19963315
TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan.
Tamaoka A, Arai M, Itokawa M, Arai T, Hasegawa M, Tsuchiya K, Takuma H, Tsuji H, Ishii A, Watanabe M, Takahashi Y, Goto J, Tsuji S, Akiyama H. Tamaoka A, et al. Among authors: takahashi y. Intern Med. 2010;49(4):331-4. doi: 10.2169/internalmedicine.49.2915. Epub 2010 Feb 15. Intern Med. 2010. PMID: 20154440 Free article.
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