Kuzuhara S - Search Results

1

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

Takahashi T, Aoki M, Suzuki N, Tateyama M, Yaginuma C, Sato H, Hayasaka M, Sugawara H, Ito M, Abe-Kondo E, Shimakura N, Ibi T, Kuru S, Wakayama T, Sobue G, Fujii N, Saito T, Matsumura T, Funakawa I, Mukai E, Kawanami T, Morita M, Yamazaki M, Hasegawa T, Shimizu J, Tsuji S, Kuzuhara S, Tanaka H, Yoshioka M, Konno H, Onodera H, Itoyama Y. Takahashi T, et al. Among authors: kuzuhara s. J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):433-40. doi: 10.1136/jnnp-2011-301339. Epub 2012 Dec 15. J Neurol Neurosurg Psychiatry. 2013. PMID: 23243261 Free PMC article.

2

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

Takahashi T, Aoki M, Tateyama M, Kondo E, Mizuno T, Onodera Y, Takano R, Kawai H, Kamakura K, Mochizuki H, Shizuka-Ikeda M, Nakagawa M, Yoshida Y, Akanuma J, Hoshino K, Saito H, Nishizawa M, Kato S, Saito K, Miyachi T, Yamashita H, Kawai M, Matsumura T, Kuzuhara S, Ibi T, Sahashi K, Nakai H, Kohnosu T, Nonaka I, Arahata K, Brown RH Jr, Saito H, Itoyama Y. Takahashi T, et al. Among authors: kuzuhara s. Neurology. 2003 Jun 10;60(11):1799-804. doi: 10.1212/01.wnl.0000068333.43005.12. Neurology. 2003. PMID: 12796534

3

Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosis.

Atsuta N, Watanabe H, Ito M, Tanaka F, Tamakoshi A, Nakano I, Aoki M, Tsuji S, Yuasa T, Takano H, Hayashi H, Kuzuhara S, Sobue G; Research Committee on the Neurodegenerative Diseases of Japan. Atsuta N, et al. Among authors: kuzuhara s. J Neurol Sci. 2009 Jan 15;276(1-2):163-9. doi: 10.1016/j.jns.2008.09.024. Epub 2008 Oct 28. J Neurol Sci. 2009. PMID: 18962725

4

Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology.

Masuzugawa S, Kuzuhara S, Narita Y, Naito Y, Taniguchi A, Ibi T. Masuzugawa S, et al. Among authors: kuzuhara s. Neurology. 1997 Jan;48(1):253-7. doi: 10.1212/wnl.48.1.253. Neurology. 1997. PMID: 9008527

5

A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.

Sasaki R, Takano H, Kamakura K, Kaida K, Hirata A, Saito M, Tanaka H, Kuzuhara S, Tsuji S. Sasaki R, et al. Among authors: kuzuhara s. Arch Neurol. 1999 Jun;56(6):692-6. doi: 10.1001/archneur.56.6.692. Arch Neurol. 1999. PMID: 10369308

6

Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population.

Naruse H, Takahashi Y, Kihira T, Yoshida S, Kokubo Y, Kuzuhara S, Ishiura H, Amagasa M, Murayama S, Tsuji S, Goto J. Naruse H, et al. Among authors: kuzuhara s. Amyotroph Lateral Scler. 2012 Oct;13(6):562-6. doi: 10.3109/17482968.2012.684213. Epub 2012 Jun 18. Amyotroph Lateral Scler. 2012. PMID: 22708870

7

C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan.

Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, Kokubo Y, Kuzuhara S, Ranum LP, Tamaoki T, Ichikawa Y, Date H, Goto J, Tsuji S. Ishiura H, et al. Among authors: kuzuhara s. Arch Neurol. 2012 Sep;69(9):1154-8. doi: 10.1001/archneurol.2012.1219. Arch Neurol. 2012. PMID: 22637429

8

APOE Alleles With Tau and Aβ Pathology in Patients With Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex in the Kii Peninsula.

Sasaki R, Morimoto S, Ozawa F, Okano H, Yoshida M, Ishiura H, Tsuji S, Kuzuhara S, Kokubo Y. Sasaki R, et al. Among authors: kuzuhara s. Neurology. 2022 Nov 29;99(22):e2437-e2442. doi: 10.1212/WNL.0000000000201156. Epub 2022 Sep 21. Neurology. 2022. PMID: 36130843

9

A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan.

Kikugawa K, Nakano R, Inuzuka T, Kokubo Y, Narita Y, Kuzuhara S, Yoshida S, Tsuji S. Kikugawa K, et al. Among authors: kuzuhara s. Neurogenetics. 1997 Sep;1(2):113-5. doi: 10.1007/s100480050016. Neurogenetics. 1997. PMID: 10732812

10

TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan.

Hara K, Kokubo Y, Ishiura H, Fukuda Y, Miyashita A, Kuwano R, Sasaki R, Goto J, Nishizawa M, Kuzuhara S, Tsuji S. Hara K, et al. Among authors: kuzuhara s. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):310-3. doi: 10.1002/ajmg.b.30966. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19405049

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