Numakura C - Search Results

1

Diabetes mellitus exacerbates citrin deficiency via glucose toxicity.

Watanabe Y, Numakura C, Tahara T, Fukui K, Torimura T, Hiromatsu Y, Tomotsune K, Yamakawa M, Hayasaka K. Watanabe Y, et al. Among authors: numakura c. Diabetes Res Clin Pract. 2020 Jun;164:108159. doi: 10.1016/j.diabres.2020.108159. Epub 2020 Apr 23. Diabetes Res Clin Pract. 2020. PMID: 32335094

2

Muscular dystrophy associated with extra-abdominal desmoid tumor showing aberrant chromosome 1 [46,XX,add(1)(p36)].

Katsuura M, Kato M, Sendo D, Akiba K, Honma A, Takahashi Y, Numakura C, Yokoyama S, Nonaka I, Shibata T, Hayasaka K. Katsuura M, et al. Among authors: numakura c. Am J Med Genet. 1998 Feb 26;76(1):42-4. doi: 10.1002/(sici)1096-8628(19980226)76:1<42::aid-ajmg7>3.0.co;2-r. Am J Med Genet. 1998. PMID: 9508063

3

Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease.

Lin C, Numakura C, Ikegami T, Shizuka M, Shoji M, Nicholson G, Hayasaka K. Lin C, et al. Among authors: numakura c. Tohoku J Exp Med. 1999 Jul;188(3):239-44. doi: 10.1620/tjem.188.239. Tohoku J Exp Med. 1999. PMID: 10587015 Free article.

4

Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.

Numakura C, Lin C, Oka N, Akiguchi I, Hayasaka K. Numakura C, et al. Ann Neurol. 2000 Jan;47(1):101-3. Ann Neurol. 2000. PMID: 10632107

5

Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis.

Kato M, Kanai M, Soma O, Takusa Y, Kimura T, Numakura C, Matsuki T, Nakamura S, Hayasaka K. Kato M, et al. Among authors: numakura c. Ann Neurol. 2001 Oct;50(4):547-51. doi: 10.1002/ana.1231. Ann Neurol. 2001. PMID: 11601509

6

Association of the uteroglobin gene polymorphism with IgA nephropathy.

Matsunaga A, Numakura C, Kawakami T, Itoh Y, Kawabata I, Masakane I, Suzuki T, Suzuki M, Goto T, Itoh K, Hayasaka K. Matsunaga A, et al. Among authors: numakura c. Am J Kidney Dis. 2002 Jan;39(1):36-41. doi: 10.1053/ajkd.2002.29875. Am J Kidney Dis. 2002. PMID: 11774099

7

Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.

Kanai M, Numakura C, Sasaki A, Shirahata E, Akaba K, Hashimoto M, Hasegawa H, Shirasawa S, Hayasaka K. Kanai M, et al. Among authors: numakura c. Tohoku J Exp Med. 2002 Apr;196(4):241-6. doi: 10.1620/tjem.196.241. Tohoku J Exp Med. 2002. PMID: 12086152 Free article.

8

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K. Numakura C, et al. Hum Mutat. 2002 Nov;20(5):392-8. doi: 10.1002/humu.10134. Hum Mutat. 2002. PMID: 12402337

9

Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.

Numakura C, Shirahata E, Yamashita S, Kanai M, Kijima K, Matsuki T, Hayasaka K. Numakura C, et al. J Neurol Sci. 2003 Jun 15;210(1-2):61-4. doi: 10.1016/s0022-510x(03)00028-5. J Neurol Sci. 2003. PMID: 12736090

10

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

Kijima K, Numakura C, Shirahata E, Sawaishi Y, Shimohata M, Igarashi S, Tanaka T, Hayasaka K. Kijima K, et al. Among authors: numakura c. J Hum Genet. 2004;49(7):376-379. doi: 10.1007/s10038-004-0162-3. Epub 2004 Jun 12. J Hum Genet. 2004. PMID: 15197604

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