Adachi K - Search Results

1

Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.

Xiong H, Higaki K, Wei CJ, Bao XH, Zhang YH, Fu N, Qin J, Adachi K, Kumura Y, Ninomiya H, Nanba E, Wu XR. Xiong H, et al. Among authors: adachi k. Gene. 2012 May 1;498(2):332-5. doi: 10.1016/j.gene.2012.01.026. Epub 2012 Feb 4. Gene. 2012. PMID: 22326530

2

A Japanese case of fragile-X-associated tremor/ataxia syndrome (FXTAS).

Ishii K, Hosaka A, Adachi K, Nanba E, Tamaoka A. Ishii K, et al. Among authors: adachi k. Intern Med. 2010;49(12):1205-8. doi: 10.2169/internalmedicine.49.3258. Epub 2010 Jun 15. Intern Med. 2010. PMID: 20558944 Free article.

3

Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

Higaki K, Li L, Bahrudin U, Okuzawa S, Takamuram A, Yamamoto K, Adachi K, Paraguison RC, Takai T, Ikehata H, Tominaga L, Hisatome I, Iida M, Ogawa S, Matsuda J, Ninomiya H, Sakakibara Y, Ohno K, Suzuki Y, Nanba E. Higaki K, et al. Among authors: adachi k. Hum Mutat. 2011 Jul;32(7):843-52. doi: 10.1002/humu.21516. Hum Mutat. 2011. PMID: 21520340

4

Impairment of ubiquitin-proteasome system by E334K cMyBPC modifies channel proteins, leading to electrophysiological dysfunction.

Bahrudin U, Morikawa K, Takeuchi A, Kurata Y, Miake J, Mizuta E, Adachi K, Higaki K, Yamamoto Y, Shirayoshi Y, Yoshida A, Kato M, Yamamoto K, Nanba E, Morisaki H, Morisaki T, Matsuoka S, Ninomiya H, Hisatome I. Bahrudin U, et al. Among authors: adachi k. J Mol Biol. 2011 Nov 4;413(4):857-78. doi: 10.1016/j.jmb.2011.09.006. Epub 2011 Sep 12. J Mol Biol. 2011. PMID: 21939669

5

Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene.

Sekijima Y, Nakamura K, Kishida D, Narita A, Adachi K, Ohno K, Nanba E, Ikeda S. Sekijima Y, et al. Among authors: adachi k. Intern Med. 2013;52(1):119-24. doi: 10.2169/internalmedicine.52.8901. Epub 2013 Jan 1. Intern Med. 2013. PMID: 23291686 Free article.

6

Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case.

Chiba Y, Komori H, Takei S, Hasegawa-Ishii S, Kawamura N, Adachi K, Nanba E, Hosokawa M, Enokido Y, Kouchi Z, Yoshida F, Shimada A. Chiba Y, et al. Among authors: adachi k. Neuropathology. 2014 Feb;34(1):49-57. doi: 10.1111/neup.12047. Epub 2013 May 27. Neuropathology. 2014. PMID: 23711246

7

Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.

Fujimoto M, Kawashima Sonoyama Y, Hamajima N, Hamajima T, Kumura Y, Miyahara N, Nishimura R, Adachi K, Nanba E, Hanaki K, Kanzaki S. Fujimoto M, et al. Among authors: adachi k. Clin Endocrinol (Oxf). 2015 Dec;83(6):834-41. doi: 10.1111/cen.12791. Epub 2015 May 11. Clin Endocrinol (Oxf). 2015. PMID: 25866162

8

[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].

Morita M, Nanba E, Adachi K, Ohno K. Morita M, et al. Among authors: adachi k. No To Hattatsu. 2016 May;48(3):205-8. No To Hattatsu. 2016. PMID: 27349084 Japanese.

9

Miglustat therapy in a case of early-infantile Niemann-Pick type C.

Usui M, Miyauchi A, Nakano Y, Nakamura S, Jimbo E, Itamura S, Adachi K, Nanba E, Narita A, Yamagata T, Osaka H. Usui M, et al. Among authors: adachi k. Brain Dev. 2017 Nov;39(10):886-890. doi: 10.1016/j.braindev.2017.05.006. Epub 2017 Jun 3. Brain Dev. 2017. PMID: 28587793

10

A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report.

Hosoba S, Kito K, Teramoto Y, Adachi K, Nakanishi R, Asai A, Iwasa M, Nishimura R, Moritani S, Kawahara M, Minamiguchi H, Nanba E, Kushima R, Andoh A. Hosoba S, et al. Among authors: adachi k. Medicine (Baltimore). 2018 Jul;97(27):e11361. doi: 10.1097/MD.0000000000011361. Medicine (Baltimore). 2018. PMID: 29979419 Free PMC article.

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