Arai-Ichinoi N - Search Results

1

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.

Arai-Ichinoi N, Uematsu M, Sato R, Suzuki T, Kudo H, Kikuchi A, Hino-Fukuyo N, Matsumoto M, Igarashi K, Haginoya K, Kure S. Arai-Ichinoi N, et al. Hum Genet. 2016 Jan;135(1):89-98. doi: 10.1007/s00439-015-1617-7. Epub 2015 Nov 23. Hum Genet. 2016. PMID: 26597493

2

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.

Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S. Kikuchi A, et al. Mol Genet Metab. 2012 Apr;105(4):553-8. doi: 10.1016/j.ymgme.2011.12.024. Epub 2012 Jan 8. Mol Genet Metab. 2012. PMID: 22277121

3

Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: a susceptibility gene for moyamoya disease.

Sonobe S, Fujimura M, Niizuma K, Nishijima Y, Ito A, Shimizu H, Kikuchi A, Arai-Ichinoi N, Kure S, Tominaga T. Sonobe S, et al. Brain Res. 2014 Mar 13;1552:64-71. doi: 10.1016/j.brainres.2014.01.011. Epub 2014 Jan 17. Brain Res. 2014. PMID: 24440776

4

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Sato Y, Nakayama T, Kakisaka Y, Kubota Y, Kobayashi T, Funayama R, Nakayama K, Uematsu M, Aoki Y, Haginoya K, Kure S. Hino-Fukuyo N, et al. Hum Genet. 2015 Jun;134(6):649-58. doi: 10.1007/s00439-015-1553-6. Epub 2015 Apr 16. Hum Genet. 2015. PMID: 25877686 Clinical Trial.

5

Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.

Sakamoto O, Arai-Ichinoi N, Mitsubuchi H, Chinen Y, Haruna H, Maruyama H, Sugawara H, Kure S. Sakamoto O, et al. Tohoku J Exp Med. 2015 Jun;236(2):103-6. doi: 10.1620/tjem.236.103. Tohoku J Exp Med. 2015. PMID: 26018748 Free article.

6

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.

Togawa T, Sugiura T, Ito K, Endo T, Aoyama K, Ohashi K, Negishi Y, Kudo T, Ito R, Kikuchi A, Arai-Ichinoi N, Kure S, Saitoh S. Togawa T, et al. J Pediatr. 2016 Apr;171:171-7.e1-4. doi: 10.1016/j.jpeds.2016.01.006. Epub 2016 Feb 5. J Pediatr. 2016. PMID: 26858187

7

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings.

Shiihara T, Watanabe M, Moriyama K, Maruyama Y, Kikuchi A, Arai-Ichinoi N, Uematsu M, Sameshima K. Shiihara T, et al. Brain Dev. 2016 Sep;38(8):763-7. doi: 10.1016/j.braindev.2016.02.009. Epub 2016 Feb 28. Brain Dev. 2016. PMID: 26926398

8

Patchy white matter hyperintensity in ring chromosome 18 syndrome.

Anzai M, Arai-Ichinoi N, Takezawa Y, Endo W, Inui T, Sato R, Kikuchi A, Uematsu M, Kure S, Haginoya K. Anzai M, et al. Pediatr Int. 2016 Sep;58(9):919-22. doi: 10.1111/ped.13043. Epub 2016 Aug 31. Pediatr Int. 2016. PMID: 27577543

9

Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation.

Hino-Fukuyo N, Kikuchi A, Iwasaki M, Sato Y, Kubota Y, Kobayashi T, Nakayama T, Haginoya K, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Funayama R, Nakayama K, Aoki Y, Kure S. Hino-Fukuyo N, et al. Brain Dev. 2017 Apr;39(4):337-340. doi: 10.1016/j.braindev.2016.11.006. Brain Dev. 2017. PMID: 27916450

10

Reversible brain atrophy in glutaric aciduria type 1.

Numata-Uematsu Y, Sakamoto O, Kakisaka Y, Okubo Y, Oikawa Y, Arai-Ichinoi N, Kure S, Uematsu M. Numata-Uematsu Y, et al. Brain Dev. 2017 Jun;39(6):532-535. doi: 10.1016/j.braindev.2017.01.003. Epub 2017 Jan 29. Brain Dev. 2017. PMID: 28143689

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