Fueki N - Search Results

1

Further delineation of the behavioral and neurologic features in Costello syndrome.

Kawame H, Matsui M, Kurosawa K, Matsuo M, Masuno M, Ohashi H, Fueki N, Aoyama K, Miyatsuka Y, Suzuki K, Akatsuka A, Ochiai Y, Fukushima Y. Kawame H, et al. Among authors: fueki n. Am J Med Genet A. 2003 Apr 1;118A(1):8-14. doi: 10.1002/ajmg.a.10236. Am J Med Genet A. 2003. PMID: 12605434

2

Molecular genetic analysis of 30 families with Joubert syndrome.

Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N. Suzuki T, et al. Among authors: fueki n. Clin Genet. 2016 Dec;90(6):526-535. doi: 10.1111/cge.12836. Epub 2016 Sep 26. Clin Genet. 2016. PMID: 27434533

3

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N. Miyake N, et al. Among authors: fueki n. Am J Hum Genet. 2016 Oct 6;99(4):950-961. doi: 10.1016/j.ajhg.2016.08.005. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666374 Free PMC article.

4

[Prognostic evaluation of psychomotor development in infants by multimodal evoked potentials].

Kojima A, Suzuki K, Fueki N, Haginoya K, Yanagisawa T, Iinuma K. Kojima A, et al. Among authors: fueki n. No To Hattatsu. 1989 Jan;21(1):42-8. No To Hattatsu. 1989. PMID: 2910330 Japanese. No abstract available.

5

Reduced regional cerebral metabolic rate for glucose at the terminal stage in a case of late infantile neuronal ceroid lipofuscinosis.

Fueki N, Iinuma K, Kojima A, Yanai K, Haginoya K, Tada K, Ido T, Ito M. Fueki N, et al. J Child Neurol. 1990 Apr;5(2):98-100. doi: 10.1177/088307389000500205. J Child Neurol. 1990. PMID: 2345285

6

Alteration of regional cerebral metabolic rate for glucose at interictal and ictal stages in a case of epilepsy with electrical status epilepticus during slow sleep.

Fueki N, Iinuma K, Kojima A, Haginoya K, Yanai K, Tada K, Ido T, Matsuzawa T. Fueki N, et al. Jpn J Psychiatry Neurol. 1988 Sep;42(3):611-2. doi: 10.1111/j.1440-1819.1988.tb01379.x. Jpn J Psychiatry Neurol. 1988. PMID: 3266516 No abstract available.

7

Early prognostic factors for acute encephalopathy with reduced subcortical diffusion.

Fukuyama T, Yamauchi S, Amagasa S, Hattori Y, Sasaki T, Nakajima H, Takei Y, Okuno J, Misawa Y, Fueki N, Kitamura M, Matsui H, Inaba Y, Hirabayashi S. Fukuyama T, et al. Among authors: fueki n. Brain Dev. 2018 Sep;40(8):707-713. doi: 10.1016/j.braindev.2018.04.005. Epub 2018 Apr 30. Brain Dev. 2018. PMID: 29716832

8

Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy.

Nakamura A, Fueki N, Shiba N, Motoki H, Miyazaki D, Nishizawa H, Echigoya Y, Yokota T, Aoki Y, Takeda S. Nakamura A, et al. Among authors: fueki n. J Hum Genet. 2016 Jul;61(7):663-7. doi: 10.1038/jhg.2016.28. Epub 2016 Mar 24. J Hum Genet. 2016. PMID: 27009627

9

[A case of acute necrotizing encephalopathy and acute encephalopathy with biphasic seizures and late reduced diffusion].

Yoshitomi S, Okuno J, Hirano S, Fueki N, Hirabayashi S. Yoshitomi S, et al. Among authors: fueki n. No To Hattatsu. 2012 Nov;44(6):487-91. No To Hattatsu. 2012. PMID: 23240532 Japanese.

10

Computed tomography, magnetic resonance imaging, positron emission tomography and evoked potentials at early stage of adrenoleukodystrophy.

Iinuma K, Haginoya K, Handa I, Kojima A, Fueki N, Aikawa J, Ito M, Hatazawa J, Ido T. Iinuma K, et al. Among authors: fueki n. Tohoku J Exp Med. 1989 Nov;159(3):195-203. doi: 10.1620/tjem.159.195. Tohoku J Exp Med. 1989. PMID: 2623662 Free article.

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