Nanba E - Search Results

1

Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis.

Okazaki T, Saito Y, Ueda R, Awashima T, Nishimura Y, Yuasa I, Shinohara Y, Adachi K, Sasaki M, Nanba E, Maegaki Y. Okazaki T, et al. Among authors: nanba e. Brain Dev. 2017 Jan;39(1):67-71. doi: 10.1016/j.braindev.2016.07.004. Epub 2016 Jul 30. Brain Dev. 2017. PMID: 27485793

2

Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis.

Kurata H, Shirai K, Saito Y, Okazaki T, Ohno K, Oguri M, Adachi K, Nanba E, Maegaki Y. Kurata H, et al. Among authors: nanba e. Brain Dev. 2018 Jan;40(1):36-41. doi: 10.1016/j.braindev.2017.07.005. Epub 2017 Jul 31. Brain Dev. 2018. PMID: 28774669

3

Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome?

Saito Y, Toyoshima M, Oka A, Zhuo L, Moriwaki S, Yamamoto O, Kanzaki S, Hanaki K, Ninomiya H, Nanba E, Kondo A, Maegaki Y, Ohno K. Saito Y, et al. Among authors: nanba e. Brain Dev. 2008 Mar;30(3):221-5. doi: 10.1016/j.braindev.2007.08.004. Epub 2007 Sep 17. Brain Dev. 2008. PMID: 17870267

4

Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1.

Okazaki T, Saito Y, Hiraiwa R, Saitoh S, Kai M, Adachi K, Nishimura Y, Nanba E, Maegaki Y. Okazaki T, et al. Among authors: nanba e. Epileptic Disord. 2017 Sep 1;19(3):339-344. doi: 10.1684/epd.2017.0922. Epileptic Disord. 2017. PMID: 28721930

5

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.

Okazaki T, Saito Y, Hayashida T, Akaboshi S, Miyake N, Matsumoto N, Kasagi N, Adachi K, Shinohara Y, Nanba E, Maegaki Y. Okazaki T, et al. Among authors: nanba e. Clin Genet. 2018 Oct;94(3-4):391-392. doi: 10.1111/cge.13378. Epub 2018 Jun 10. Clin Genet. 2018. PMID: 29888467

6

Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing.

Okazaki T, Murata M, Kai M, Adachi K, Nakagawa N, Kasagi N, Matsumura W, Maegaki Y, Nanba E. Okazaki T, et al. Among authors: nanba e. Yonago Acta Med. 2016 Jun 29;59(2):118-25. eCollection 2016 Jun. Yonago Acta Med. 2016. PMID: 27493482 Free PMC article.

7

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: nanba e. 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

8

Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants.

Okazaki T, Matsuura K, Kasagi N, Adachi K, Kai M, Okubo M, Nishino I, Nanba E, Maegaki Y. Okazaki T, et al. Among authors: nanba e. Hum Genome Var. 2020 Apr 20;7:12. doi: 10.1038/s41439-020-0099-x. eCollection 2020. Hum Genome Var. 2020. PMID: 32351701 Free PMC article.

9

[No title available]

[No authors listed] [No authors listed] PMID: 33419982

10

A case of infantile Tay-Sachs disease with late onset spasms.

Yamamoto N, Kuki I, Nagase S, Inoue T, Nukui M, Okazaki S, Furuichi Y, Adachi K, Nanba E, Sakai N, Kawawaki H. Yamamoto N, et al. Among authors: nanba e. Brain Dev. 2021 May;43(5):661-665. doi: 10.1016/j.braindev.2020.12.016. Epub 2021 Jan 20. Brain Dev. 2021. PMID: 33483101

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