Ohba C - Search Results

1

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H. Ohba C, et al. Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub 2014 Jun 2. Epilepsia. 2014. PMID: 24888894 Free article.

2

Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity.

Miyatake S, Touho H, Miyake N, Ohba C, Doi H, Saitsu H, Taguri M, Morita S, Matsumoto N. Miyatake S, et al. Among authors: ohba c. J Hum Genet. 2012 Dec;57(12):804-6. doi: 10.1038/jhg.2012.105. Epub 2012 Aug 30. J Hum Genet. 2012. PMID: 22931863

3

A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.

Higashiyama Y, Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Joki H, Koyano S, Suzuki Y, Tanaka F, Kuroiwa Y, Matsumoto N. Higashiyama Y, et al. Among authors: ohba c. Mov Disord. 2013 Apr;28(4):552-3. doi: 10.1002/mds.25296. Epub 2013 Jan 16. Mov Disord. 2013. PMID: 23325613 No abstract available.

4

Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.

Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N. Doi H, et al. Among authors: ohba c. Intern Med. 2013;52(14):1629-33. doi: 10.2169/internalmedicine.52.0252. Epub 2013 Jul 15. Intern Med. 2013. PMID: 23857099 Free article.

5

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Ohba C, Osaka H, Iai M, Yamashita S, Suzuki Y, Aida N, Shimozawa N, Takamura A, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Eto Y, Tanaka F, Matsumoto N, Saitsu H. Ohba C, et al. Neurogenetics. 2013 Nov;14(3-4):225-32. doi: 10.1007/s10048-013-0375-8. Epub 2013 Oct 4. Neurogenetics. 2013. PMID: 24091540

6

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.

Ohba C, Okamoto N, Murakami Y, Suzuki Y, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, Matsumoto N, Saitsu H. Ohba C, et al. Neurogenetics. 2014 May;15(2):85-92. doi: 10.1007/s10048-013-0384-7. Epub 2013 Nov 20. Neurogenetics. 2014. PMID: 24253414

7

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

Ohba C, Nabatame S, Iijima Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Ozono K, Saitsu H, Matsumoto N. Ohba C, et al. J Hum Genet. 2014 May;59(5):292-5. doi: 10.1038/jhg.2014.18. Epub 2014 Mar 13. J Hum Genet. 2014. PMID: 24621584

8

Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation.

Kubota K, Saito Y, Ohba C, Saitsu H, Fukuyama T, Ishiyama A, Saito T, Komaki H, Nakagawa E, Sugai K, Sasaki M, Matsumoto N. Kubota K, et al. Among authors: ohba c. Brain Dev. 2015 Jan;37(1):158-62. doi: 10.1016/j.braindev.2014.03.001. Epub 2014 Mar 28. Brain Dev. 2015. PMID: 24685771

9

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N. Kato M, et al. Among authors: ohba c. Neurology. 2014 May 6;82(18):1587-96. doi: 10.1212/WNL.0000000000000389. Epub 2014 Apr 4. Neurology. 2014. PMID: 24706016

10

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.

Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Nukui M, Araki A, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Miyatake S, et al. Among authors: ohba c. J Hum Genet. 2015 Apr;60(4):175-82. doi: 10.1038/jhg.2014.124. Epub 2015 Jan 22. J Hum Genet. 2015. PMID: 25608832

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