Matsumoto N - Search Results

1

SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.

Zaman T, Helbig KL, Clatot J, Thompson CH, Kang SK, Stouffs K, Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R, Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D, Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, Srinivasan S, Charzewska A, Hoffman-Zacharska D, Fitzpatrick D, Harrison V, Vasudevan P, Joss S, Pilz DT, Fawcett KA, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM. Zaman T, et al. Among authors: matsumoto n. Ann Neurol. 2020 Aug;88(2):348-362. doi: 10.1002/ana.25809. Epub 2020 Jul 9. Ann Neurol. 2020. PMID: 32515017 Free PMC article.

2

[Cloning of genes responsible for single gene disorders].

Miyatake S, Matsumoto N. Miyatake S, et al. Among authors: matsumoto n. Nihon Rinsho. 2010 Aug;68 Suppl 8:65-70. Nihon Rinsho. 2010. PMID: 20976886 Review. Japanese. No abstract available.

3

Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.

Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K. Motobayashi M, et al. Among authors: matsumoto n. Am J Med Genet A. 2012 Apr;158A(4):861-8. doi: 10.1002/ajmg.a.35235. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407754 Review.

4

A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Miyatake S, Miyake N, Doi H, Saitsu H, Ogata K, Kawai M, Matsumoto N. Miyatake S, et al. Among authors: matsumoto n. Intern Med. 2012;51(16):2221-6. doi: 10.2169/internalmedicine.51.7374. Epub 2012 Aug 15. Intern Med. 2012. PMID: 22892508 Free article.

5

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: matsumoto n. 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

6

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H. Yoneda Y, et al. Among authors: matsumoto n. Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7. Ann Neurol. 2013. PMID: 23225343

7

A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome.

Miyatake S, Murakami A, Okamoto N, Sakamoto M, Miyake N, Saitsu H, Matsumoto N. Miyatake S, et al. Among authors: matsumoto n. Am J Med Genet A. 2013 May;161A(5):1073-7. doi: 10.1002/ajmg.a.35661. Epub 2013 Mar 5. Am J Med Genet A. 2013. PMID: 23463723

8

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nonoda Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King MC, Matsumoto N, Saitsu H. Kodera H, et al. Among authors: matsumoto n. Epilepsia. 2013 Jul;54(7):1262-9. doi: 10.1111/epi.12203. Epub 2013 May 10. Epilepsia. 2013. PMID: 23662938 Free article.

9

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J, Okuda M, Wada T, Shimakawa S, Imai K, Takeshita S, Ishiwata H, Lev D, Lerman-Sagie T, Cervantes-Barragán DE, Villarroel CE, Ohfu M, Writzl K, Gnidovec Strazisar B, Hirabayashi S, Chitayat D, Myles Reid D, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Matsumoto N, Saitsu H. Nakamura K, et al. Among authors: matsumoto n. Neurology. 2013 Sep 10;81(11):992-8. doi: 10.1212/WNL.0b013e3182a43e57. Epub 2013 Aug 9. Neurology. 2013. PMID: 23935176

10

Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder.

Koshimizu E, Miyatake S, Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Koshimizu E, et al. Among authors: matsumoto n. PLoS One. 2013 Sep 16;8(9):e74167. doi: 10.1371/journal.pone.0074167. eCollection 2013. PLoS One. 2013. PMID: 24066114 Free PMC article.

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