Ishikawa N - Search Results

1

Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy.

Kobayashi Y, Ishikawa N, Tateishi Y, Izumo H, Eto S, Eguchi Y, Okada S. Kobayashi Y, et al. Among authors: ishikawa n. Brain Dev. 2023 Jan;45(1):2-7. doi: 10.1016/j.braindev.2022.09.008. Epub 2022 Oct 7. Brain Dev. 2023. PMID: 36210235

2

A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia.

Sera Y, Kawaguchi H, Nakamura K, Sato T, Habara M, Okada S, Ishikawa N, Kojima S, Katoh O, Kobayashi M. Sera Y, et al. Among authors: ishikawa n. Haematologica. 2005 Aug;90(8):1032-41. Haematologica. 2005. PMID: 16079102

3

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.

Okada S, Ishikawa N, Shirao K, Kawaguchi H, Tsumura M, Ohno Y, Yasunaga S, Ohtsubo M, Takihara Y, Kobayashi M. Okada S, et al. Among authors: ishikawa n. J Med Genet. 2007 Aug;44(8):485-91. doi: 10.1136/jmg.2007.049635. Epub 2007 May 18. J Med Genet. 2007. PMID: 17513528 Free PMC article.

4

A novel mutation (Gln433Glu) in exon 12 combined with the G insertion in exon 13 causes severe factor XI deficiency in Japanese patients.

Ishikawa N, Okada S, Sato T, Yasunaga S, Ohtsubo M, Takihara Y, Kobayashi M. Ishikawa N, et al. Blood Coagul Fibrinolysis. 2007 Jul;18(5):519-23. doi: 10.1097/MBC.0b013e328133f553. Blood Coagul Fibrinolysis. 2007. PMID: 17581330

5

Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity.

Ohtsubo M, Yasunaga S, Ohno Y, Tsumura M, Okada S, Ishikawa N, Shirao K, Kikuchi A, Nishitani H, Kobayashi M, Takihara Y. Ohtsubo M, et al. Among authors: ishikawa n. Proc Natl Acad Sci U S A. 2008 Jul 29;105(30):10396-401. doi: 10.1073/pnas.0800672105. Epub 2008 Jul 23. Proc Natl Acad Sci U S A. 2008. PMID: 18650381 Free PMC article.

6

A case of frontal lobe epilepsy in which amplitude-integrated EEG combined with conventional EEG was useful for evaluating clusters of seizures.

Ishikawa N, Kobayashi Y, Kobayashi M. Ishikawa N, et al. Epilepsy Behav. 2010 Aug;18(4):485-7. doi: 10.1016/j.yebeh.2010.05.018. Epub 2010 Jun 26. Epilepsy Behav. 2010. PMID: 20580620

7

Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants.

Kobayashi Y, Ishikawa N, Tsumura M, Fujii Y, Okada S, Shigematsu Y, Kobayashi M. Kobayashi Y, et al. Among authors: ishikawa n. Brain Dev. 2013 May;35(5):449-53. doi: 10.1016/j.braindev.2012.06.013. Epub 2012 Jul 31. Brain Dev. 2013. PMID: 22854105

8

Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria.

Fujii Y, Ishikawa N, Kobayashi Y, Kobayashi M, Kato M. Fujii Y, et al. Among authors: ishikawa n. Brain Dev. 2014 Jun;36(6):528-31. doi: 10.1016/j.braindev.2013.07.015. Epub 2013 Aug 24. Brain Dev. 2014. PMID: 23981349

9

A case of trisomy 18 with exacerbation of seizures triggered by administration of valproic acid.

Kobayashi Y, Ishikawa N, Fujii Y, Nakamura K, Kobayashi M. Kobayashi Y, et al. Among authors: ishikawa n. Am J Med Genet A. 2014 Jan;164A(1):285-6. doi: 10.1002/ajmg.a.36205. Epub 2013 Nov 15. Am J Med Genet A. 2014. PMID: 24243702 No abstract available.

10

A pediatric case of peripheral polyneuropathy with IgM anti-GM1 antibody associated with A group a beta-hemolytic Streptococcus infection.

Ishikawa N, Kobayashi Y, Fujii Y, Samukawa M, Kusunoki S, Kobayashi M. Ishikawa N, et al. Pediatr Neurol. 2014 Sep;51(3):441-3. doi: 10.1016/j.pediatrneurol.2014.03.019. Epub 2014 Mar 27. Pediatr Neurol. 2014. PMID: 25160552

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