Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review. Brain Dev,39(9):804-807 2017(Oct.) Author:Morikawa M, Takano K, Motobayashi M, Shiba N, Kosho T, Nakazawa Y, Inaba Y.
Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy. J Hum Genet,62(4):459-463 2017(Apr.) Author:Nakamura A, Shiba N, Miyazaki D, Nishizawa H, Inaba Y, Fueki N, Maruyama R, Echigoya Y, Yokota T.
Usefulness of continuous actigraph monitoring in the assessment of the effect of corticosteroid treatment for Duchenne muscular dystrophy: a case report. J Phys Ther Sci,28(11):3249-3251 2016(Nov.) Author:Nishizawa H, Shiba N, Nakamura A.
Allogeneic transplantation of iPS cell-derived cardiomyocytes regenerates primate hearts. Nature,538(7625):388-391 2016(Oct.) Author:Shiba Y, Gomibuchi T, Seto T, Wada Y, Ichimura H, Tanaka Y, Ogasawara T, Okada K, Shiba N, Sakamoto K, Ido D, Shiina T, Ohkura M, Nakai J, Uno N, Kazuki Y, Oshimura M, Minami I, Ikeda U.
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. J Hum Genet,61(7):663-7 2016(Jul.) Author:Nakamura A, Fueki N, Shiba N, Motoki H, Miyazaki D, Nishizawa H, Echigoya Y, Yokota T, Aoki Y, Takeda S.
Correlation Between White Matter Lesions and Intelligence Quotient in Patients With Congenital Cytomegalovirus Infection. Pediatr Neurol,55:52-7 2016(Feb.) Author:Inaba Y, Motobayashi M, Nishioka M, Kaneko T, Yamauchi S, Kawasaki Y, Shiba N, Nishio SY, Moteki H, Miyagawa M, Takumi Y, Usami S, Koike K.
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature. Am J Med Genet A,170A(2):322-8 2016(Feb.) Author:Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.
Periodic sound-based 6-minute walk test forpatients with Duchenne muscular dystrophy:a preliminary study. J Phys Ther Sci,27(11):3473-9 2015(Nov.) Author:Nishizawa H, Genno H, Shiba N, Nakamura A.
Differential roles of MMP-9 in early and late stages of dystrophic muscles in a mouse model of Duchenne muscular dystrophy. Biochim Biophys Acta,1852(10 Pt A):2170-82 2015(Oct.) Author:Shiba N, Miyazaki D, Yoshizawa T, Fukushima K, Shiba Y, Inaba Y, Imamura M, Takeda S, Koike K, Nakamura A.
PFAPA症候群100例の臨床像 日本小児科学会雑誌 = The journal of the Japan Pediatric Society,119(6):985-990 2015(Jun.) Author:古本 雅宏; 岡田 まゆみ; 柴 直子; 丸山 悠太; 重村 ;倫成; 小林 法元; 小池 健一; 伯耆原 祥; 神田 仁; 本多 貴実子; 梅田 陽; 上松 一永 Keywords:PFAPA; 周期性発熱; アフタ性口内炎; 咽頭炎; 頸部リンパ節炎;
Successful treatment for West syndrome with severe combined immunodeficiency. Brain Dev,37(1):140-4 2015(Jan.) Author:Motobayashi M, Inaba Y, Fukuyama T, Kurata T, Niimi T, Saito S, Shiba N, Nishimura T, Shigemura T, Nakazawa Y, Kobayashi N, Sakashita K, Agematsu K, Ichikawa M, Koike K.
Neuropathology of brain and spinal malformations in a case of monosomy 1p36 Acta Neuropathol Commun,1:45 2013(Aug.) Author:Shiba N, Daza RA, Shaffer LG, Barkovich AJ, Dobyns WB, Hevner RF
Availability of DMD mRNA Transcripts Analysis in a patient with Dystrophinopathy having a Nonsense Mutation J Neurol Transl Neurosci,1:1005 2013(Jul. 24) Author:Narumi Y, Fueki N, Hayashi Y, Shiba N, Nishino I, Inaba Y, Kosho T, Fukushima Y, Nakamura A
Evaluation of Behavior and Cognitive Function in Children with Myoclonic Astatic Epilepsy Pediatrics & Therapeutics,3(159) 2013(Jul. 24) Author:Niimi T, Inaba Y, Motobayashi M, Nishimura T, Shiba N, Fukuyama T, Higuchi T, Koike K
The protomap is propagated to cortical plate neurons through an Eomes-dependent intermediate map PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,110(10):4081-4086 2013 Author:Elsen, Gina E.; Hodge, Rebecca D.; Bedogni, Francesco; Daza, Ray A. M.; Nelson, Branden R.; Shiba, Naoko; Reiner, Steven L.; Hevner, Robert F.;
Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology GENE EXPRESSION PATTERNS,10(1):9-15 2010(Jan.) Author:Bedogni, Francesco; Hodge, Rebecca D.; Nelson, Branden R.; Frederick, Erika A.; Shiba, Naoko; Daza, Ray A.; Hevner, Robert F.;
Ablation of MMP-9 promotes resolution of inflammation and regeneration by modulating chemotaxis in early stage but exacerbates fibrosis in late stage in mdx mice October 2015 Neuromuscular Disorders 25(2):S293 2015(Oct.) Presenter:Shiba, N. Miyazakaki, D. Yoshizawa, Takahiro Fukushima, K. Imamura, Michihiro Takeda, S. Nakamura, Akinori
A newly developed six-minute walking test for Duchenne muscular dystrophy October 2015Neuromuscular Disorders 25(2):S228 2015(Oct.) Presenter:Genno, H. Nishizawa, Hitomi Shiba, N. Nakamura, Akinori