Takashi Shiihara

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan; Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Japan.

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August 2015

A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.

Authors:

Takashi Shiihara Mio Watanabe Kengo Moriyama Mitsugu Uematsu Kiyoko Sameshima

Brain Dev 2015 Apr 16;37(4):455-8. Epub 2014 Jul 16.

Division of Medical Genetics, Gunma Children's Medical Center, Gunma 377-8577, Japan.

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April 2015

Another case of respiratory syncytial virus-related limbic encephalitis.

Authors:

Kengo Moriyama Yukitoshi Takahashi Takashi Shiihara

Neuroradiology 2014 May 21;56(5):435-6. Epub 2014 Mar 21.

Department of Neurology, Gunma Children's Medical Center, 779 Shimohakoda, Hokkitsu-machi, Shibukawa, Gunma, 377-8577, Japan,

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May 2014

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Am J Hum Genet 2013 Sep 29;93(3):496-505. Epub 2013 Aug 29.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Japan.

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September 2013

Serum and CSF biomarkers in acute pediatric neurological disorders.

Authors:

Takashi Shiihara Taeko Miyake Sakiko Izumi Susumu Sugihara Mio Watanabe Jun-ichi Takanashi Masaya Kubota Mitsuhiro Kato

Brain Dev 2014 Jun 11;36(6):489-95. Epub 2013 Jul 11.

Department of Pediatrics, Yamagata University Faculty of Medicine, 2-2-2 Iida-Nishi, Yamagata-shi, Yamagata 990-9585, Japan.

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June 2014

ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus.

Authors:

Mayu Shinohara Makiko Saitoh Daisuke Nishizawa Kazutaka Ikeda Shinichi Hirose Jun-ichi Takanashi Junko Takita Kenjiro Kikuchi Masaya Kubota Gaku Yamanaka Takashi Shiihara Akira Kumakura Masahiro Kikuchi Mitsuo Toyoshima Tomohide Goto Hideo Yamanouchi Masashi Mizuguchi

Neurology 2013 Apr 27;80(17):1571-6. Epub 2013 Mar 27.

Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Japan.

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April 2013

Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy.

Authors:

Kazuyuki Nakamura Mitsuhiro Kato Ayako Sasaki Takashi Shiihara Kiyoshi Hayasaka

Pediatr Int 2012 Oct;54(5):709-11

Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.

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October 2012

Serum and cerebrospinal fluid S100B, neuron-specific enolase, and total tau protein in acute encephalopathy with biphasic seizures and late reduced diffusion: a diagnostic validity.

Authors:

Takashi Shiihara Taeko Miyake Sakiko Izumi Mio Watanabe Keiko Kamayachi Kazuhiko Kodama Makoto Nabetani Masako Ikemiyagi Yoshio Yamaguchi Noriko Sawaura

Pediatr Int 2012 Feb 30;54(1):52-5. Epub 2011 Oct 30.

Department of Neurology, Gunma Children's Medical Center, Shibukawa, Gunma 377-8577, Japan.

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February 2012

A case of anti-GA1 antibody-positive Fisher syndrome with elevated tau protein in cerebrospinal fluid.

Authors:

Yoshinobu Oyazato Takashi Shiihara Susumu Kusunoki Masao Adachi Noriko Ohnishi Hiroaki Taniguchi Atsushi Nishiyama Aika Watanabe Mitsuro Kobayashi Ichiro Kamioka

Brain Dev 2012 Apr 13;34(4):329-32. Epub 2011 Jul 13.

Department of Pediatrics, Kakogawa West City Hospital, Hyogo, Japan.

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April 2012

Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome.

Authors:

Yoko Narumi Takashi Shiihara Hiroshi Yoshihashi Satoru Sakazume Marjo S van der Knaap Akira Nishimura-Tadaki Naomichi Matsumoto Yoshimitsu Fukushima

Clin Dysmorphol 2011 Jul;20(3):166-7

Division of Medical Genetics, Gunma Children's Medical Center, Shibukawa, Japan.

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July 2011

Serial MRI changes in a patient with infantile Alexander disease and prolonged survival.

Authors:

Takashi Shiihara Toru Yoneda Ikuko Mizuta Tomokatsu Yoshida Masanori Nakagawa Nobuzo Shimizu

Brain Dev 2011 Aug 30;33(7):604-7. Epub 2010 Oct 30.

Department of Neurology, Gunma Children's Medical Center, Gunma, Japan.

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August 2011

Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases.

Authors:

Mayu Shinohara Makiko Saitoh Jun-ichi Takanashi Hideo Yamanouchi Masaya Kubota Tomohide Goto Masahiro Kikuchi Takashi Shiihara Gaku Yamanaka Masashi Mizuguchi

Brain Dev 2011 Jun 12;33(6):512-7. Epub 2010 Oct 12.

Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Japan.

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June 2011

Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy.

Authors:

Shinpei Abe Akihisa Okumura Shin-ichiro Hamano Manabu Tanaka Takashi Shiihara Koichi Aizaki Tomohiko Tsuru Yasuhisa Toribe Hiroshi Arai Toshiaki Shimizu

Brain Dev 2011 Jan 7;33(1):28-34. Epub 2010 Jul 7.

Department of Pediatrics, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan.

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January 2011

Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.

Authors:

Satoshi Narumi Chikahiko Numakura Takashi Shiihara Chizuru Seiwa Yasuyuki Nozaki Takanori Yamagata Mariko Y Momoi Yoriko Watanabe Makoto Yoshino Toyojiro Matsuishi Eriko Nishi Hiroshi Kawame Tsutomu Akahane Gen Nishimura Mitsuru Emi Tomonobu Hasegawa

Am J Med Genet A 2010 Jan;152A(1):133-40

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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January 2010

Peripheral lymphocyte subset and serum cytokine profiles of patients with West syndrome.

Authors:

Takashi Shiihara Momoyo Miyashita Masakazu Yoshizumi Mio Watanabe Yoshiyuki Yamada Masahiko Kato

Brain Dev 2010 Oct 1;32(9):695-702. Epub 2009 Dec 1.

Department of Neurology, Gunma Children's Medical Center, 779 Shimohakoda Hokkitsu-machi, Shibukawa, Gunma 377-8577, Japan.

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October 2010

Correspondence: A further case of opsoclonus-myoclonus syndrome associated with Mycoplasma pneumoniae infection.

Authors:

Takashi Shiihara Yukitoshi Takahashi

Eur J Pediatr 2010 May 27;169(5):639; author reply 641. Epub 2009 Nov 27.

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May 2010

Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency.

Authors:

Shuhei Ide Masayuki Sasaki Mitsuhiro Kato Takashi Shiihara Satoru Kinoshita Jun-ya Takahashi Yu-ichi Goto

Brain Dev 2010 Jun 10;32(6):506-10. Epub 2009 Jun 10.

Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.

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June 2010

A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia.

Authors:

Takashi Shiihara Ken-ichi Maruyama Yoshiyuki Yamada Akira Nishimura Naomichi Matsumoto Mitsuhiro Kato Satoru Sakazume

Brain Dev 2010 Jun 23;32(6):502-5. Epub 2009 May 23.

Department of Neurology, Gunma Children's Medical Center, 779 Shimohakoda, Hokkitsu-machi, Shibukawa, Gunma 377-8577, Japan.

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June 2010

A patient with early onset Huntington disease and severe cerebellar atrophy.

Authors:

Satoru Sakazume Satoshi Yoshinari Eiji Oguma Emi Utsuno Takuma Ishii Yoko Narumi Takashi Shiihara Hirofumi Ohashi

Am J Med Genet A 2009 Feb;149A(4):598-601

Division of Medical Genetics, Gunma Children's Medical Center, Gunma, Japan.

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February 2009

Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.

Authors:

Andreas Dietrich Verena Matejas Martin Bitzan Seema Hashmi Cathy Kiraly-Borri Shuan-Pei Lin Eva Mildenberger Bernd Hoppe Lars Palm Takashi Shiihara Jens-Oliver Steiss Jeng-Daw Tsai Udo Vester Stefanie Weber Elke Wühl Kristina Zepf Martin Zenker

Pediatr Nephrol 2008 Oct 2;23(10):1779-86. Epub 2008 Jul 2.

Institute of Human Genetics, University of Erlangen-Nuremberg, Schwabachanlage 10, 91054, Erlangen, Germany.

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October 2008

Rotavirus associated acute encephalitis/encephalopathy and concurrent cerebellitis: report of two cases.

Authors:

Takashi Shiihara Mio Watanabe Ayako Honma Masahiko Kato Yukio Morita Takashi Ichiyama Kenichi Maruyama

Brain Dev 2007 Nov 29;29(10):670-3. Epub 2007 May 29.

Department of Neurology, Gunma Children's Medical Center, 779 Shimohakoda, Hokkitsu-machi, Shibukawa, Gunma 377-8577, Japan.

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November 2007

Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta2 autoantibody.

Authors:

Takashi Shiihara Mitsuhiro Kato Akihiro Konno Yukitoshi Takahashi Kiyoshi Hayasaka

Brain Dev 2007 May 16;29(4):254-6. Epub 2006 Oct 16.

Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.

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May 2007

Acute encephalopathy with refractory status epilepticus: bilateral mesial temporal and claustral lesions, associated with a peripheral marker of oxidative DNA damage.

Authors:

Takashi Shiihara Mitsuhiro Kato Takashi Ichiyama Yukitoshi Takahashi Naoyuki Tanuma Rie Miyata Kiyoshi Hayasaka

J Neurol Sci 2006 Dec 28;250(1-2):159-61. Epub 2006 Aug 28.

Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.

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December 2006

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.

Authors:

Naohiro Kurotaki Joseph J Shen Mayumi Touyama Tatsuro Kondoh Remco Visser Takao Ozaki Junji Nishimoto Takashi Shiihara Kimiaki Uetake Yoshio Makita Naoki Harada Salmo Raskin Chester W Brown Pia Höglund Nobuhiko Okamoto James R Lupski

Genet Med 2005 Sep;7(7):479-83

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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September 2005

Costello syndrome showing moyamoya-like vasculopathy.

Authors:

Takashi Shiihara Mitsuhiro Kato Yoshihiko Mitsuhashi Kiyoshi Hayasaka

Pediatr Neurol 2005 May;32(5):361-3

Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.

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May 2005

Clinically mild encephalitis/encephalopathy with a reversible splenial lesion.

Authors:

Takashi Shiihara Mitsuhiro Kato Kiyoshi Hayasaka

Neurology 2005 Apr;64(8):1487; author reply 1487

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April 2005

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.

Authors:

Takashi Shiihara Yukio Sawaishi Michito Adachi Mitsuhiro Kato Kiyoshi Hayasaka

J Neurol Sci 2004 Oct;225(1-2):125-7

Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.

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October 2004

Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy.

Authors:

Takashi Shiihara Mitsuhiro Kato Toshiyuki Kimura Kiyoshi Hayasaka Shunji Yamamori Tsutomu Ogata

Am J Med Genet A 2004 Jul;128A(2):214-6

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July 2004

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Hum Mutat 2003 Nov;22(5):378-87

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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November 2003

Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome.

Authors:

Takashi Shiihara Mitsuhiro Kato Toshiyuki Kimura Akira Matsunaga Kensuke Joh Kiyoshi Hayasaka

J Child Neurol 2003 Feb;18(2):147-9

Department of Pediatrics, Yamagata University School of Medicine, Japan.

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February 2003

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.

Am J Hum Genet 2003 May 9;72(5):1331-7. Epub 2003 Apr 9.

Departments of Human Genetics and Pediatrics, Nagasaki University School of Medicine, Nagasaki; and CREST, Japan Science and Technology Corporation, Kawaguchi, Japan.

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May 2003

Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients.

Authors:

Gen Nishimura Tomomi Honma Takashi Shiihara Noriyo Manabe Eiji Nakajima Masanori Adachi Makoto Mikawa Yoshimitsu Fukushima Shiro Ikegawa

Am J Med Genet A 2003 Mar;117A(2):147-53

Japanese Consortium for Skeletal Dysplasia, Tokyo, Japan.

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March 2003

Progressive sliding hiatal hernia as a complication of Menkes' syndrome.

Authors:

Takashi Shiihara Mitsuhiro Kato Tomomi Honma Toshiyuki Kimura Akira Matsunaga Hiroko Kodama Kiyoshi Hayasaka

J Child Neurol 2002 May;17(5):401-2

Department of Pediatrics, Yamagata University School of Medicine, Japan.

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May 2002

Fluctuation of computed tomographic findings in white matter in Alexander's disease.

Authors:

Takashi Shiihara Mitsuhiro Kato Tomomi Honma Shinsuke Ohtaki Yukio Sawaishi Kiyoshi Hayasaka

J Child Neurol 2002 Mar;17(3):227-30

Department of Pediatrics, Yamagata University School of Medicine, Japan.

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March 2002

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