Takashi Shiihara

Takashi Shiihara

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Takashi Shiihara

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Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.

Authors:
Akiko Shibata Mariko Kasai Ai Hoshino Taku Miyagawa Hiroshi Matsumoto Gaku Yamanaka Kenjiro Kikuchi Ichiro Kuki Akira Kumakura Shinya Hara Takashi Shiihara Sawako Yamazaki Masayasu Ohta Takanori Yamagata Jun-Ichi Takanashi Masaya Kubota Akira Oka Masashi Mizuguchi

Brain Dev 2019 Jul 24. Epub 2019 Jul 24.

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

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http://dx.doi.org/10.1016/j.braindev.2019.07.008DOI Listing
July 2019

Rhinovirus-associated acute encephalitis/encephalopathy and cerebellitis.

Authors:
Kyoko Hazama Takashi Shiihara Hiroyuki Tsukagoshi Takeshi Matsushige Yuri Dowa Mio Watanabe

Brain Dev 2019 Jun 6;41(6):551-554. Epub 2019 Mar 6.

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

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https://linkinghub.elsevier.com/retrieve/pii/S03877604183052
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http://dx.doi.org/10.1016/j.braindev.2019.02.014DOI Listing
June 2019

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Authors:
Atsushi Takata Mitsuko Nakashima Hirotomo Saitsu Takeshi Mizuguchi Satomi Mitsuhashi Yukitoshi Takahashi Nobuhiko Okamoto Hitoshi Osaka Kazuyuki Nakamura Jun Tohyama Kazuhiro Haginoya Saoko Takeshita Ichiro Kuki Tohru Okanishi Tomohide Goto Masayuki Sasaki Yasunari Sakai Noriko Miyake Satoko Miyatake Naomi Tsuchida Kazuhiro Iwama Gaku Minase Futoshi Sekiguchi Atsushi Fujita Eri Imagawa Eriko Koshimizu Yuri Uchiyama Kohei Hamanaka Chihiro Ohba Toshiyuki Itai Hiromi Aoi Ken Saida Tomohiro Sakaguchi Kouhei Den Rina Takahashi Hiroko Ikeda Tokito Yamaguchi Kazuki Tsukamoto Shinsaku Yoshitomi Taikan Oboshi Katsumi Imai Tomokazu Kimizu Yu Kobayashi Masaya Kubota Hirofumi Kashii Shimpei Baba Mizue Iai Ryutaro Kira Munetsugu Hara Masayasu Ohta Yohane Miyata Rie Miyata Jun-Ichi Takanashi Jun Matsui Kenji Yokochi Masayuki Shimono Masano Amamoto Rumiko Takayama Shinichi Hirabayashi Kaori Aiba Hiroshi Matsumoto Shin Nabatame Takashi Shiihara Mitsuhiro Kato Naomichi Matsumoto

Nat Commun 2019 06 7;10(1):2506. Epub 2019 Jun 7.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s41467-019-10482-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555845PMC
June 2019

Sweet Potato Was Not So Sweet: Undetected Foreign-body Aspiration in a Healthy Child Leading to Acute Bronchial Asthma.

Authors:
Yuri Dowa Yoshiyuki Yamada Masahiko Kato Naoki Matsumoto Yuichi Kama Takashi Shiihara

Tokai J Exp Clin Med 2019 Apr 20;44(1):1-4. Epub 2019 Apr 20.

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

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April 2019

variants in and cause neurodevelopmental disorders.

Authors:
Tenpei Akita Kazushi Aoto Mitsuhiro Kato Masaaki Shiina Hiroki Mutoh Mitsuko Nakashima Ichiro Kuki Shin Okazaki Shinichi Magara Takashi Shiihara Kenji Yokochi Kaori Aiba Jun Tohyama Chihiro Ohba Satoko Miyatake Noriko Miyake Kazuhiro Ogata Atsuo Fukuda Naomichi Matsumoto Hirotomo Saitsu

Ann Clin Transl Neurol 2018 03 29;5(3):280-296. Epub 2018 Jan 29.

Department of Biochemistry Hamamatsu University School of Medicine 1-20-1 Handayama, Higashi-ku Hamamatsu 431-3192 Japan.

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http://dx.doi.org/10.1002/acn3.528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846454PMC
March 2018

A case of mumps-related acute encephalopathy with biphasic seizures and late reduced diffusion.

Authors:
Kyoko Hazama Takashi Shiihara Hiroyuki Tsukagoshi Shunji Hasegawa Yuri Dowa Mio Watanabe

Brain Dev 2017 Oct 10;39(9):808-810. Epub 2017 May 10.

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

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http://dx.doi.org/10.1016/j.braindev.2017.04.012DOI Listing
October 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord.

Authors:
Mitsugu Uematsu Kazuhiro Haginoya Atsuo Kikuchi Naomi Hino-Fukuyo Keiko Ishii Takashi Shiihara Mitsuhiro Kato Atsushi Kamei Shigeo Kure

Brain Dev 2016 Oct 8;38(9):819-26. Epub 2016 Apr 8.

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

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https://linkinghub.elsevier.com/retrieve/pii/S03877604163002
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http://dx.doi.org/10.1016/j.braindev.2016.03.006DOI Listing
October 2016

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings.

Authors:
Takashi Shiihara Mio Watanabe Kengo Moriyama Yasuhiro Maruyama Atsuo Kikuchi Natsuko Arai-Ichinoi Mitsugu Uematsu Kiyoko Sameshima

Brain Dev 2016 Sep 28;38(8):763-7. Epub 2016 Feb 28.

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

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http://dx.doi.org/10.1016/j.braindev.2016.02.009DOI Listing
September 2016

A mild case of giant axonal neuropathy without central nervous system manifestation.

Authors:
Reiko Koichihara Takashi Saito Akihiko Ishiyama Hirofumi Komaki Shota Yuasa Yoshiaki Saito Eiji Nakagawa Kenji Sugai Takashi Shiihara Ayako Shioya Yuko Saito Yujiro Higuchi Akihiro Hashiguchi Hiroshi Takashima Masayuki Sasaki

Brain Dev 2016 Mar 14;38(3):350-3. Epub 2015 Sep 14.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S03877604150018
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http://dx.doi.org/10.1016/j.braindev.2015.09.001DOI Listing
March 2016

Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD).

Authors:
Hiroko Tada Jun-ichi Takanashi Hideo Okuno Masaya Kubota Takanori Yamagata Gou Kawano Takashi Shiihara Shin-ichiro Hamano Shinichi Hirose Takuya Hayashi Hitoshi Osaka Masashi Mizuguchi

J Neurol Sci 2015 Nov 12;358(1-2):62-5. Epub 2015 Aug 12.

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

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http://dx.doi.org/10.1016/j.jns.2015.08.016DOI Listing
November 2015

[Evaluation of surgical treatment for intractable aspiration in neurologically impaired patients: our experience with 20 patients].

Authors:
Mio Watanabe Takashi Shiihara

No To Hattatsu 2015 Nov;47(6):439-44

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November 2015

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

Authors:
Chihiro Ohba Mitsuhiro Kato Nobuya Takahashi Hitoshi Osaka Takashi Shiihara Jun Tohyama Shin Nabatame Junji Azuma Yuji Fujii Munetsugu Hara Reimi Tsurusawa Takahito Inoue Reina Ogata Yoriko Watanabe Noriko Togashi Hirofumi Kodera Mitsuko Nakashima Yoshinori Tsurusaki Noriko Miyake Fumiaki Tanaka Hirotomo Saitsu Naomichi Matsumoto

Epilepsia 2015 Sep 3;56(9):e121-8. Epub 2015 Jul 3.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1111/epi.13072DOI Listing
September 2015

Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.

Authors:
Masakazu Mimaki Takashi Shiihara Mio Watanabe Kyoko Hirakata Satoru Sakazume Akio Ishiguro Keiko Shimojima Toshiyuki Yamamoto Akira Oka Masashi Mizuguchi

Brain Dev 2015 Aug 8;37(7):714-8. Epub 2014 Nov 8.

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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http://dx.doi.org/10.1016/j.braindev.2014.10.009DOI Listing
August 2015

Response.

Authors:
Kengo Moriyama Mio Watanabe Yoshiyuki Yamada Takashi Shiihara

Pediatr Neurol 2015 Jun 6;52(6):e13. Epub 2015 Mar 6.

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

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.03.002DOI Listing
June 2015

Protein-losing enteropathy as a rare complication of the ketogenic diet.

Authors:
Kengo Moriyama Mio Watanabe Yoshiyuki Yamada Takashi Shiihara

Pediatr Neurol 2015 May 26;52(5):526-8. Epub 2015 Jan 26.

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

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https://linkinghub.elsevier.com/retrieve/pii/S08878994150003
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http://dx.doi.org/10.1016/j.pediatrneurol.2015.01.009DOI Listing
May 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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http://dx.doi.org/10.1016/j.braindev.2014.06.011DOI Listing
April 2015

Clinically mild encephalitis with a reversible splenial lesion (MERS) after mumps vaccination.

Authors:
Jun-Ichi Takanashi Takashi Shiihara Takeshi Hasegawa Masaru Takayanagi Munetsugu Hara Akihisa Okumura Masashi Mizuguchi

J Neurol Sci 2015 Feb 18;349(1-2):226-8. Epub 2014 Dec 18.

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

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http://dx.doi.org/10.1016/j.jns.2014.12.019DOI Listing
February 2015

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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https://linkinghub.elsevier.com/retrieve/pii/S03877604130020
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http://dx.doi.org/10.1016/j.braindev.2013.06.011DOI Listing
June 2014

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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http://dx.doi.org/10.1007/s00234-014-1350-2DOI Listing
May 2014

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

Authors:
Kazuyuki Nakamura Hirofumi Kodera Tenpei Akita Masaaki Shiina Mitsuhiro Kato Hideki Hoshino Hiroshi Terashima Hitoshi Osaka Shinichi Nakamura Jun Tohyama Tatsuro Kumada Tomonori Furukawa Satomi Iwata Takashi Shiihara Masaya Kubota Satoko Miyatake Eriko Koshimizu Kiyomi Nishiyama Mitsuko Nakashima Yoshinori Tsurusaki Noriko Miyake Kiyoshi Hayasaka Kazuhiro Ogata Atsuo Fukuda Naomichi Matsumoto Hirotomo Saitsu

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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http://dx.doi.org/10.1016/j.ajhg.2013.07.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3769919PMC
September 2013

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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http://dx.doi.org/10.1212/WNL.0b013e31828f18d8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3662331PMC
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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http://dx.doi.org/10.1111/j.1442-200X.2012.03594.xDOI Listing
October 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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http://dx.doi.org/10.1016/j.braindev.2011.06.007DOI Listing
April 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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http://dx.doi.org/10.1111/j.1442-200X.2011.03454.xDOI Listing
February 2012

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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http://dx.doi.org/10.1016/j.braindev.2010.10.007DOI Listing
August 2011

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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http://dx.doi.org/10.1097/MCD.0b013e32834659a8DOI Listing
July 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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http://dx.doi.org/10.1016/j.braindev.2010.09.002DOI Listing
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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http://dx.doi.org/10.1016/j.braindev.2010.04.002DOI Listing
January 2011

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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http://dx.doi.org/10.1016/j.braindev.2009.11.001DOI Listing
October 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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http://dx.doi.org/10.1016/j.braindev.2009.04.015DOI Listing
June 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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http://dx.doi.org/10.1016/j.braindev.2009.05.004DOI Listing
June 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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http://dx.doi.org/10.1007/s00431-009-1105-yDOI Listing
May 2010

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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http://dx.doi.org/10.1002/ajmg.a.33177DOI Listing
January 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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http://dx.doi.org/10.1002/ajmg.a.32707DOI Listing
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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http://dx.doi.org/10.1007/s00467-008-0880-4DOI Listing
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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http://dx.doi.org/10.1016/j.braindev.2007.04.005DOI Listing
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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https://linkinghub.elsevier.com/retrieve/pii/S03877604060021
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http://dx.doi.org/10.1016/j.braindev.2006.09.004DOI Listing
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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https://linkinghub.elsevier.com/retrieve/pii/S0022510X060033
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http://dx.doi.org/10.1016/j.jns.2006.07.002DOI Listing
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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http://dx.doi.org/10.109701.GIM.0000177419.43309.37DOI Listing
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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http://dx.doi.org/10.1016/j.pediatrneurol.2004.12.010DOI Listing
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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http://dx.doi.org/10.1016/j.jns.2004.07.008DOI Listing
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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http://dx.doi.org/10.1002/ajmg.a.20552DOI Listing
July 2004

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

Authors:
Naohiro Kurotaki Naoki Harada Osamu Shimokawa Noriko Miyake Hiroshi Kawame Kimiaki Uetake Yoshio Makita Tatsuro Kondoh Tsutomu Ogata Tomoko Hasegawa Toshiro Nagai Takao Ozaki Mayumi Touyama Ruthie Shenhav Hirofumi Ohashi Livija Medne Takashi Shiihara Shigeyuki Ohtsu Zen-ichiro Kato Nobuhiko Okamoto Junji Nishimoto Dorit Lev Yoko Miyoshi Satoshi Ishikiriyama Tohru Sonoda Satoru Sakazume Yoshimitsu Fukushima Kenji Kurosawa Jan-Fang Cheng Koh-ichiro Yoshiura Tohru Ohta Tatsuya Kishino Norio Niikawa Naomichi Matsumoto

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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http://doi.wiley.com/10.1002/humu.10270
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http://dx.doi.org/10.1002/humu.10270DOI Listing
November 2003

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

Authors:
Noriko Miyake Naohiro Kurotaki Hirobumi Sugawara Osamu Shimokawa Naoki Harada Tatsuro Kondoh Masato Tsukahara Satoshi Ishikiriyama Tohru Sonoda Yoko Miyoshi Satoru Sakazume Yoshimitsu Fukushima Hirofumi Ohashi Toshiro Nagai Hiroshi Kawame Kenji Kurosawa Mayumi Touyama Takashi Shiihara Nobuhiko Okamoto Junji Nishimoto Ko-ichiro Yoshiura Tohru Ohta Tatsuya Kishino Norio Niikawa Naomichi Matsumoto

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180287PMC
http://dx.doi.org/10.1086/375166DOI Listing
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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https://www.orpha.net/data/patho/GB/uk-SEMD05.pdf
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https://pdfs.journals.lww.com/clindysmorphol/2004/07000/Spon
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https://www.researchgate.net/profile/Andrea_Superti-Furga/3
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http://doi.wiley.com/10.1002/ajmg.a.10927
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http://dx.doi.org/10.1002/ajmg.a.10927DOI Listing
March 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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http://dx.doi.org/10.1177/08830738030180021801DOI Listing
February 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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http://dx.doi.org/10.1177/088307380201700521DOI Listing
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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http://dx.doi.org/10.1177/088307380201700316DOI Listing
March 2002