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1

Altered distribution of β-Dystroglycan in sarcolemma of human dystrophic muscles: An immunohistochemical study

Dr. Takahiro Jimi, Dr. Yoshihiro Wakayama, Dr. Atsushi Takeda, Dr. Takuya Kobayashi, Dr. Toshiyuki Kumagai, Dr. Yume Suzuki, Dr. Osamu Hasegawa, Dr. Sumimasa Yamashita, Dr. Seiji Shibuya, Dr. Yoshiyuk

Journal:

Year:

1995

Language:

english

File:

PDF, 431 KB

english, 1995

2

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

Kato, Mitsuhiro, Yamagata, Takanori, Kubota, Masaya, Arai, Hiroshi, Yamashita, Sumimasa, Nakagawa, Taku, FujII, Takanari, Sugai, Kenji, Imai, Kaoru, Uster, Tami, Chitayat, David, Weiss, Shelly, Kashii

Journal:

Year:

2013

Language:

english

File:

PDF, 332 KB

english, 2013

3

Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25)

Dr. Yoshio Makita, Mitsuo Masuno, Kiyoshi Imaizumi, Sumimasa Yamashita, Shizuko Ohba, Daizou Ito, Yoshikazu Kuroki

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 306 KB

english, 1995

4

Mutational analysis of familial and sporadic hyperekplexia

Dr Rita Shiang, Stephen G. Ryan, Ya-Zhen Zhu, Thomas J. Fielder, Richard J. Allen, Alan Fryer, Sumimasa Yamashita, Peter O'Connell, John J. Wasmuth

Journal:

Annals of Neurology

Year:

1995

Language:

english

File:

PDF, 679 KB

english, 1995

5

Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation

Hitoshi Osaka, Ikuo Ogiwara, Emi Mazaki, Nami Okamura, Sumimasa Yamashita, Mizue Iai, Michiko Yamada, Kenji Kurosawa, Hiroko Iwamoto, Norio Yasui-Furukori, Sunao Kaneko, Tateki Fujiwara, Yushi Inoue,

Journal:

Epilepsy Research

Year:

2007

Language:

english

File:

PDF, 440 KB

english, 2007

6

Observations of muscle plasma membrane undercoats in Duchenne and fukuyama muscula dystrophies

Makoto Murahashi, Yoshihiro Wakayama, Toshiyuki Kumagai, Takuya Kobayashi, Sumimasa Yamashita, Nobuko Misugi, Shota Miyake, Seiji Shibuya, Takahiro Jimi, Hiroaki Oniki

Journal:

Medical Molecular Morphology

Year:

1995

Language:

english

File:

PDF, 4.37 MB

english, 1995

7

Neuronal and glial accumulation of α- and β-synucleins in human lipidoses

Kyoko Suzuki, Eizo Iseki, Takashi Togo, Akira Yamaguchi, Omi Katsuse, Kayoko Katsuyama, Seiichi Kanzaki, Kazumasa Shiozaki, Chiaki Kawanishi, Sumimasa Yamashita, Yukichi Tanaka, Shoji Yamanaka, Yoshio

Journal:

Acta Neuropathologica

Year:

2007

Language:

english

File:

PDF, 619 KB

english, 2007

8

Autopsy case of acute encephalopathy linked to familial hemiplegic migraine with cerebellar atrophy and mental retardation

Tatsuya Takahashi, Nobutaka Arai, Megumi Shimamura, Yume Suzuki, Sumimasa Yamashita, Hiroko Iwamoto, Yoshiaki Inayama, Youichi Kameda, Yoshiyuki Kuroiwa

Journal:

Year:

2005

Language:

english

File:

PDF, 350 KB

english, 2005

9

An 8-year-old boy with gait disturbance and the rapid increase of muscle tonus

Sumimasa Yamashita

Journal:

Year:

2010

Language:

english

File:

PDF, 1.02 MB

english, 2010

10

A case of a girl with poor school achievement, ataxia and neurological deterioration

Sumimasa Yamashita

Journal:

Year:

2012

Language:

english

File:

PDF, 4.65 MB

english, 2012

11

ESES Syndrome with Acquired Aphasia

Sumimasa Yamashita, Michiko Yamada, Hiroko Iwamoto

Journal:

Year:

2000

Language:

english

File:

PDF, 75 KB

english, 2000

12

Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter

Jun Tohyama, Noriyuki Akasaka, Hitoshi Osaka, Yoshihiro Maegaki, Mitsuhiro Kato, Naka Saito, Sumimasa Yamashita, Kousaku Ohno

Journal:

Brain and Development

Year:

2008

Language:

english

File:

PDF, 539 KB

english, 2008

13

Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation

Hitoshi Osaka, Shiro Koizume, Haruhiko Aoyama, Hiroko Iwamoto, Seiji Kimura, Jun-ichi Nagai, Kenji Kurosawa, Sumimasa Yamashita

Journal:

Brain and Development

Year:

2010

Language:

english

File:

PDF, 377 KB

english, 2010

14

5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant

Megumi Tsuji, Atsushi Takagi, Kiyoko Sameshima, Mizue Iai, Sumimasa Yamashita, Hiroko Shinbo, Noritaka Furuya, Kenji Kurosawa, Hitoshi Osaka

Journal:

Brain and Development

Year:

2011

Language:

english

File:

PDF, 375 KB

english, 2011

15

Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia

Yu Tsuyusaki, Hiroko Shimbo, Takahito Wada, Mizue Iai, Megumi Tsuji, Sumimasa Yamashita, Noriko Aida, Shigeo Kure, Hitoshi Osaka

Journal:

Brain and Development

Year:

2012

Language:

english

File:

PDF, 456 KB

english, 2012

16

Clinical Course of Epilepsies with Cortical Dysplasia.

Sumimasa Yamashita, Yuko Matsushita, Takahito Wada, Shota Miyake, Michiko Yamada, Hiroko Iwamoto

Journal:

Year:

1996

Language:

english

File:

PDF, 216 KB

english, 1996

17

Congenital hypomyelination polyneuropathy — a study of two cases

Sumimasa Yamashita, Shota Miyake, Michiko Yamada, Hiroko Iwamoto, Nobuko Misugi

Journal:

Brain and Development

Year:

1995

Language:

english

File:

PDF, 151 KB

english, 1995

18

A case of moyamoya disease with marked Virchow-Robin spaces diagnosed by MRI and MR angiography

Shouta Miyake, Kayo Ichihashi, Hidee Tan, Kimiko Deguchi, Sumimasa Yamashita, Michiko Yamada, Hiroko Iwamoto, Noriko Aida

Journal:

Brain and Development

Year:

1995

Language:

english

File:

PDF, 295 KB

english, 1995

19

Changes in the amounts of myelin lipids and molecular species of plasmalogen PE in the brain of an autopsy case with d-bifunctional protein deficiency

Makiko Saitoh, Sumimasa Yamashita, Nobuyuki Shimozawa, Masashi Mizuguchi, Masao Iwamori

Journal:

Neuroscience Letters

Year:

2008

Language:

english

File:

PDF, 557 KB

english, 2008

20

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

Hitoshi Osaka, Atsushi Takagi, Yu Tsuyusaki, Takahito Wada, Mizue Iai, Sumimasa Yamashita, Hiroko Shimbo, Hirotomo Saitsu, Gajja S. Salomons, Cornelis Jakobs, Noriko Aida, Shinka Toshihiro, Tomiko Kuh

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 736 KB

english, 2012

21

Infantile spongiform leukoencephalopathy: clinical and neuropathologic findings

Sumimasa Yamashita, Hiroko Iwamoto, Masamichi Hara, Nobutaka Arai

Journal:

Pediatric Neurology

Year:

2002

Language:

english

File:

PDF, 292 KB

english, 2002

22

A Clinical and EEG Study of Predominantly Unilateral Seizures in Children–Comparison with Severe Myoclonic Epilepsy in Infancy

Shota Miyake, Sumimasa Yamashita, Michiko Yamada, Hiroko Iwamoto

Journal:

Psychiatry and Clinical Neurosciences

Year:

1987

Language:

english

File:

PDF, 257 KB

english, 1987

23

Neonatal Asphyxia and Subsequent Epilepsy

Sumimasa Yamashita, Yohko Sugio, Shohta Miyake, Michiko Yamada, Hiroko Iwamoto

Journal:

Psychiatry and Clinical Neurosciences

Year:

1987

Language:

english

File:

PDF, 119 KB

english, 1987

24

Neonatal Asphyxia and Subsequent Epilepsy—A Prospective Study

Sumimasa Yamashita, Yohko Sugio, Shohta Miyake, Michiko Yamada, Hiroko Iwamoto, Akiko Goto

Journal:

Psychiatry and Clinical Neurosciences

Year:

1988

Language:

english

File:

PDF, 135 KB

english, 1988

25

Comprehensive Management of Children with Epilepsy—From Standpoint of a Medical Practitioner in Children's Hospital

Shota Miyake, Noriyuki Ootsuki, Sumimasa Yamashita, Michiko Yamada, Hiroko Iwamoto

Journal:

Psychiatry and Clinical Neurosciences

Year:

1988

Language:

english

File:

PDF, 362 KB

english, 1988

26

Three Cases with Secondary Generalized Epilepsy Caused by Frontal Organic Lesion

Sumimasa Yamashita, Yoshiko Nomura, Masaya Segawa

Journal:

Psychiatry and Clinical Neurosciences

Year:

1989

Language:

english

File:

PDF, 141 KB

english, 1989

27

Schoolchildren with Epilepsy: Epidemiological and Longitudinal Studies on Questionnaire for Teachers at Intervals of 12 Years

Shota Miyake, Sumimasa Yamashita, Michiko Yamada, Hiroko Iwamoto

Journal:

Psychiatry and Clinical Neurosciences

Year:

1991

Language:

english

File:

PDF, 187 KB

english, 1991

28

Social Aspects: Problems of the Notification of the Name of Epilepsy: Questionnaire Study for Parents, Teachers and Pediatricians

Shota Miyake, Sumimasa Yamashita, Michiko Yamada, Hiroko Iwamoto

Journal:

Psychiatry and Clinical Neurosciences

Year:

1992

Language:

english

File:

PDF, 184 KB

english, 1992

29

Screening of the early growth response 2 gene in Japanese patients with Charcot–Marie–Tooth disease type 1

Chikahiko Numakura, Emi Shirahata, Sumimasa Yamashita, Masayo Kanai, Kazuki Kijima, Takasumi Matsuki, Kiyoshi Hayasaka

Journal:

Journal of the Neurological Sciences

Year:

2003

Language:

english

File:

PDF, 111 KB

english, 2003

30

A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype

Nobutada Tachi, Naoki Kozuka, Kazuhiro Ohya, Shunzo Chiba, Sumimasa Yamashita

Journal:

Journal of the Neurological Sciences

Year:

1998

Language:

english

File:

PDF, 661 KB

english, 1998

31

Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2

Yamashita, Sumimasa, Miyake, Noriko, Matsumoto, Naomichi, Osaka, Hitoshi, Iai, Mizue, Aida, Noriko, Tanaka, Yukichi

Journal:

Brain and Development

Year:

2013

Language:

english

File:

PDF, 771 KB

english, 2013

32

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

Chihiro Ohba,Hitoshi Osaka,Mizue Iai,Sumimasa Yamashita,Yume Suzuki…

Journal:

Year:

2013

Language:

english

File:

PDF, 344 KB

english, 2013

33

Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8

Kato, Hidekazu, Miyake, Fuyu, Shimbo, Hiroko, Ohya, Makoto, Sugawara, Hidenori, Aida, Noriko, Anzai, Rie, Takagi, Mariko, Okuda, Mitsuko, Takano, Kyoko, Wada, Takahito, Iai, Mizue, Yamashita, Sumimasa

Journal:

Brain and Development

Year:

2014

Language:

english

File:

PDF, 330 KB

english, 2014

34

Increased number of Hassall's corpuscles in myasthenia gravis patients with thymic hyperplasia

Matsui, Naoko, Ohigashi, Izumi, Tanaka, Keijirou, Sakata, Mie, Furukawa, Takahiro, Nakagawa, Yasushi, Kondo, Kazuya, Kitagawa, Tetsuya, Yamashita, Sumimasa, Nomura, Yoshiko, Takahama, Yousuke, Kaji, R

Journal:

Journal of Neuroimmunology

Year:

2014

Language:

english

File:

PDF, 1.68 MB

english, 2014

35

Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome

Kouga, Takeshi, Shimbo, Hiroko, Iai, Mizue, Yamashita, Sumimasa, Ishii, Atsushi, Ihara, Yukiko, Hirose, Shinichi, Yamakawa, Kazuhiro, Osaka, Hitoshi

Journal:

Brain and Development

Year:

2015

Language:

english

File:

PDF, 221 KB

english, 2015

36

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

Shimbo, Hiroko, Takagi, Mariko, Okuda, Mitsuko, Tsuyusaki, Yu, Takano, Kyoko, Iai, Mizue, Yamashita, Sumimasa, Murayama, Kei, Ohtake, Akira, Goto, Yu-ichi, Aida, Noriko, Osaka, Hitoshi

Journal:

Molecular Genetics and Metabolism Reports

Year:

2014

Language:

english

File:

PDF, 123 KB

english, 2014

37

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations

Tanigawa, Junpei, Kaneko, Kaori, Honda, Masakazu, Harashima, Hiroko, Murayama, Kei, Wada, Takahito, Takano, Kyoko, Iai, Mizue, Yamashita, Sumimasa, Shimbo, Hiroko, Aida, Noriko, Ohtake, Akira, Osaka,

Journal:

Brain and Development

Year:

2012

Language:

english

File:

PDF, 504 KB

english, 2012

38

Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome

Miyazaki, Celine, Saitoh, Makiko, Itoh, Masayuki, Yamashita, Sumimasa, Miyagishi, Makoto, Takashima, Sachio, Moser, Ann B., Iwamori, Masao, Mizuguchi, Masashi

Journal:

Neuroscience Letters

Year:

2013

Language:

english

File:

PDF, 1.07 MB

english, 2013

39

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly

Saitsu, Hirotomo, Yamashita, Sumimasa, Tanaka, Yukichi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Matsumoto, Naomichi

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.21 MB

english, 2014

40

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy

Takano, Kyoko, Tsuyusaki, Yu, Sato, Mutsumi, Takagi, Mariko, Anzai, Rie, Okuda, Mitsuko, Iai, Mizue, Yamashita, Sumimasa, Okabe, Tetsuhiko, Aida, Noriko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Matsum

Journal:

Brain and Development

Year:

2015

Language:

english

File:

PDF, 659 KB

english, 2015

41

Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy

Tamaura, Moe, Shimbo, Hiroko, Iai, Mizue, Yamashita, Sumimasa, Osaka, Hitoshi

Journal:

Brain and Development

Year:

2015

Language:

english

File:

PDF, 711 KB

english, 2015

42

Reduced Aquaporin 4 Expression in the Muscle Plasma Membrane of Patients With Duchenne Muscular Dystrophy

Wakayama, Yoshihiro, Jimi, Takahiro, Inoue, Masahiko, Kojima, Hiroko, Murahashi, Makoto, Kumagai, Toshiyuki, Yamashita, Sumimasa, Hara, Hajime, Shibuya, Seiji

Journal:

Archives of Neurology

Year:

2002

Language:

english

File:

PDF, 369 KB

english, 2002

43

Analysis of Measles Virus Binding Sites of the CD46 Gene in Patients with Subacute Sclerosing Panencephalitis

Kusuhara, Koichi, Sasaki, Yuka, Nakao, Futoshi, Ihara, Kenji, Hattori, Hideji, Yamashita, Sumimasa, Nihei, Kenji, Koide, Nobuo, Aiba, Hideo, Takeshita, Kenzo, Hara, Toshiro

Journal:

The Journal of Infectious Diseases

Year:

2000

Language:

english

File:

PDF, 53 KB

english, 2000

44

Dysbindin, Syncoilin, and ββ-Synemin mRNA Levels in Dystrophic Muscles

Wakayama, Yoshihiro, Matsuzaki, Yoko, Yamashita, Sumimasa, Inoue, Masahiko, Jimi, Takahiro, Hara, Hajime, Unaki, Akihiko, Iijima, Shoji, Masaki, Hisatsugu

Journal:

International Journal of Neuroscience

Year:

2010

Language:

english

File:

PDF, 290 KB

english, 2010

45

A Child with Three Episodes of Reversible Splenial Lesion

Kouga, Takeshi, Iai, Mizue, Yamashita, Sumimasa, Aida, Noriko, Takanashi, Jun-ichi, Osaka, Hitoshi

Journal:

Neuropediatrics

Year:

2012

Language:

english

File:

PDF, 238 KB

english, 2012

46

A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease

Omata, Taku, Nagai, Jun-ichi, Shimbo, Hiroko, Koizume, Shiro, Miyagi, Yohei, Kurosawa, Kenji, Yamashita, Sumimasa, Osaka, Hitoshi, Inoue, Ken

Journal:

Brain and Development

Year:

2015

Language:

english

File:

PDF, 481 KB

english, 2015

47

A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18

Murakami, Ayumi, Tanaka, Mio, Ijiri, Rieko, Kato, Keisuke, Yamashita, Sumimasa, Kurosawa, Kenji, Arai, Nobutaka, Aoki, Ichiro, Tanaka, Yukichi

Journal:

Pathology International

Year:

2016

Language:

english

File:

PDF, 653 KB

english, 2016

48

Expression of Selectin Families and Their Ligand Sialyl Lewis X in the Muscles of Inflammatory Myopathies. An Immunohistochemical Study.

JIMI, Takahiro, WAKAYAMA, Yoshihiro, MURAHASHI, Makoto, INOUE, Masahiko, SHIBUYA, Seiji, YAMASHITA, Sumimasa, MISUGI, Nobuko, KOBAYASHI, Takuya

Journal:

Internal Medicine

Year:

1999

Language:

english

File:

PDF, 1.60 MB

english, 1999

49

Measles virus-specific T helper 1/T helper 2-cytokine production in subacute sclerosing panencephalitis

Hara, Toshiro, Yamashita, Sumimasa, Aiba, Hideo, Nihei, Kenji, Koide, Nobuo, Good, Robert A, Takeshita, Kenzo

Journal:

Journal of NeuroVirology

Year:

2000

Language:

english

File:

PDF, 682 KB

english, 2000

50

Japanese Leigh syndrome case treated with EPI-743

Kouga, Takeshi, Takagi, Mariko, Miyauchi, Akihiko, Shimbo, Hiroko, Iai, Mizue, Yamashita, Sumimasa, Murayama, Kei, Klein, Matthew B., Miller, Guy, Goto, Tomohide, Osaka, Hitoshi

Journal:

Brain and Development

Year:

2017

Language:

english

File:

PDF, 1.04 MB

english, 2017