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1

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population

Kudo, Takayuki, Ikeda, Katsuhisa, Kure, Shigeo, Matsubara, Yoichi, Oshima, Takeshi, Watanabe, Ken-ichi, Kawase, Tetsuaki, Narisawa, Kuniaki, Takasaka, Tomonori

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 189 KB

english, 2000

2

Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population

Kiyoshi Kanno, Yoichi Suzuki, Atsushi Yamada, Yoko Aoki, Shigeo Kure, Yoichi Matsubara

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 74 KB

english, 2004

3

Identification of polymorphisms in the promoter region of the human NRF2 gene

Tae Yamamoto, Keigyou Yoh, Akira Kobayashi, Yukio Ishii, Shigeo Kure, Akio Koyama, Tohru Sakamoto, Kiyohisa Sekizawa, Hozumi Motohashi, Masayuki Yamamoto

Journal:

Biochemical and Biophysical Research Communications

Year:

2004

Language:

english

File:

PDF, 545 KB

english, 2004

4

Infantile Tullio Phenomenon

Kakisaka, Yosuke, Hino-Fukuyo, Naomi, Miyazaki, Hiromitsu, Kure, Shigeo

Journal:

The Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 157 KB

english, 2013

5

Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia

Nakayama, Tojo, Sato, Yuko, Uematsu, Mitsugu, Takagi, Masatoshi, Hasegawa, Setsuko, Kumada, Satoko, Kikuchi, Atsuo, Hino-Fukuyo, Naomi, Sasahara, Yoji, Haginoya, Kazuhiro, Kure, Shigeo

Journal:

Brain and Development

Year:

2015

Language:

english

File:

PDF, 409 KB

english, 2015

6

[Current Topics in Environmental Health and Preventive Medicine] Moyamoya Disease Explored Through RNF213 ||

Koizumi, Akio, Nagata, Kazuhiro, Houkin, Kiyohiro, Tominaga, Teiji, Miyamoto, Susumu, Kure, Shigeo, Tournier-Lasserve, Elizabeth

Year:

2017

Language:

english

File:

PDF, 4.54 MB

english, 2017

7

Intra-individual cognitive imbalance in ASD between perceptual reasoning and ambiguity-solving related to tool use: Comparison among children exhibiting ASD, AD/HD, and typical development

Wakusawa, Keisuke, Nara, Chieko, Kubota, Yuki, Tomizawa, Yayoi, Taki, Yasuyuki, Sassa, Yuko, Kobayashi, Satoru, Suzuki-Muromoto, Sato, Hirose, Mieko, Yokoyama, Hiroyuki, Nara, Takahiro, Kure, Shigeo,

Journal:

Brain and Development

Year:

2017

Language:

english

File:

PDF, 984 KB

english, 2017

8

Parapharyngeal neuroglial heterotopia appearing as high uptake on 18F–FDG PET: case report and literature review of radiographical findings

Kameyama, Masayuki, Kawaguchi, Tomohiro, Niizuma, Hidetaka, Ogawa, Takenori, Watanabe, Kenichi, Hayashi, Toshiaki, Sato, Kanako, Kanamori, Masayuki, Watanabe, Mika, Katori, Yukio, Kure, Shigeo, Tomina

Journal:

Acta Neurochirurgica

Year:

2017

Language:

english

File:

PDF, 8.03 MB

english, 2017

9

Attachment Disorder and Early Media Exposure: Neurobehavioral symptoms mimicking autism spectrum disorder

Yurika, Numata‐Uematsu, Hiroyuki, Yokoyama, Hiroki, Sato, Wakaba, Endo, Mitsugu, Uematsu, Chieko, Nara, Shigeo, Kure

Journal:

The Journal of Medical Investigation

Year:

2018

Language:

english

File:

PDF, 163 KB

english, 2018

10

Frequent Clinical and Radiological Progression of Optic Pathway/Hypothalamic Pilocytic Astrocytoma in Adolescents and Young Adults

SHOJI, Takuhiro, KANAMORI, Masayuki, SAITO, Ryuta, WATANABE, Yuko, WATANABE, Mika, FUJIMURA, Miki, OGAWA, Yoshikazu, SONODA, Yukihiko, KUMABE, Toshihiro, KURE, Shigeo, TOMINAGA, Teiji

Journal:

Neurologia medico-chirurgica

Year:

2020

File:

PDF, 905 KB

2020

11

Glycogen storage disease type Ib: Structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene

Hou, Dian-Chang, Kure, Shigeo, Suzuki, Yoichi, Hasegawa, Yukihiro, Hara, Yoji, Inoue, Takehiko, Kida, Yoshikazu, Matsubara, Yoichi, Narisawa, Kuniaki

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 216 KB

english, 1999

12

Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells

Akanuma, Jun, Nishigaki, Toshinori, Fujii, Kunihiro, Matsubara, Yoichi, Inui, Koji, Takahashi, Kazutoshi, Kure, Shigeo, Suzuki, Yoichi, Ohura, Toshihiro, Miyabayashi, Shigeaki, Ogawa, Eishin, Iinuma,

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 174 KB

english, 2000

13

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia

Takahashi, Kazutoshi, Akanuma, Jun, Matsubara, Yoichi, Fujii, Kunihiro, Kure, Shigeo, Suzuki, Yoichi, Wataya, Kaoru, Sakamoto, Osamu, Aoki, Yoko, Ogasawara, Masahito, Ohura, Toshihiro, Miyabayashi, Sh

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 471 KB

english, 2000

14

Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli–Arab mutations

Shigeo Kure, Marie-Odile Rolland, Jaako Leisti, Hanna Mandel, Yoshiyuki Sakata, Keiya Tada, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 124 KB

english, 1999

15

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes

Kaoru Wataya, Jun Akanuma, Patrizia Cavadini, Yoko Aoki, Shigeo Kure, Federica Invernizzi, Ichiro Yoshida, Jun-ichi Kira, Franco Taroni, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Year:

1998

Language:

english

File:

PDF, 234 KB

english, 1998

16

Apo A-IMiyagi(947delA): A novel deletion in the apolipoprotein A-I gene associated with familial hypoalphalipoproteinemia

Shigeo Kure, Dian-Chang Hou, Michinori Sato, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Year:

1999

Language:

english

File:

PDF, 10 KB

english, 1999

17

Mutation detection by TaqMan-allele specific amplification: Application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency

Kunihiro Fujii, Yoichi Matsubara, Jun Akanuma, Kazutoshi Takahashi, Shigeo Kure, Yoichi Suzuki, Masue Imaizumi, Kazuie Iinuma, Osamu Sakatsume, Piero Rinaldo, Kuniaki Narisawa

Journal:

Year:

2000

Language:

english

File:

PDF, 271 KB

english, 2000

18

Significant association between nonsyndromic oral clefts and arylhydrocarbon receptor nuclear translocator (ARNT)

Shuji Kayano, Yoichi Suzuki, Kiyoshi Kanno, Yoko Aoki, Shigeo Kure, Atsushi Yamada, Yoichi Matsubara

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 70 KB

english, 2004

19

A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a japanese family

Kyoko Takano, Eiji Nakagawa, Ken Inoue, Fumiaki Kamada, Shigeo Kure, Yu-ichi Goto

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2008

Language:

english

File:

PDF, 184 KB

english, 2008

20

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

Shigeo Kure, Kanako Kojima, Akiko Ichinohe, Tomoki Maeda, Rozalia Kalmanchey, György Fekete, Suzan Z. Berg, Jim Filiano, Yoko Aoki, Yoichi Suzuki, Tatsuro Izumi, Yoichi Matsubara

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 327 KB

english, 2002

21

Reply

Shigeo Kure, Kanako Kojima, Akiko Ichinohe, Tomoki Maeda, Rozalia Kalmanchey, György Fekete, Suzan Z. Berg, Jim Filiano, Yoko Aoki, Yoichi Suzuki, Tatsuro Izumi, Yoichi Matsubara

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 72 KB

english, 2003

22

Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation

Stanley H. Korman, Avihu Boneh, Akiko Ichinohe, Kanako Kojima, Kenichi Sato, Zivanit Ergaz, John M. Gomori, Alisa Gutman, Shigeo Kure

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 273 KB

english, 2004

23

Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation

Stanley H. Korman, Isaiah D. Wexler, Alisa Gutman, Marie-Odile Rolland, Junko Kanno, Shigeo Kure

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 97 KB

english, 2006

24

Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test

Shigeo Kure, Stanley H. Korman, Junko Kanno, Ayumi Narisawa, Mitsuru Kubota, Toshimitsu Takayanagi, Masaki Takayanagi, Takashi Saito, Akira Matsui, Fumiaki Kamada, Yoko Aoki, Toshihiro Ohura, Yoichi M

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 194 KB

english, 2006

25

Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension

Mireia del Toro, José Antonio Arranz, Alfons Macaya, Encarnació Riudor, Miquel Raspall, Antonio Moreno, Elida Vazquez, Arancha Ortega, Yoichi Matsubara, Shigeo Kure, Manuel Roig

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 234 KB

english, 2006

26

Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip

Yoichi Matsubara, Shigeo Kure

Journal:

Year:

2003

Language:

english

File:

PDF, 328 KB

english, 2003

27

Mutations in the holocarboxylase synthetase gene HLCS

Yoichi Suzuki, Xue Yang, Yoko Aoki, Shigeo Kure, Yoichi Matsubara

Journal:

Year:

2005

Language:

english

File:

PDF, 195 KB

english, 2005

28

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

Shigeo Kure, Kumi Kato, Agirios Dinopoulos, Chuck Gail, Ton J. deGrauw, John Christodoulou, Vladimir Bzduch, Rozalia Kalmanchey, Gyorgy Fekete, Alex Trojovsky, Barbara Plecko, Galen Breningstall, Jun

Journal:

Year:

2006

Language:

english

File:

PDF, 272 KB

english, 2006

29

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

Yoko Aoki, Tetsuya Niihori, Yoko Narumi, Shigeo Kure, Yoichi Matsubara

Journal:

Year:

2008

Language:

english

File:

PDF, 272 KB

english, 2008

30

Electrophysiological and Histopathological Characteristics of Progressive Atrioventricular Block Accompanied by Familial Dilated Cardiomyopathy Caused by a Novel Mutation of Lamin A/C Gene

JUN OTOMO, SHIGEO KURE, TOMOKO SHIBA, AKIHIKO KARIBE, TSUYOSHI SHINOZAKI, TETSUO YAGI, HIROSHI NAGANUMA, FUMIAKI TEZUKA, MASAETSU MIURA, MEIICHI ITO, JUN WATANABE, YOICHI MATSUBARA, KUNIO SHIRATO

Journal:

Journal of Cardiovascular Electrophysiology

Year:

2005

Language:

english

File:

PDF, 534 KB

english, 2005

31

Pseudomotorische Kontraktionen parasympathischer Natur

Ken Kuré, Hirobumi Ohsuzu, Shigeo Okinaka

Journal:

Pflügers Archiv European Journal of Physiology

Year:

1935

Language:

german

File:

PDF, 859 KB

german, 1935

32

Studien über Schweißdrüseninnervation

Ken Kuré, Shigeo Okinaka, Shuzo Maéda, Hajime Kato

Journal:

Pflügers Archiv European Journal of Physiology

Year:

1936

Language:

german

File:

PDF, 1.21 MB

german, 1936

33

Sonderstellung des quergestreiften Oesophagusmuskels betreffs seiner Innervation

Ken Kuré, Shigeo Okinaka, Tokio Sakurai, Daigoro Kondo

Journal:

Pflügers Archiv European Journal of Physiology

Year:

1939

Language:

german

File:

PDF, 1.10 MB

german, 1939

34

Physiologischer Nachweis der spinalparasympathischen vasodilatatorischen Faser

Ken Kuré, Soroku Saitō, Shigeo Okinaka

Journal:

Pflügers Archiv European Journal of Physiology

Year:

1937

Language:

german

File:

PDF, 498 KB

german, 1937

35

Dinucleotide repeat polymorphism in 65k-glutamate decarboxylase gene

Shigeo Kure, Yoko Aoki, Toshikatsu Shinka, Yoshiyuki Sakata, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 115 KB

english, 1997

36

Nonketotic hyperglycinemia: Biochemical, molecular, and neurological aspects

Shigeo Kure, Keiya Tada, Kuniaki Narisawa

Journal:

Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 589 KB

english, 1997

37

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients

Hiroyuki Ikeda, Y. Matsubara, Hitoshi Mikami, Shigeo Kure, Misao Owada, Tamara Gough, Peter M. Smooker, Marion Dobbs, Hans-Henrik M. Dahl, Richard G. H. Cotton, Kuniaki Narisawa

Journal:

Year:

1997

Language:

english

File:

PDF, 85 KB

english, 1997

38

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency

Xue Yang, Yoko Aoki, Xue Li, Osamu Sakamoto, Masahiro Hiratsuka, Shigeo Kure, Sepidh Taheri, Ernst Christensen, Koji Inui, Mitsuru Kubota, Miki Ohira, Misao Ohki, Jun Kudoh, Kazuhiko Kawasaki, Kazunor

Journal:

Year:

2001

Language:

english

File:

PDF, 129 KB

english, 2001

39

Inherited risk factors for deep venous thrombosis following total hip arthroplasty in Japanese patients: matched control study

Yoshiro Kiyoshige, Shigeo Kure, Kaoru Goto, Masaji Ishii, Junko Kanno, Masahiro Hiratsuka

Journal:

Journal of Orthopaedic Science

Year:

2007

Language:

english

File:

PDF, 155 KB

english, 2007

40

Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion

Shuji Kayano, Shigeo Kure, Yoichi Suzuki, Kiyoshi Kanno, Yoko Aoki, Shinji Kondo, BrianC. Schutte, JeffreyC. Murray, Atsushi Yamada, Yoichi Matsubara

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.31 MB

english, 2003

41

Linkage and association of childhood asthma with the chromosome 12 genes

Chenchen Shao, Yoichi Suzuki, Fumiaki Kamada, Kiyoshi Kanno, Mayumi Tamari, Koichi Hasegawa, Yoko Aoki, Shigeo Kure, Xue Yang, Hiroko Endo, Reiko Takayanagi, Chifuyu Nakazawa, Toshio Morikawa, Miki Mo

Journal:

Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 219 KB

english, 2004

42

A single nucleotide substitution that abolishes the initiator methionine codon of theGLDCgene is prevalent among patients with glycine encephalopathy in Jerusalem

Avihu Boneh, Stanley H. Korman, Kenichi Sato, Junko Kanno, Yoichi Matsubara, Israela Lerer, Ziva Ben-Neriah, Shigeo Kure

Journal:

Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 258 KB

english, 2005

43

A novelKCNQ4one-base deletion in a large pedigree with hearing loss: implication for the genotype–phenotype correlation

Fumiaki Kamada, Shigeo Kure, Takayuki Kudo, Yoichi Suzuki, Takeshi Oshima, Akiko Ichinohe, Kanako Kojima, Tetsuya Niihori, Junko Kanno, Yoko Narumi, Ayumi Narisawa, Kumi Kato, Yoko Aoki, Katsuhisa Ike

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 242 KB

english, 2006

44

Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations inmut0patients

Hitoshi Mikami, Masahito Ogasawara, Y. Matsubara, Masahiro Kikuchi, Shigeaki Miyabayashi, Shigeo Kure, Kuniaki Narisawa

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 169 KB

english, 1999

45

Glycine cleavage system in neurogenic regions

Akiko Ichinohe, Shigeo Kure, Sumiko Mikawa, Takatoshi Ueki, Kanako Kojima, Kazuko Fujiwara, Kazuie Iinuma, Yoichi Matsubara, Kohji Sato

Journal:

European Journal of Neuroscience

Year:

2004

Language:

english

File:

PDF, 373 KB

english, 2004

46

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene

Osamu Sakamoto, Toshihiro Ohura, Kei Murayama, Akira Ohtake, Hiroko Harashima, Daiki Abukawa, Junji Takeyama, Kazuhiro Haginoya, Shigeaki Miyabayashi, Shigeo Kure

Journal:

Pediatrics International

Year:

2011

Language:

english

File:

PDF, 1003 KB

english, 2011

47

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

Ji-wen Wang, Hirokazu Kurahashi, Atsushi Ishii, Toshio Kojima, Masaharu Ohfu, Takahito Inoue, Atsushi Ogawa, Sawa Yasumoto, Hirokazu Oguni, Shigeo Kure, Tatsuya Fujii, Masatoshi Ito, Takehiko Okuno, Y

Journal:

Year:

2008

Language:

english

File:

PDF, 324 KB

english, 2008

48

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Aoki, Yoko, Niihori, Tetsuya, Kawame, Hiroshi, Kurosawa, Kenji, Ohashi, Hirofumi, Tanaka, Yukichi, Filocamo, Mirella, Kato, Kumi, Suzuki, Yoichi, Kure, Shigeo

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 239 KB

english, 2005

49

Mutation Detection of GJB2 Using IsoCode and Real-Time Quantitative Polymerase Chain Reaction With SYBR Green I Dye for Newborn Hearing Screening

Takayuki Kudo, Takeshi Oshima, Shigeo Kure, Yoichi Matsubara, Katsuhisa Ikeda

Journal:

The Laryngoscope

Year:

2004

Language:

english

File:

PDF, 583 KB

english, 2004

50

Characterization of coke deposited on catalysts by carbon K-edge near edge X-ray absorption fine structure (NEXAFS) spectroscopy

Hiromichi Shimada, Motoyasu Imamura, Nobuyuki Matsubayashi, Takeru Saito, Tomoaki Tanaka, Takashi Hayakawa, Shigeo Kure

Journal:

Topics in Catalysis

Year:

2000

Language:

english

File:

PDF, 108 KB

english, 2000