NISHINO, Ichizo : rechercher sur Z-Library

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1

A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment

Kawarai, Toshitaka, Yamazaki, Hiroki, Yamakami, Kei, Tsukamoto-Miyashiro, Ai, Kodama, Mizuki, Rumore, Roberto, Caltagirone, Carlo, Nishino, Ichizo, Orlacchio, Antonio

Journal:

Journal of the Neurological Sciences

Année:

2020

Langue:

english

Fichier:

PDF, 1.98 MB

english, 2020

2

The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)

Ichizo Nishino, Mikio Komatsu, Soichi Kodama, Satoshi Horai, Ikuya Nonaka, Yu-Ichi Goto

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 248 KB

english, 1996

3

Myoclonus epilepsy associated with ragged-red fibers: A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families

Matsuko Ozawa, Ichizo Nishino, Satoshi Horai, Ikuya Nonaka, Yu-Ichi Goto

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 547 KB

english, 1997

4

A new congenital muscular dystrophy with mitochondrial structural abnormalities

Ichizo Nishino, Osamu Kobayashi, Yu-ichi Goto, Mana Kurihara, Komei Kumagai, Takehisa Fujita, Kiyoshi Hashimoto, Satoshi Horai, Ikuya Nonaka

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 625 KB

english, 1998

5

Mitochondrial abnormalities in selenium-deficient myopathy

Yasushi Osaki, Ichizo Nishino, Nobuyuki Murakami, Kozo Matsubayashi, Keisuke Tsuda, Yu-Ichi Yokoyama, Masanori Morita, Saburo Onishi, Yu-Ichi Goto, Ikuya Nonaka

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 284 KB

english, 1998

6

Negative result in search for human alpha-dystrobrevin deficiency

Harumi Ishikawa, Ikuya Nonaka, Ichizo Nishino

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 110 KB

english, 2003

7

A new form of muscular dystrophy with mitochondrial structural abnormalities

Kaori Ikemoto-Tsuchiya, Ichizo Nishino, Motoharu Kawai, Mitsunori Morimatsu, Ikuya Nonaka

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 144 KB

english, 2001

8

Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease

Andoni Echaniz-Laguna, Michel Mohr, Eric Epailly, Ichizo Nishino, Philippe Charron, Pascale Richard, Christophe Guiraud-Chaumeil, Christine Tranchant

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 219 KB

english, 2006

9

Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand

Teerin Liewluck, Theeraphong Pho-Iam, Chanin Limwongse, Wanna Thongnoppakhun, Kanokwan Boonyapisit, Natte Raksadawan, Kumiko Murayama, Yukiko K. Hayashi, Ichizo Nishino, Tumtip Sangruchi

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 184 KB

english, 2006

10

Unfolded protein response and aggresome formation in hereditary reducing-body myopathy

Teerin Liewluck, Yukiko K. Hayashi, Maki Ohsawa, Rumi Kurokawa, Masako Fujita, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 210 KB

english, 2007

11

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes

Genri Kawahara, Megumu Ogawa, Mari Okada, May Christine V. Malicdan, Yu-Ichi Goto, Yukiko K. Hayashi, Satoru Noguchi, Ichizo Nishino

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 142 KB

english, 2008

12

Clinical and genetic analysis of lipid storage myopathies

Aya Ohkuma, Satoru Noguchi, Hideo Sugie, May Christine V. Malicdan, Tokiko Fukuda, Kunio Shimazu, Luis Carlos López, Michio Hirano, Yukiko K. Hayashi, Ikuya Nonaka, Ichizo Nishino

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 607 KB

english, 2009

13

A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with danon disease

Hunmin Kim, Anna Cho, Byung Chan Lim, Min Jung Kim, Ki Joong Kim, Ichizo Nishino, Yong Seung Hwang, Jong-Hee Chae

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 252 KB

english, 2010

14

Rippling is not always electrically silent in rippling muscle disease

Takakuni Maki, Riki Matsumoto, Nobuo Kohara, Takayuki Kondo, Insuk Son, Takahiro Mezaki, Ichizo Nishino, Akio Ikeda, Ryosuke Takahashi

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 751 KB

english, 2011

15

Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy

Shinya Sato, Takekazu Ohi, Ichizo Nishino, Hideo Sugie

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 1.62 MB

english, 2012

16

Lipid Storage Myopathy

Wen-Chen Liang, Ichizo Nishino

Journal:

Current Neurology and Neuroscience Reports

Année:

2011

Langue:

english

Fichier:

PDF, 155 KB

english, 2011

17

Familial reducing body myopathy

Maki Ohsawa, Teerin Liewluck, Katuhisa Ogata, Takahiro Iizuka, Yukiko Hayashi, Ikuya Nonaka, Masayuki Sasaki, Ichizo Nishino

Journal:

Brain and Development

Année:

2007

Langue:

english

Fichier:

PDF, 813 KB

english, 2007

18

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I

Yi-Ching Lin, Terumi Murakami, Yukiko K. Hayashi, Ichizo Nishino, Ikuya Nonaka, Chung-Yee Yuo, Yuh-Jyh Jong

Journal:

Brain and Development

Année:

2007

Langue:

english

Fichier:

PDF, 890 KB

english, 2007

19

Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders

Masakazu Mimaki, Hideyuki Hatakeyama, Takashi Ichiyama, Hiroshi Isumi, Susumu Furukawa, Manami Akasaka, Atsushi Kamei, Hirofumi Komaki, Ichizo Nishino, Ikuya Nonaka, Yu-ichi Goto

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 1.16 MB

english, 2009

20

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands

Guglielmina Pepe, Enrico Bertini, Paolo Bonaldo, Kate Bushby, Betti Giusti, Marianne de Visser, Pascale Guicheney, Giovanna Lattanzi, Luciano Merlini, Francesco Muntoni, Ichizo Nishino, Ikuya Nonaka,

Journal:

Neuromuscular Disorders

Année:

2002

Langue:

english

Fichier:

PDF, 109 KB

english, 2002

21

Establishment of an Improved Mouse Model for Infantile Neuroaxonal Dystrophy That Shows Early Disease Onset and Bears a Point Mutation in Pla2g6

Haruka Wada, Takuwa Yasuda, Ikuo Miura, Kazuhiko Watabe, Chika Sawa, Hajime Kamijuku, Satoshi Kojo, Masaru Taniguchi, Ichizo Nishino, Shigeharu Wakana, Hisahiro Yoshida, Ken-ichiro Seino

Journal:

The American Journal of Pathology

Année:

2009

Langue:

english

Fichier:

PDF, 1.74 MB

english, 2009

22

Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances

Yoko Sangatsuda, Masayuki Nakamura, Akiyuki Tomiyasu, Akiko Deguchi, Yasutaka Toyota, Yu-ichi Goto, Ichizo Nishino, Shu-ichi Ueno, Akira Sano

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 717 KB

english, 2012

23

Limb-girdle muscular dystrophy type 2I is not rare in Taiwan

Liang, Wen-Chen, Hayashi, Yukiko K., Ogawa, Megumu, Wang, Chien-Hua, Huang, Wan-Ting, Nishino, Ichizo, Jong, Yuh-Jyh

Journal:

Neuromuscular Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 1.24 MB

english, 2013

24

Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan

Wang, Chien-Hua, Liang, Wen-Chen, Minami, Narihiro, Nishino, Ichizo, Jong, Yuh-Jyh

Journal:

Pediatrics & Neonatology

Année:

2015

Langue:

english

Fichier:

PDF, 794 KB

english, 2015

25

A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles

Fujii, Takayuki, Hayashi, Shintaro, Kawamura, Nobutoshi, Higuchi, Masa-aki, Tsugawa, Jun, Ohyagi, Yasumasa, Hayashi, Yukiko K., Nishino, Ichizo, Kira, Jun-ichi

Journal:

Journal of the Neurological Sciences

Année:

2014

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2014

26

A nationwide survey on Marinesco-Sjögren syndrome in Japan

Goto, Masahide, Okada, Mari, Komaki, Hirofumi, Sugai, Kenji, Sasaki, Masayuki, Noguchi, Satoru, Nonaka, Ikuya, Nishino, Ichizo, Hayashi, Yukiko K

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 229 KB

english, 2014

27

The muscle findings in a pediatric patient with live attenuated oral polio vaccine-related flaccid monoplegia

Uchiyama, Shin-ichi, Nishino, Ichizo, Izumi, Tatsuro

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 792 KB

english, 2014

28

A primigravida with very-long-chain acyl-CoA dehydrogenase deficiency

Murata, Ken-ya, Sugie, Hideo, Nishino, Ichizo, Kondo, Tomoyoshi, Ito, Hidefumi

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 47 KB

english, 2014

29

Nationwide patient registry for GNE myopathy in Japan

Mori-Yoshimura, Madoka, Hayashi, Yukiko K, Yonemoto, Naohiro, Nakamura, Harumasa, Murata, Miho, Takeda, Shin’ichi, Nishino, Ichizo, Kimura, En

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 988 KB

english, 2014

30

Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β

Mitsuhashi, Satomi, Nishino, Ichizo

Journal:

Current Opinion in Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 489 KB

english, 2013

31

Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients

Suzuki, Shigeaki, Nishikawa, Atsuko, Kuwana, Masataka, Nishimura, Hiroaki, Watanabe, Yurika, Nakahara, Jin, Hayashi, Yukiko K., Suzuki, Norihiro, Nishino, Ichizo

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 853 KB

english, 2015

32

A 31-Year-Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency

Uruha, Akinori, Hayashi, Yukiko K., Mori-Yoshimura, Madoka, Oya, Yasushi, Kanai, Masahiro, Murata, Miho, Nishino, Ichizo

Journal:

Brain Pathology

Année:

2018

Langue:

english

Fichier:

PDF, 127 KB

english, 2018

33

A 62-Year-Old Woman with A History of Muscle Pain and Skin Rash for 1 Month

Tanboon, Jantima, Uruha, Akinori, Hamanaka, Kohei, Hasegawa, Juri, Nishino, Ichizo

Journal:

Brain Pathology

Année:

2018

Langue:

english

Fichier:

PDF, 234 KB

english, 2018

34

Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN

Ishiyama, Akihiko, Kimura, Yukio, Iida, Aritoshi, Saito, Yoshihiko, Miyamoto, Yusaku, Okada, Mari, Sato, Noriko, Nishino, Ichizo, Sasaki, Masayuki

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 258 KB

english, 2018

35

Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes

Mukai, Masako, Nagata, Eiichiro, Mizuma, Atsushi, Yamano, Mitsuhiko, Sugaya, Keizo, Nishino, Ichizo, Goto, Yu-ichi, Takizawa, Shunya

Journal:

Internal Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 1.58 MB

english, 2017

36

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Okubo, Mariko, Goto, Kanako, Komaki, Hirofumi, Nakamura, Harumasa, Mori-Yoshimura, Madoka, Hayashi, Yukiko K., Mitsuhashi, Satomi, Noguchi, Satoru, Kimura, En, Nishino, Ichizo

Journal:

Orphanet Journal of Rare Diseases

Année:

2017

Langue:

english

Fichier:

PDF, 785 KB

english, 2017

37

GNE myopathy in Chinese population: hotspot and novel mutations

Chen, Yang, Xi, Jianying, Zhu, Wenhua, Lin, Jie, Luo, Sushan, Yue, Dongyue, Cai, Shuang, Sun, Chong, Zhao, Chongbo, Mitsuhashi, Satomi, Nishino, Ichizo, Xu, Minjie, Lu, Jiahong

Journal:

Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 551 KB

english, 2018

38

Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome

Ozawa, Kenji, Mochizuki, Kiyofumi, Manabe, Yusuke, Yoshikura, Nobuaki, Shimohata, Takayoshi, Nishino, Ichizo, Goto, Yu-ichi

Journal:

Documenta Ophthalmologica

Année:

2019

Langue:

english

Fichier:

PDF, 779 KB

english, 2019

39

A male patient with adult-onset sporadic calpainopathy presenting with hypertrophy of the upper extremities; 上肢の筋肥大を呈した成人発症calpainopathyの孤発男性例;

Hamaguchi, Mai, Fujita, Hiroaki, Suzuki, Keisuke, Nakamura, Toshiki, Nishino, Ichizo, Hirata, Koichi

Journal:

Rinsho Shinkeigaku

Année:

2019

Fichier:

PDF, 5.22 MB

2019

40

Secondary cardiac involvement in anti-SRP-antibody-positive myopathy: an 87-year-old woman with heart failure symptoms as the first clinical presentation

Hara, Arika, Amano, Ryota, Yokote, Hiroaki, Ijima, Masahide, Zeniya, Satoshi, Uchihara, Toshiki, Yada, Sawako, Masumura, Mayumi, Takei, Hidenobu, Nishino, Ichizo, Toru, Shuta

Journal:

Année:

2020

Langue:

english

Fichier:

PDF, 1.61 MB

english, 2020

41

Late-onset MELAS syndrome with mtDNA 14453GâA mutation masquerading as an acute encephalitis: a case report

Yokota, Yuki, Hara, Makoto, Akimoto, Takayoshi, Mizoguchi, Tomotaka, Goto, Yu-ichi, Nishino, Ichizo, Kamei, Satoshi, Nakajima, Hideto

Journal:

Année:

2020

Fichier:

PDF, 2.83 MB

2020

42

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy

Liang, Wen-Chen, Jong, Yuh-Jyh, Wang, Chien-Hua, Wang, Chen-Hua, Tian, Xia, Chen, Wan-Zi, Kan, Tzu-Min, Minami, Narihiro, Nishino, Ichizo, Wong, Lee-Jun C.

Journal:

Orphanet Journal of Rare Diseases

Année:

2020

Fichier:

PDF, 2.02 MB

2020

43

Where are we moving in the classification of idiopathic inflammatory myopathies?

Tanboon, Jantima, Uruha, Akinori, Stenzel, Werner, Nishino, Ichizo

Journal:

Current Opinion in Neurology

Année:

2020

Fichier:

PDF, 947 KB

2020

44

Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan

Yoshioka, Wakako, Miyasaka, Naoyuki, Okubo, Ryo, Shimizu, Reiko, Takahashi, Yuji, Oda, Yuriko, Nishino, Ichizo, Nakamura, Harumasa, Mori-Yoshimura, Madoka

Journal:

Orphanet Journal of Rare Diseases

Année:

2020

Fichier:

PDF, 731 KB

2020

45

Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy

Makoto Ikezawa, Ichizo Nishino, Yu-ichi Goto, Teruhisa Miike, Ikuya Nonaka

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 25 KB

english, 1999

46

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

Torbjoern G. Nygaard, Deborah Raymond, Caiping Chen, Ichizo Nishino, Paul E. Greene, Danna Jennings, Gary A. Heiman, Christine Klein, Rachel J. Saunders-Pullman, Patricia Kramer, Laurie J. Ozelius, Su

Journal:

Annals of Neurology

Année:

1999

Langue:

english

Fichier:

PDF, 7.70 MB

english, 1999

47

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

Ichizo Nishino, Antonella Spinazzola, Alexandros Papadimitriou, Simon Hammans, Israel Steiner, Cecil D. Hahn, Anne M. Connolly, Alain Verloes, João Guimarães, Ivan Maillard, Hitoshi Hamano, M. Alice D

Journal:

Annals of Neurology

Année:

2000

Langue:

english

Fichier:

PDF, 748 KB

english, 2000

48

Homozygous female Becker muscular dystrophy

Katsunori Fujii, Narihiro Minami, Yukiko Hayashi, Ichizo Nishino, Ikuya Nonaka, Yuzo Tanabe, Jun-ichi Takanashi, Yoichi Kohno

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 150 KB

english, 2009

49

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)

Maki Takahashi, Ayaka Yamamoto, Kyoko Takano, Akira Sudo, Takahito Wada, Yu-Ichi Goto, Ichizo Nishino, Shinji Saitoh

Journal:

Annals of Neurology

Année:

2002

Langue:

english

Fichier:

PDF, 2.95 MB

english, 2002

50

Actin mutations are one cause of congenital fibre type disproportion

Nigel G. Laing, Nigel F. Clarke, Danielle E. Dye, Khema Liyanage, Kendall R. Walker, Yasuaki Kobayashi, Shuichi Shimakawa, Tohru Hagiwara, Robert Ouvrier, John C. Sparrow, Ichizo Nishino, Kathryn N. N

Journal:

Annals of Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 575 KB

english, 2004