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Hiroyuki Ishiura
Hiroyuki Ishiura
Department of Neurology, The University of Tokyo
Dirección de correo verificada de umin.org
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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ...
The Lancet Neurology 11 (4), 323-330, 2012
12852012
Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial
K Abe, M Aoki, S Tsuji, Y Itoyama, G Sobue, M Togo, C Hamada, ...
The Lancet Neurology 16 (7), 505-512, 2017
6652017
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
H Ishiura, S Shibata, J Yoshimura, Y Suzuki, W Qu, K Doi, MA Almansour, ...
Nature genetics 51 (8), 1222-1232, 2019
2962019
Human genetic variation database, a reference database of genetic variations in the Japanese population
K Higasa, N Miyake, J Yoshimura, K Okamura, T Niihori, H Saitsu, ...
Journal of human genetics 61 (6), 547-553, 2016
2892016
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
H Ishiura, K Doi, J Mitsui, J Yoshimura, MK Matsukawa, A Fujiyama, ...
Nature genetics 50 (4), 581-590, 2018
2852018
Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy
Multiple-System Atrophy Research Collaboration
New England Journal of Medicine 369 (3), 233-244, 2013
2542013
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
KL Williams, S Topp, S Yang, B Smith, JA Fifita, ST Warraich, KY Zhang, ...
Nature communications 7 (1), 11253, 2016
2162016
Response of anti-NMDA receptor encephalitis without tumor to immunotherapy including rituximab
H Ishiura, S Matsuda, M Higashihara, M Hasegawa, A Hida, R Hanajima, ...
Neurology 71 (23), 1921-1923, 2008
1952008
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12
G Montenegro, AP Rebelo, J Connell, R Allison, C Babalini, M D’Aloia, ...
The Journal of clinical investigation 122 (2), 538-544, 2012
1852012
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19
Y Takahashi, Y Fukuda, J Yoshimura, A Toyoda, K Kurppa, H Moritoyo, ...
The American Journal of Human Genetics 93 (5), 900-905, 2013
1672013
Dominant mutations in RP1L1 are responsible for occult macular dystrophy
M Akahori, K Tsunoda, Y Miyake, Y Fukuda, H Ishiura, S Tsuji, T Usui, ...
The American Journal of Human Genetics 87 (3), 424-429, 2010
1302010
Variants associated with Gaucher disease in multiple system atrophy
J Mitsui, T Matsukawa, H Sasaki, I Yabe, M Matsushima, A Dürr, A Brice, ...
Annals of clinical and translational neurology 2 (4), 417-426, 2015
1252015
C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan
H Ishiura, Y Takahashi, J Mitsui, S Yoshida, T Kihira, Y Kokubo, ...
Archives of neurology 69 (9), 1154-1158, 2012
1232012
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ...
Nature communications 10 (1), 4920, 2019
1212019
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement
H Ishiura, W Sako, M Yoshida, T Kawarai, O Tanabe, J Goto, Y Takahashi, ...
The American Journal of Human Genetics 91 (2), 320-329, 2012
1192012
Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2
Y Higuchi, A Hashiguchi, J Yuan, A Yoshimura, J Mitsui, H Ishiura, ...
Annals of neurology 79 (4), 659-672, 2016
1002016
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12
G Landouré, PP Zhu, CM Lourenço, JO Johnson, C Toro, KV Bricceno, ...
Human mutation 34 (10), 1357-1360, 2013
982013
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients
A Ishii, Y Saito, J Mitsui, H Ishiura, J Yoshimura, H Arai, S Yamashita, ...
PloS one 8 (2), e56120, 2013
952013
Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1
Z Cen, Z Jiang, Y Chen, X Zheng, F Xie, X Yang, X Lu, Z Ouyang, H Wu, ...
Brain 141 (8), 2280-2288, 2018
892018
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
H Shimazaki, Y Takiyama, H Ishiura, C Sakai, Y Matsushima, ...
Journal of medical genetics 49 (12), 777-784, 2012
862012
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20