Papers - Ishiura Hiroyuki
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Keiko Hatano, Hidetoshi Date, Hiroyuki Ishiura, Takashi Matsukawa, Masaki Tanaka, Jun Mitsui, Jun Goto, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji
Neurology and Clinical Neuroscience 10 ( 4 ) 210 - 217 2022.7
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Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible. Reviewed International journal
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Fumikazu Kojima, Yutaka Noguchi, Takahiro Hobara, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Biomedicines 10 ( 7 ) 2022.6
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Hiroki Yagi, Norifumi Takeda, Eisuke Amiya, Nana Akiyama, Hyangri Chang, Hiroyuki Ishiura, Jiro Sato, Hiroshi Akazawa, Hiroyuki Morita, Issei Komuro
American Journal of Medical Genetics Part A 2022.5
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<scp>TDP</scp> ‐43 Proteinopathy Presenting with Typical Symptoms of Parkinson's Disease Reviewed
Rika Yamashita, Goichi Beck, Yuki Yonenobu, Kimiko Inoue, Akihiko Mitsutake, Hiroyuki Ishiura, Masato Hasegawa, Shigeo Murayama, Hideki Mochizuki
Movement Disorders 2022.5
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Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan. Reviewed International journal
Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Ruriko Kitao, Takehiko Morimoto, Takaki Taniguchi, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Annals of clinical and translational neurology 9 ( 5 ) 747 - 755 2022.5
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Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation. Reviewed International journal
Takahiro Itamiya, Toshihiko Komai, Hiroko Kanda, Yasuo Nagafuchi, Hyangri Chang, Shota Shibata, Hiroyuki Ishiura, Hirofumi Shoda, Tatsushi Toda, Keishi Fujio
Clinical rheumatology 2022.3
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Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes. Reviewed International journal
Yu Hiramatsu, Yuji Okamoto, Akiko Yoshimura, Jun-Hui Yuan, Masahiro Ando, Yujiro Higuchi, Akihiro Hashiguchi, Eiji Matsuura, Fumihito Nozaki, Tomohiro Kumada, Kei Murayama, Mikiya Suzuki, Yuki Yamamoto, Naoko Matsui, Yoshimichi Miyazaki, Masamitsu Yamaguchi, Youji Suzuki, Jun Mitsui, Hiroyuki Ishiura, Masaki Tanaka, Shinichi Morishita, Ichizo Nishino, Shoji Tsuji, Hiroshi Takashima
Journal of neurology 269 ( 8 ) 4129 - 4140 2022.3
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Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis. Reviewed International journal
Chiseko Ikenaga, Hidetoshi Date, Motoi Kanagawa, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Iago Pinal-Fernandez, Andrew L Mammen, Thomas E Lloyd, Shoji Tsuji, Jun Shimizu, Tatsushi Toda, Jun Goto
Annals of neurology 91 ( 3 ) 317 - 328 2022.3
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Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene. Reviewed International journal
Hiroki Yagi, Hiroshi Takiguchi, Norifumi Takeda, Ryo Inuzuka, Yuki Taniguchi, Kristine Joyce Porto, Hiroyuki Ishiura, Jun Mitsui, Hiroyuki Morita, Issei Komuro
Clinical case reports 10 ( 2 ) e05335 2022.2
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An immigrant family with Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex. Reviewed International journal
Yasumasa Kokubo, Satoru Morimoto, Ryogen Sasaki, Masato Hasegawa, Hiroyuki Ishiura, Shoji Tsuji, Mari Yoshida, Naohisa Yamazoe, Mitsukazu Miyazaki, Shigeki Kuzuhara
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 43 ( 2 ) 1423 - 1425 2022.2
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An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families. Reviewed International journal
Masahiro Ando, Yujiro Higuchi, Yuji Okamoto, Junhui Yuan, Akiko Yoshimura, Jun Takei, Takaki Taniguchi, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Hiroto Nakagawa, Ken Sonoda, Toru Yamashita, Akiko Tamura, Hideo Terasawa, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Journal of human genetics 67 ( 7 ) 399 - 403 2022.1
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Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments. Reviewed International journal
Takaki Taniguchi, Masahiro Ando, Yuji Okamoto, Akiko Yoshimura, Yujiro Higuchi, Akihiro Hashiguchi, Nozomu Matsuda, Mamoru Yamamoto, Eisuke Dohi, Makoto Takahashi, Masanao Yoshino, Taichi Nomura, Masaaki Matsushima, Ichiro Yabe, Yui Sanpei, Hiroyuki Ishiura, Jun Mitsui, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima
Journal of human genetics 67 ( 6 ) 353 - 362 2022.1
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Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy. Reviewed International journal
Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Eiji Matsuura, Akihiro Hashiguchi, Akiko Yoshimura, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Frontiers in neurology 13 986504 - 986504 2022
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DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism. Reviewed International journal
Akatsuki Kubota, Hiroyuki Ishiura, Kristine Joyce Linay Porto, Masaki Tanaka, Jun Mitsui, Atsushi Unuma, Hisataka Maki, Issei Komuro, Shoji Tsuji, Jun Shimizu, Tatsushi Toda
Neuromuscular disorders : NMD 32 ( 3 ) 263 - 269 2021.12
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Randomized, double-blind, placebo-controlled phase 1 study to evaluate the safety and pharmacokinetics of high doses of ubiquinol in healthy adults Reviewed
Jun Mitsui, Takashi Matsukawa, Masaki Tanaka, Naoko Saito-Sato, Fumiko Kusunoki Nakamoto, Tsutomu Yasuda, Hiroya Naruse, Miho Kawabe Matsukawa, Hiroyuki Ishiura, Midori Nagase, Yorihiro Yamamoto, Haruko Kuzuyama, Ikue Wada, Toshio Ga, Tsutomu Yamazaki, Takashi Moritoyo, Shoji Tsuji
NEUROLOGY AND CLINICAL NEUROSCIENCE 2021.12
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Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population. Reviewed International journal
Asem Almansour, Hiroyuki Ishiura, Jun Mitsui, Takashi Matsukawa, Miho Kawabe Matsukawa, Hideaki Shimizu, Atsuhiko Sugiyama, Tatsushi Toda, Shoji Tsuji
Cerebellum (London, England) 2021.11
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Diagnostic Values of Venous Peak Lactate, Lactate-to-pyruvate Ratio, and fold Increase in Lactate from Baseline in Aerobic Exercise Tests in Patients with Mitochondrial Diseases.
Masanori Kurihara, Yusuke Sugiyama, Masaki Tanaka, Kenichiro Sato, Akihiko Mitsutake, Hiroyuki Ishiura, Akatsuki Kubota, Kaori Sakuishi, Toshihiro Hayashi, Atsushi Iwata, Jun Shimizu, Kei Murayama, Shoji Tsuji, Tatsushi Toda
Internal medicine (Tokyo, Japan) 61 ( 13 ) 1939 - 1946 2021.11
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COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population. International journal
Kristine Joyce Porto, Makito Hirano, Jun Mitsui, Ayaka Chikada, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda, Susumu Kusunoki, Shoji Tsuji
Journal of the neurological sciences 429 117623 - 117623 2021.10
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Akihiko Mitsutake, Atsushi Unuma, Mizuho Kawai, Akatsuki Kubota, Hiroyuki Ishiura, Kaori Sakuishi, Jun Shimizu, Hisataka Maki, Eisuke Amiya, Masaru Hatano, Issei Komuro, Shoji Tsuji, Tatsushi Toda
Neurology and Clinical Neuroscience 9 ( 6 ) 490 - 493 2021.10
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Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies. International journal
Norifumi Takeda, Ryo Inuzuka, Hiroki Yagi, Hiroyuki Morita, Masahiko Ando, Haruo Yamauchi, Yuki Taniguchi, Kristine Joyce Porto, Tsubasa Kanaya, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Tatsushi Toda, Minoru Ono, Issei Komuro
Circulation. Genomic and precision medicine 14 ( 4 ) CIRCGEN121003458 2021.7