Papers - Ishiura Hiroyuki
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. International journal
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M Santorelli, Ahmed A Alfares, Changlian Zhu, Anna Uhrova Meszarosova, Elham Alehabib, Somayeh Bakhtiari, Andreas R Janecke, Maria Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P van de Warrenburg, Ruben Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilguvar, Sherifa Hamed, Mohammed Abdelhameed, Nourelhoda A Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair Pagnamenta, Nick W Wood, Frederic Tran Mau-Them, Tobias Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary J H Willis, Katheryn Grand, John M Graham, Richard A Lewis, Francisca Millan, Özgür Duman, Nihal Dündar, Gökhan Uyanik, Ludger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Catala Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean-Jacques Medard, Roman Chrast, Michaela Auer-Grumbach, Fowzan S Alkuraya, Hanan Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horvath, Henry Houlden, Luca Bartesaghi, Hwei-Jen Lee, Konstantinos Ampatzis, Tyler Mark Pierson, Jan Senderek
Brain : a journal of neurology 2021.5
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脳神経内科医を対象とした遺伝カウンセリング・ロールプレイの試み
竹内 千仙, 神原 容子, 西郷 和真, 矢部 一郎, 石浦 浩之, 松川 敬志, 池川 敦子, 柴田 有花, 張 香理, 吉田 邦広
日本遺伝カウンセリング学会誌 42 ( 1 ) 143 - 152 2021.5
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Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review. International journal
Yuka Shibata, Masaaki Matsushima, Takashi Matsukawa, Hiroyuki Ishiura, Shoji Tsuji, Ichiro Yabe
Journal of human genetics 66 ( 5 ) 535 - 537 2021.5
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Reliability and validity of Japanese version of Unified Multiple System Atrophy Rating Scale
Ayaka Chikada, Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda, Katsuhisa Ogata, Jun Goto, Gregor K. Wenning, Shoji Tsuji
Neurology and Clinical Neuroscience 9 ( 2 ) 171 - 180 2021.3
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Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan. International journal
Takaki Taniguchi, Masahiro Ando, Yuji Okamoto, Akiko Yoshimura, Yujiro Higuchi, Akihiro Hashiguchi, Kensuke Shiga, Arisa Hayashida, Taku Hatano, Hiroyuki Ishiura, Jun Mitsui, Nobutaka Hattori, Toshiki Mizuno, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima
Clinical genetics 99 ( 3 ) 359 - 375 2021.3
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Voriconazoleによる治療により症状が改善した侵襲性アスペルギルス症による眼窩尖端症候群の1例
岩崎 奏子, 横山 敬士, 勝瀬 一登, 角元 利行, 岡本 耕, 篠原 孝幸, 鴨頭 輝, 宮崎 義継, 石浦 浩之, 戸田 達史
日本内科学会関東地方会 666回 42 - 42 2021.2
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Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders. International journal
Wai Yan Yau, Jana Vandrovcova, Roisin Sullivan, Zhongbo Chen, Anna Zecchinelli, Roberto Cilia, Stefano Duga, Malgorzata Murray, Susana Carmona, Viorica Chelban, Hiroyuki Ishiura, Shoji Tsuji, Zane Jaunmuktane, Chris Turner, Nicholas W Wood, Henry Houlden
Movement disorders : official journal of the Movement Disorder Society 36 ( 1 ) 251 - 255 2021.1
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Cranial Nerve Involvement and Dysautonomia in Post-COVID-19 Guillain-Barré Syndrome
Toshiyuki Kakumoto, Satoshi Kobayashi, Hayato Yuuki, Mitsuhiro Kainaga, Yuichiro Shirota, Masashi Hamada, Meiko Hashimoto Maeda, Akatsuki Kubota, Mizuho Kawai, Masaaki Saito, Hiroyuki Ishiura, Tatsushi Toda
Internal Medicine 60 ( 21 ) 3477 - 3480 2021
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Chédiak–Higashi syndrome presenting as a hereditary spastic paraplegia
Kishin Koh, Mai Tsuchiya, Hiroyuki Ishiura, Haruo Shimazaki, Takeshi Nakamura, Hideo Hara, Kohei Suzuyama, Makio Takahashi, Shoji Tsuji, Yoshihisa Takiyama, Japan Spastic Paraplegia Research Consortium
Journal of Human Genetics 2021
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Familial dementia with Lewy bodies with VPS13C mutations. International journal
Ryota Kobayashi, Hiroya Naruse, Shingo Koyama, Shinobu Kawakatsu, Hiroshi Hayashi, Hiroyuki Ishiura, Jun Mitsui, Yasuyuki Ohta, Tatsushi Toda, Shoji Tsuji, Koichi Otani
Parkinsonism & related disorders 81 31 - 33 2020.12
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A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis. Reviewed International journal
Akihiko Mitsutake, Takashi Matsukawa, Kristine Joyce L Porto, Tatsuya Sato, Junko Katsumata, Tomonari Seki, Risa Maekawa, Takuto Hideyama, Masaki Tanaka, Hiroyuki Ishiura, Tatsushi Toda, Shoji Tsuji, Yasushi Shiio
Journal of the neurological sciences 418 117091 - 117091 2020.11
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Kristine Joyce L. Porto, Jun Mitsui, Hiroyuki Ishiura, Akatsuki Kubota, Kathleen Jaye L. Luspian, Emmanuel Eduardo, Ludwig Damian, Tatsushi Toda, Shoji Tsuji
Neurology and Clinical Neuroscience 8 ( 6 ) 419 - 421 2020.11
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Novel variant of CSF1R in sporadic case with early‐onset cognitive impairment
Takashi Matsukawa, Hiroshi Shoji, Yasutaka Urasaki, Hiroyuki Ishiura, Jun Mitsui, Shuichi Oguri, Shoji Tsuji, Tatsushi Toda
Neurology and Clinical Neuroscience 8 ( 6 ) 430 - 432 2020.11
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A Japanese family of primary familial brain calcification with paroxysmal kinesigenic dyskinesia(和訳中)
Mitsutake Akihiko, Matsukawa Takashi, Sato Tatsuya, Katsumata Junko, Seki Tomonari, Maekawa Risa, Hideyama Takuto, Tanaka Masaki, Ishiura Hiroyuki, Toda Tatsushi, Tsuji Shoji, Shiio Yasushi
臨床神経学 60 ( Suppl. ) S315 - S315 2020.11
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Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance. International journal
Jun Hosoe, Fuyuki Miya, Hiroko Kadowaki, Toyofumi Fujiwara, Ken Suzuki, Takashi Kato, Hironori Waki, Takayoshi Sasako, Katsuya Aizu, Natsumi Yamamura, Fusako Sasaki, Makoto Kurano, Kazuo Hara, Masaki Tanaka, Hiroyuki Ishiura, Shoji Tsuji, Kenjiro Honda, Jun Yoshimura, Shinichi Morishita, Fumiko Matsuzawa, Sei-Ichi Aikawa, Keith A Boroevich, Masaomi Nangaku, Yukinori Okada, Tatsuhiko Tsunoda, Nobuhiro Shojima, Toshimasa Yamauchi, Takashi Kadowaki
Diabetes research and clinical practice 169 108461 - 108461 2020.11
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Rapid Prototyping of Genomic Diagnostic Platform for Clinical Decision Support Reviewed
Takano R, Miyamoto S, Ishii M, Ishiura H, Tsuji S, Ohe K
An Official Journal of the Japan Association for Medical Informatics 40 ( 2 ) 83 - 95 2020.10
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Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia. International journal
Yasuko Odake, Kishin Koh, Yoshihisa Takiyama, Hiroyuki Ishiura, Shoji Tsuji, Masahito Yamada, Mitsuhiro Yoshita
Neurology. Genetics 6 ( 5 ) e514 2020.10
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Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene
Natsuko Nakamura, Kazushige Tsunoda, Akihiko Mitsutake, Shota Shibata, Tatsuo Mano, Yu Nagashima, Hiroyuki Ishiura, Atsushi Iwata, Tatsushi Toda, Shoji Tsuji, Hiromasa Sawamura
Investigative ophthalmology & visual science 61 ( 11 ) 27 2020.9
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A novel mutation in ABCD1 gene in a Filipino patient with adult‐onset X‐linked ALD
Kristine Joyce Porto, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui, Alexandria Matic, Justine Megan Yu, Jacqueline Dominguez, Ludwig Damian, Tatsushi Toda, Shoji Tsuji
Neurology and Clinical Neuroscience 8 ( 5 ) 329 - 331 2020.9
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Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis. Reviewed International journal
Hiroki Hongo, Satoru Miyawaki, Hideaki Imai, Masahiro Shimizu, Shinichi Yagi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Wei Qu, Yu Teranishi, Atsushi Okano, Hideaki Ono, Hirofumi Nakatomi, Tsuneo Shimizu, Shinichi Morishita, Shoji Tsuji, Nobuhito Saito
Scientific reports 10 ( 1 ) 11942 - 11942 2020.7