Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by MORC2 variants in Japan
Ando, M., Okamoto, Y., Yoshimura, A., Yuan, J.‐H., Hiramatsu, Y., Higuchi, Y., Hashiguchi, A., Mitsui, J., Ishiura, H., Fukumura, S., Matsushima, M., Ochi, N., Tsugawa, J., Morishita, S., Tsuji, S., Takashima, H.
Published in European journal of neurology (01.10.2017)
Published in European journal of neurology (01.10.2017)
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Journal Article
Development of an alpha-particle imaging detector based on a low radioactivity micro-time-projection chamber
Ito, H., Hashimoto, T., Miuchi, K., Kobayashi, K., Takeuchi, Y., Nakamura, K.D., Ikeda, T., Ishiura, H.
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (11.02.2020)
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (11.02.2020)
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Development of highly radiopure NaI(Tl) scintillator for PICOLON dark matter search project
Fushimi, K, Kanemitsu, Y, Hirata, S, Chernyak, D, Hazama, R, Ikeda, H, Imagawa, K, Ishiura, H, Ito, H, Kisimoto, T, Kozlov, A, Takemoto, Y, Yasuda, K, Ejiri, H, Hata, K, Iida, T, Inoue, K, Koga, M, Nakamura, K, Orito, R, Shima, T, Umehara, S, Yoshida, S
Published in Progress of theoretical and experimental physics (01.04.2021)
Published in Progress of theoretical and experimental physics (01.04.2021)
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Journal Article
Development of a negative ion micro TPC detector with SF6 gas for the directional dark matter search
Ikeda, T, Shimada, T, Ishiura, H, Nakamura, K D, Nakamura, T, Miuchi, K
Published in Journal of instrumentation (01.07.2020)
Published in Journal of instrumentation (01.07.2020)
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Journal Article
Response of anti-NMDA receptor encephalitis without tumor to immunotherapy including rituximab
Ishiura, H, Matsuda, S, Higashihara, M, Hasegawa, M, Hida, A, Hanajima, R, Yamamoto, T, Shimizu, J, Dalmau, J, Tsuji, S
Published in Neurology (02.12.2008)
Published in Neurology (02.12.2008)
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Journal Article
Results of a directional dark matter search from the NEWAGE experiment
Ikeda, T., Miuchi, K., Hashimoto, T., Ishiura, H., Nakamura, T., Shimada, T., Nakamura, K.
Published in Journal of physics. Conference series (01.02.2020)
Published in Journal of physics. Conference series (01.02.2020)
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Journal Article
Clinical and mutational spectrum of Japanese patients with Charcot‐Marie‐Tooth disease caused by GDAP1 variants
Yoshimura, A., Yuan, J.‐H., Hashiguchi, A., Hiramatsu, Y., Ando, M., Higuchi, Y., Nakamura, T., Okamoto, Y., Matsumura, K., Hamano, T., Sawaura, N., Shimatani, Y., Kumada, S., Okumura, Y., Miyahara, J., Yamaguchi, Y., Kitamura, S., Haginoya, K., Mitsui, J., Ishiura, H., Tsuji, S., Takashima, H.
Published in Clinical genetics (01.09.2017)
Published in Clinical genetics (01.09.2017)
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Journal Article
Prototype analog front-end for negative-ion gas and dual-phase liquid-Ar TPCs
Nakazawa, M., Kishishita, T., Shoji, M., Sakashita, K., Ikeda, T., Ishiura, H., Battat, J.B.R., Nicoloff, C., Tanaka, M.M., Hasegawa, T., Miuchi, K.
Published in Journal of instrumentation (01.01.2019)
Published in Journal of instrumentation (01.01.2019)
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Journal Article
Late-onset familial neuronal intranuclear inclusion disease presenting with dementia and unique MRI findings
Ohtomo, R, Mano, T, Shirota, Y, Ishiura, H, Shimizu, J, Tsuji, S, Iwata, A
Published in Journal of the neurological sciences (15.10.2013)
Published in Journal of the neurological sciences (15.10.2013)
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Journal Article
C.P.14 A four-generation Japanese family with autosomal dominant nemaline myopathy associated with dilated cardiomyopathy
Ichikawa, Y, Goto, J, Ishiura, H, Oya, Y, Kowa, H, Shimizu, J, Date, H, Tsuji, S
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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Journal Article
Rapid Prototyping of Genomic Diagnostic Platform for Clinical Decision Support
Takano, R, Miyamoto, S, Ishii, M, Ishiura, H, Tsuji, S, Ohe, K
Published in Japan Journal of Medical Informatics (09.10.2020)
Published in Japan Journal of Medical Informatics (09.10.2020)
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Journal Article
Comprehensive genetic testing for mitochondrial disorders using sanger sequencing, southern blotting, whole exome sequencing, and whole mitochondrial genome sequencing
Tanaka, M., Ishiura, H., Mitsui, J., Shimizu, J., Tsuji, S.
Published in Journal of the neurological sciences (15.10.2017)
Published in Journal of the neurological sciences (15.10.2017)
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Journal Article
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita
Published in Brain (London, England : 1878) (22.06.2021)
Published in Brain (London, England : 1878) (22.06.2021)
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Journal Article
Development of a negative ion micro TPC detector with SF 6 gas for the directional dark matter search
Ikeda, T., Shimada, T., Ishiura, H., Nakamura, K.D., Nakamura, T., Miuchi, K.
Published in Journal of instrumentation (21.07.2020)
Published in Journal of instrumentation (21.07.2020)
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Journal Article
Interpretation of sequence variants called by whole exome sequencing in the clinical sequence of muscular diseases
Sato, N., Ishiura, H., Mitsui, J., Tanaka, M., Kubota, A., Shimizu, J., Morishita, S., Tsuji, S.
Published in Journal of the neurological sciences (15.10.2017)
Published in Journal of the neurological sciences (15.10.2017)
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Journal Article
A novel missense mutation in valosin-containing protein gene identified in a Japanese family with a pure form of hereditary spastic paraplegia
Kakumoto, T., Kodama, S., Ishiura, H., Mitsui, J., Hayashi, T., Shimizu, J., Morishita, S., Tsuji, S.
Published in Journal of the neurological sciences (15.10.2017)
Published in Journal of the neurological sciences (15.10.2017)
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Journal Article
Diagnostic role of aerobic exercise tests on cycle ergometry in clinical settings
Kurihara, M., Sugiyama, Y., Tanaka, M., Ishiura, H., Kubota, A., Hayashi, T., Shimizu, J., Tsuji, S.
Published in Journal of the neurological sciences (15.10.2017)
Published in Journal of the neurological sciences (15.10.2017)
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Journal Article
Induced pluripotent stem cell-derived neuronal cells from patients with multiple system atrophy as a model for investigating the pathogenesis linked to coenzyme Q10 insufficiency
Nakamoto, F., Okamoto, S., Mitsui, J., Ishiura, H., Tsuji, S., Hideyuki, O.
Published in Journal of the neurological sciences (15.10.2017)
Published in Journal of the neurological sciences (15.10.2017)
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Journal Article