Department of Personalized Genomic Medicine for Health

56  articles.  
* There may be some overlapped articles listed due to the difference of format.

  1. Chikada Ayaka, Orimo Kenta, Mitsui Jun, Matsukawa Takashi, Ishiura Hiroyuki, Toda Tatsushi, Mizusawa Hidehiro, Takahashi Yuji, Katsuno Masahisa, Hara Kazuhiro, Onodera Osamu, Ishihara Tomohiko, Tada Masayoshi, Kuwabara Satoshi, Sugiyama Atsuhiko, Yamanaka Yoshitaka, Takahashi Ryosuke, Sawamoto Nobukatsu, Sakato Yusuke, Ishimoto Tomoyuki, Hanajima Ritsuko, Watanabe Yasuhiro, Takigawa Hiroshi, Adachi Tadashi, Abe Koji, Yamashita Toru, Takashima Hiroshi, Higashi Keiko, Kira Junichi, Yabe Ichiro, Matsushima Masaaki, Ogata Katsuhisa, Ishikawa Kinya, Nishida Yoichiro, Ishiguro Taro, Ozaki Kokoro, Nagata Tetsuya, Tsuji Shoji: The Japan MSA registry: A multicenter cohort study of multiple system atrophy(タイトル和訳中) Neurology and Clinical Neuroscience. 2024.09; 12 (5): 271-277. ( ichushi )

  2. Takahashi S, Ono D, Shintaku H, Oyama J, Nishida Y, Ishikawa K, Yokota T: Cryptogenic New-onset Refractory Status Epilepticus with Hyperintensity of T1-weighted Magnetic Resonance Imaging in the Bilateral Basal Ganglia: An Autopsy Report. Internal medicine (Tokyo, Japan). 2024.09; ( PubMed , DOI )

  3. Di Wang, Shinya Honda, Min Kyoung Shin, Kei Watase, Hidehiro Mizusawa, Kinya Ishikawa, Shigeomi Shimizu: Subcellular localization and ER-mediated cytotoxic function of α1A and α1ACT in spinocerebellar ataxia type 6. Biochem Biophys Res Commun. 2024.02; 695 149481. ( PubMed , DOI )

  4. Rayle Mamuti, Sato Nozomu, Ozaki Kokoro, Higashi Miwa, Okita Michi, Yajima Reiko, Amano Akiko, Mizusawa Hidehiro, Yokota Takanori, Ishikawa Kinya: Analysis of the polymorphic SCA37 locus in a cohort of 167 Japanese patients with degenerative ataxia Journal of Medical and Dental Sciences. 2024; 71 11-17. ( ichushi )

  1. Shichen Chang, Satoru Torii, Jun Inamo, Kinya Ishikawa, Yuta Kochi, Shigeomi Shimizu: Uncovering the Localization and Function of a Novel Read-Through Transcript ' TOMM40-APOE' Cells. 2023.12; 13 (1): ( PubMed , DOI )

  2. Ishikawa K: How Certain Are You When Making the Diagnosis of Multiple System Atrophy? Neurology. 2023.12; 101 (24): 1081-1082. ( PubMed , DOI )

  3. Inoue K, Asaka M, Lee S, Ishikawa K, Yanagihara D: Gait disorders induced by photothrombotic cerebellar stroke in mice. Scientific reports. 2023.09; 13 (1): 15805. ( PubMed , DOI )

  4. Shiwaku H, Katayama S, Gao M, Kondo K, Nakano Y, Motokawa Y, Toyoda S, Yoshida F, Hori H, Kubota T, Ishikawa K, Kunugi H, Ikegaya Y, Okazawa H, Takahashi H: Analyzing schizophrenia-related phenotypes in mice caused by autoantibodies against NRXN1α in schizophrenia. Brain Behav Immun. 2023.07; 111 32-45. ( PubMed , DOI )

  5. Fujino Y, Ueyama M, Ishiguro T, Ozawa D, Ito H, Sugiki T, Murata A, Ishiguro A, Gendron T, Mori K, Tokuda E, Taminato T, Konno T, Koyama A, Kawabe Y, Takeuchi T, Furukawa Y, Fujiwara T, Ikeda M, Mizuno T, Mochizuki H, Mizusawa H, Wada K, Ishikawa K, Onodera O, Nakatani K, Petrucelli L, Taguchi H, Nagai Y: FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in C9orf72-linked ALS/FTD. eLife. 2023.07; 12 ( PubMed , DOI )

  6. Mitsui J, Matsukawa T, Uemura Y, Kawahara T, Chikada A, Porto KJL, Naruse H, Tanaka M, Ishiura H, Toda T, Kuzuyama H, Hirano M, Wada I, Ga T, Moritoyo T, Takahashi Y, Mizusawa H, Ishikawa K, Yokota T, Kuwabara S, Sawamoto N, Takahashi R, Abe K, Ishihara T, Onodera O, Matsuse D, Yamasaki R, Kira JI, Katsuno M, Hanajima R, Ogata K, Takashima H, Matsushima M, Yabe I, Sasaki H, Tsuji S: High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial. EClinicalMedicine. 2023.05; 59 101920. ( PubMed , DOI )

  7. Honda T, Matsumura K, Hashimoto Y, Yokota T, Mizusawa H, Nagao S, Ishikawa K: Temporal Relationship between Impairment of Cerebellar Motor Learning and Deterioration of Ataxia in Patients with Cerebellar Degeneration. Cerebellum (London, England). 2023.04; 23 (4): 1280-1292. ( PubMed , DOI )

  8. Ishikawa, K: Spinocerebellar ataxia type 31 (SCA31) JOURNAL OF HUMAN GENETICS. 2023.03; 68 (3): 153-156. ( PubMed , DOI )

  9. Ishikawa Kinya: 【神経・精神疾患の遺伝学】脊髄小脳失調症31型(SCA31)(【Genetics of neurological and psychiatric disorders】Spinocerebellar ataxia type 31(SCA31)) Journal of Human Genetics. 2023.03; 68 (3): 153-156. ( ichushi )

  10. Hamanaka K, Yamauchi D, Koshimizu E, Watase K, Mogushi K, Ishikawa K, Mizusawa H, Tsuchida N, Uchiyama Y, Fujita A, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N: Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans. Genome research. 2023.03; 33 (3): 435-447. ( PubMed , DOI )

  11. Saucier J, Al-Qadi M, Amor MB, Ishikawa K, Chamard-Witkowski L: Spinocerebellar ataxia type 31: A clinical and radiological literature review. Journal of the neurological sciences. 2023.01; 444 120527. ( PubMed , DOI )

  1. Zeniya S, Sanjo N, Kuwahara H, Ishikawa K, Higashi M, Matsunaga A, Yoneda M, Mizusawa Ho, Yokota T: Spinocerebellar Ataxia Type 31 Exacerbated by Anti-amino Terminal of Alpha-enolase Autoantibodies Internal Medicine. 2022.09; 61 (18): 2793-2796. ( ichushi )

  2. Winklehner M, Bauer J, Endmayr V, Schwaiger C, Ricken G, Motomura M, Yoshimura S, Shintaku H, Ishikawa K, Tsuura Y, Iizuka T, Yokota T, Irioka T, Höftberger R: Paraneoplastic Cerebellar Degeneration With P/Q-VGCC vs Yo Autoantibodies. Neurology(R) neuroimmunology & neuroinflammation. 2022.07; 9 (4): e200006. ( PubMed , DOI )

  3. Shiwaku H, Katayama S, Kondo K, Nakano Y, Tanaka H, Yoshioka Y, Fujita K, Tamaki H, Takebayashi H, Terasaki O, Nagase Y, Nagase T, Kubota T, Ishikawa K, Okazawa H, Takahashi H: Autoantibodies against NCAM1 from patients with schizophrenia cause schizophrenia-related behavior and changes in synapses in mice. Cell Rep Med. 2022.04; 3 (4): 100597. ( PubMed , DOI )

  4. Morioka S, Nakanishi H, Yamamoto T, Hasegawa J, Tokuda E, Hikita T, Sakihara T, Kugii Y, Oneyama C, Yamazaki M, Suzuki A, Sasaki J, Sasaki T: A mass spectrometric method for in-depth profiling of phosphoinositide regioisomers and their disease-associated regulation. Nature communications. 2022.01; 13 (1): 83. ( PubMed , DOI )

  5. Aoki H, Higashi M, Okita M, Ando N, Murayama S, Ishikawa K, Yokota T: Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)n. Cerebellum . 2022.01; 22 (1): 70-84. ( PubMed , DOI )

  6. Zeniya S, Sanjo N, Kuwahara H, Ishikawa K, Higashi M, Matsunaga A, Yoneda M, Mizusawa H, Yokota T: Spinocerebellar Ataxia Type 31 Exacerbated by Anti-amino Terminal of Alpha-enolase Autoantibodies. Internal medicine (Tokyo, Japan). 2022; 61 (18): 2793-2796. ( PubMed , DOI )

  1. Kubota Tomoya, Hama Manami, Sugiura Yoshihiro, Takahashi Yuji, Ishikawa Kinya, Mizusawa Hidehiro, Takahashi Masanori P.: 日本における発作性運動失調症の全国調査(A nationwide survey of episodic ataxia in Japan) Neurology and Clinical Neuroscience. 2021.11; 9 (6): 443-451. ( ichushi )

  2. Sakihara T, Takiguchi N, Uzawa H, Serizawa R, Kobayashi T: Erylysin A inhibits cytokinesis in Escherichia coli by binding with cardiolipin. Journal of biochemistry. 2021.10; 170 (3): 369-377. ( PubMed , DOI )

  3. Kokoro Ozaki, Takashi Irioka, Toshiki Uchihara, Akane Yamada, Ayako Nakamura, Takamasa Majima, Susumu Igarashi, Hiroshi Shintaku, Mayumi Yakeishi, Yukio Tsuura, Yasushi Okazaki, Kinya Ishikawa, Takanori Yokota: Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study. Acta neuropathol commun. 2021.10; 9 (1): 172. ( PubMed , DOI )

  4. Sakihara Tomoko, Takiguchi Naoko, Uzawa Hikari, Serizawa Rika, Kobayashi Tetsuyuki: Erylysin A inhibits cytokinesis in Escherichia coli by binding with cardiolipin(和訳中) The Journal of Biochemistry. 2021.09; 170 (3): 369-377. ( ichushi )

  5. Shibata T, Nagano K, Ueyama M, Ninomiya K, Hirose T, Nagai Y, Ishikawa K, Kawai G, Nakatani K: Small molecule targeting r(UGGAA)(n) disrupts RNA foci and alleviates disease phenotype in Drosophila model. Nature communications. 2021.01; 12 (1): 236. ( PubMed , DOI )

  6. Ishikawa, K: Molecular Pathogenesis in Spinocerebellar Ataxia Type 31 (SCA31) CEREBELLUM AS A CNS HUB. 2021; 507-516. ( DOI )

  1. Toru S, Ishida S, Uchihara T, Hirokawa K, Kitagawa M, Ishikawa K: Comorbid argyrophilic grain disease in an 87-year-old male with spinocerebellar ataxia type 31 with dementia: a case report. BMC neurology. 2020.04; 20 (1): 136. ( PubMed , DOI )

  1. Ishikawa K, Nagai Y: Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31). Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2019.11; 16 (4): 1106-1114. ( PubMed , DOI )

  2. Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M, Tanaka K, Sasaoka T, Miyatake S, Miyake N, Saitsu H, Sato N, Ozaki K, Ohta K, Yokota T, Mizusawa H, Mitsui J, Ishiura H, Yoshimura J, Morishita S, Tsuji S, Takeuchi H, Ishikawa K, Matsumoto N, Ishikawa T, Tanaka F: Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42. Neurobiology of disease. 2019.06; 130 104516. ( PubMed , DOI )

  3. Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S: Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. American journal of human genetics. 2019.05; 104 (5): 925-935. ( PubMed , DOI )

  4. Ozaki K, Ansai A, Nobuhara K, Araki T, Kubodera T, Ishii T, Higashi M, Sato N, Soga K, Mizusawa H, Ishikawa K, Yokota T: Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort. Parkinsonism & related disorders. 2019.05; 65 238-242. ( PubMed , DOI )

  5. Furukawa F, Ishikawa K, Yokota T, Sanjo N: Cross-Sectional Area Analysis of the Head of the Caudate Nucleus in Huntington's Disease. European neurology. 2019.04; 81 (1-2): 13-18. ( PubMed , DOI )

  6. Ishikawa Kinya: Calcium channel protein aggregations and role of lysozomes in SCA6 BRAIN PATHOLOGY. 2019.02; 29 8.

  7. Bando K, Honda T, Ishikawa K, Takahashi Y, Mizusawa H, Hanakawa T: Impaired Adaptive Motor Learning Is Correlated With Cerebellar Hemispheric Gray Matter Atrophy in Spinocerebellar Ataxia Patients: A Voxel-Based Morphometry Study. Frontiers in neurology. 2019; 10 1183. ( PubMed , DOI )

  1. Ishikawa Kinya, Ishiguro Taro, Nagai Yoshitaka: 神経疾患の克服を目指して　SCA31　分子病態とRNAシャペロンの役割(SCA31: molecular pathogenesis and role of RNA chaperone) 臨床神経学. 2018.12; 58 (Suppl.): S28. ( ichushi )

  2. Honda T, Nagao S, Hashimoto Y, Ishikawa K, Yokota T, Mizusawa H, Ito M: Tandem internal models execute motor learning in the cerebellum. Proceedings of the National Academy of Sciences of the United States of America. 2018.07; 115 (28): 7428-7433. ( PubMed , DOI )

  3. Itaya Sakiko, Kobayashi Zen, Ozaki Kokoro, Sato Nozomu, Numasawa Yoshiyuki, Ishikawa Kinya, Yokota Takanori, Matsuda Hiroshi, Shintani Shuzo: Spinocerebellar Ataxia Type 31 with Blepharospasm Internal Medicine. 2018.06; 57 (11): 1651-1654. ( ichushi )

  4. Higashi M, Ozaki K, Hattori T, Ishii T, Soga K, Sato N, Tomita M, Mizusawa H, Ishikawa K, Yokota T: A diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging. Journal of the neurological sciences. 2018.04; 387 187-195. ( PubMed , DOI )

  5. Itaya Sakiko, Kobayashi Zen, Ozaki Kokoro, Sato Nozomu, Numasawa Yoshiyuki, Ishikawa Kinya, Yokota Takanori, Matsuda Hiroshi, Shintani Shuzo: Spinocerebellar Ataxia Type 31 with Blepharospasm INTERNAL MEDICINE. 2018; 57 (11): 1651-1654. ( PubMed , DOI )

  1. Hu Yajun, Hashimoto Yuji, Ishii Takashi, Rayle Mamut, Soga Kazumasa, Sato Nozomu, Okita Michi, Higashi Miwa, Ozaki Kokoro, Mizusawa Hidehiro, Ishikawa Kinya, Yokota Takanori: Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.11; 382 87-90.

  2. Yajun Hu, Yuji Hashimoto, Takashi Ishii, Mamut Rayle, Kazumasa Soga, Nozomu Sato, Michi Okita, Miwa Higashi, Kokoro Ozaki, Hidehiro Mizusawa, Kinya Ishikawa, Takanori Yokota: Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects. J. Neurol. Sci.. 2017.11; 382 87-90. ( PubMed , DOI )

  3. Ozaki K., Doi H., Mitsui J., Sato N., Yamane K., Majima T., Irioka T., Ishiura H., Doi K., Morishita S., Koyama K., Miura Y., Matsumoto N., Tanaka F., Tsuji S., Mizusawa H., Yokota T., Ishikawa K.: Clinicoradiological characteristics of SCA34 patients with the hot cross bun sign caused by the P.TRP246GLY mutation in ELOVL4 JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 891. ( DOI )

  4. Higashi M., Ozaki K., Hattori T., Ishii T., Soga K., Sato N., Tomita M., Mizusawa H., Ishikawa K., Yokota T.: Cerebellar ataxia subgroups can be differentiated by pontine magnetic resonance imaging JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 305. ( DOI )

  5. Ishiguro T., Sato N., Ueyama M., Fujikake N., Sellier C., Tokuda E., Zamiri B., Gall-Duncan T., Mirceta M., Furukawa Y., Yokota T., Wada K., Taylor P., Pearson C. E., Charlet-Berguerand N., Mizusawa H., Nagai Y., Ishikawa K.: Balance between RNA binding proetin TDP-43 and an RNA UGGAA repeat underlies pathogenesis of spinocerebellar ataxia type 31 (SCA31) and motor neuron disease fly models JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 56. ( DOI )

  6. Ueyama M., Ishiguro T., Konno T., Koyama A., Wada K., Ishikawa K., Onodera O., Nagai Y.: Repeat associated non-atg translation and its regulation in C9orf72-associated amyotrophic lateral sclerosis/frontotemporal dementia model fly JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 717. ( DOI )

  7. Sato N., Yokota T., Mizusawa H., Ishikawa K.: Pentanucleotide-repeat-associated unconventional translation is observed in spinocerebellar ataxia type 31 JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 893-894. ( DOI )

  8. Takahashi Y., Ishikawa K., Ugawa Y., Onodera O., Kira J. I., Kuwabara S., Sasaki H., Sobue G., Takashima H., Takiyama Y., Takeda A., Tsuji S., Nakashima K., Miyai I., Yoshida K., Mizusawa H.: Japan Consortium of Ataxias (J-Cat): A Cloud -Based national registry for degenerative ataxias providing framework for genetic diagnosis and Prospective Natural History Researches JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 55. ( DOI )

  9. Shimmura Mitsunori, Uehara Taira, Yamashita Kenichiro, Shigeto Hiroshi, Yamasaki Ryo, Ishikawa Kinya, Kira Jun-Ichi: Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 4-6. ( PubMed , DOI )

  10. Taro Ishiguro, Nozomu Sato, Morio Ueyama, Nobuhiro Fujikake, Chantal Sellier, Akemi Kanegami, Eiichi Tokuda, Bita Zamiri, Terence Gall-Duncan, Mila Mirceta, Yoshiaki Furukawa, Takanori Yokota, Keiji Wada, J. Paul Taylor, Christopher E. Pearson, Nicolas Charlet-Berguerand, Hidehiro Mizusawa, Yoshitaka Nagai, and Kinya Ishikawa: Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31. Neuron. 2017.04; 94 (1): 108-124. ( PubMed , DOI )

  11. Sakiko Chikazawa, Takaaki Hanafusa, Kokoro Ozaki, Takeshi Namiki, Maki Amano, Makiko Ueno, Shown Tokoro, Ken Igawa, Takefumi Sato, Kinya Ishikawa, Takanori Yokota, Hiroo Yokozeki: Incomplete Behçet's disease with calf muscle pain and MRI hyperintensity due to possible thrombophlebitis. Eur J Dermatol. 2017.02; 27 (1): 76-77. ( PubMed , DOI )

  12. Kazumasa Soga, Kinya Ishikawa, Tokuro Furuya, Tadatsune Iida, Tetsuo Yamada, Noboru Ando, Kiyobumi Ota, Hiromi Kanno-Okada, Shinya Tanaka, Masayuki Shintaku, Yoshinobu Eishi, Hidehiro Mizusawa, Takanori Yokota: Gene dosage effect in spinocerebellar ataxia type 6 homozygotes: A clinical and neuropathological study. J Neurol Sci. 2017.02; 373 321-328. ( PubMed , DOI )

  1. Kokoro Ozaki, Takashi Irioka, Kinya Ishikawa, Hidehiro Mizusawa: CADASIL with a Novel NOTCH3 Mutation (Cys478Tyr). J Stroke Cerebrovasc Dis. 2015.01; ( PubMed , DOI )

  1. Masato Obayashi, Giovanni Stevanin, Matthis Synofzik, Marie-Lorraine Monin, Charles Duyckaerts, Nozomu Sato, Nathalie Streichenberger, Alain Vighetto, Virginie Desestret, Christelle Tesson, H-Erich Wichmann, Thomas Illig, Johanna Huttenlocher, Yasushi Kita, Yuishin Izumi, Hidehiro Mizusawa, Ludger Schöls, Thomas Klopstock, Alexis Brice, Kinya Ishikawa, Alexandra Dürr: Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion. J. Neurol. Neurosurg. Psychiatr.. 2014.12; ( PubMed , DOI )

  2. Chikara Yamashita, Hiroyuki Tomiyama, Manabu Funayama, Saeko Inamizu, Maya Ando, Yuanzhe Li, Hiroyo Yoshino, Takehisa Araki, Tadashi Ichikawa, Yoshiro Ehara, Kinya Ishikawa, Hidehiro Mizusawa, Nobutaka Hattori: Evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease. Neurobiol. Aging. 2014.07; 35 (7): 1779.e17-1779.e21. ( PubMed , DOI )

  3. Kiyobumi Ota, Masato Obayashi, Kokoro Ozaki, Shizuko Ichinose, Akiyoshi Kakita, Mari Tada, Hitoshi Takahashi, Noboru Ando, Yoshinobu Eishi, Hidehiro Mizusawa, Kinya Ishikawa: Relocation of p25α/tubulin polymerization promoting protein from the nucleus to the perinuclear cytoplasm in the oligodendroglia of sporadic and COQ2 mutant multiple system atrophy. Acta Neuropathol Commun. 2014; 2 136. ( PubMed , DOI )

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