論文・総説 - 石川　欽也

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  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. ( 医中誌 )

  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. 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). 2024.08; 23 (4): 1280-1292. ( PubMed, DOI )

  4. Wang D, Honda S, Shin MK, Watase K, Mizusawa H, Ishikawa K, Shimizu S. Subcellular localization and ER-mediated cytotoxic function of α1A and α1ACT in spinocerebellar ataxia type 6. Biochemical and biophysical research communications. 2024.02; 695 149481. ( PubMed, DOI )

  5. Rayle Mamuti, Sato Nozomu, Ozaki Kokoro, Higashi Miwa, Okita Michi, Yajima Reiko, Amano Akiko, Mizusawa Hidehiro, Yokota Takanori, Ishikawa Kinya. Degenerative ataxiaの日本人患者167名のコホートを対象とした、多型性を示すSCA37遺伝子座の解析(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. ( 医中誌 )

  6. Chang S, Torii S, Inamo J, Ishikawa K, Kochi Y, Shimizu S. Uncovering the Localization and Function of a Novel Read-Through Transcript 'TOMM40-APOE'. Cells. 2023.12; 13 (1): ( PubMed, DOI )

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

  8. 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 )

  9. 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 )

  10. Shiwaku, H; Katayama, S; Gao, MX; 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 NRXN1? in schizophrenia BRAIN BEHAVIOR AND IMMUNITY. 2023.07; 111 32-45. ( PubMed, DOI )

  11. 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 )

  12. 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. ( 医中誌 )

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

  14. 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 )

  15. 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 (London, England). 2023.02; 22 (1): 70-84. ( PubMed, DOI )

  16. 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 )

  17. Zeniya Satoshi, Sanjo Nobuo, Kuwahara Hiroya, Ishikawa Kinya, Higashi Miwa, Matsunaga Akiko, Yoneda Makoto, Mizusawa Hidehiro, Yokota Takanori. 抗アミノ末端α-エノラーゼ自己抗体による脊髄小脳失調症31型の増悪(Spinocerebellar Ataxia Type 31 Exacerbated by Anti-amino Terminal of Alpha-enolase Autoantibodies) Internal Medicine. 2022.09; 61 (18): 2793-2796. ( 医中誌 )

  18. 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): ( PubMed, DOI )

  19. 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 REPORTS MEDICINE. 2022.04; 3 (4): 100597. ( PubMed, DOI )

  20. 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 )

  21. 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. ( 医中誌 )

  22. Ozaki K, Irioka T, Uchihara T, Yamada A, Nakamura A, Majima T, Igarashi S, Shintaku H, Yakeishi M, Tsuura Y, Okazaki Y, Ishikawa K, Yokota T. Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study. Acta neuropathologica communications. 2021.10; 9 (1): 172. ( PubMed, DOI )

  23. 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 )

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

  25. Ishiguro T, Nagai Y, Ishikawa K. Insight Into Spinocerebellar Ataxia Type 31 (SCA31) From Drosophila Model. Frontiers in neuroscience. 2021; 15 648133. ( PubMed, DOI )

  26. 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 )

  27. 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 )

  28. Hashiguchi Shunta, Doi Hiroshi, Kunii Misako, Nakamura Yukihiro, Shimuta Misa, Suzuki Etsuko, Koyano Shigeru, Okubo Masaki, Kishida Hitaru, Shiina Masaaki, Ogata Kazuhiro, Hirashima Fumiko, Inoue Yukichi, Kubota Shun, Hayashi Noriko, Nakamura Haruko, Takahashi Keita, Katsumoto Atsuko, Tada Mikiko, Tanaka Kenichi, Sasaoka Toshikuni, Miyatake Satoko, Miyake Noriko, Saitsu Hirotomo, Sato Nozomu, Ozaki Kokoro, Ohta Kiyobumi, Yokota Takanori, Mizusawa Hidehiro, Mitsui Jun, Ishiura Hiroyuki, Yoshimura Jun, Morishita Shinichi, Tsuji Shoji, Takeuchi Hideyuki, Ishikawa Kinya, Matsumoto Naomichi, Ishikawa Taro, Tanaka Fumiaki. Ataxic phenotype with altered Ca(v)3.1 channel property in a mouse model for spinocerebellar ataxia 42 NEUROBIOLOGY OF DISEASE. 2019.10; 130 104516. ( PubMed, DOI )

  29. Ozaki Kokoro, Ansai Ayaka, Nobuhara Kouji, Araki Toshihiko, Kubodera Takayuki, Ishii Takashi, Higashi Miwa, Sato Nozomu, Soga Kazumasa, Mizusawa Hidehiro, Ishikawa Kinya, Yokota Takanori. Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort PARKINSONISM & RELATED DISORDERS. 2019.08; 65 238-242. ( PubMed, DOI )

  30. Guo Long, Bertola Debora Romeo, Takanohashi Asako, Saito Asuka, Segawa Yuko, Yokota Takanori, Ishibashi Satoru, Nishida Yoichiro, Yamamoto Guilherme Lopes, da Silva Franco Jose Francisco, Honjo Rachel Sayuri, Kim Chong Ae, Musso Camila Manso, Timmons Margaret, Pizzino Amy, Taft Ryan J., Lajoie Bryan, Knight Melanie A., Fischbeck Kenneth H., Singleton Andrew B., Ferreira Carlos R., Wang Zheng, Yan Li, Garbern James Y., Simsek-Kiper Pelin O., Ohashi Hirofumi, Robey Pamela G., Boyde Alan, Matsumoto Naomichi, Miyake Noriko, Spranger Juergen, Schiffmann Raphael, Vanderver Adeline, Nishimura Gen, dos Santos Passos-Bueno Maria Rita, Simons Cas, Ishikawa Kinya, Ikegawa Shiro. 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 )

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

  32. Furukawa Fumiko, Ishikawa Kinya, Yokota Takanori, Sanjo Nobuo. Cross-Sectional Area Analysis of the Head of the Caudate Nucleus in Huntington's Disease EUROPEAN NEUROLOGY. 2019; 81 (1-2): 13-18. ( PubMed, DOI )

  33. 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 )

  34. 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. ( 医中誌 )

  35. Honda Takeru, Nagao Soichi, Hashimoto Yuji, Ishikawa Kinya, Yokota Takanori, Mizusawa Hidehiro, Ito Masao. 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 )

  36. Itaya Sakiko, Kobayashi Zen, Ozaki Kokoro, Sato Nozomu, Numasawa Yoshiyuki, Ishikawa Kinya, Yokota Takanori, Matsuda Hiroshi, Shintani Shuzo. 眼瞼痙攣を伴う脊髄小脳失調症31型(Spinocerebellar Ataxia Type 31 with Blepharospasm) Internal Medicine. 2018.06; 57 (11): 1651-1654. ( 医中誌 )

  37. Higashi Miwa, Ozaki Kokoro, Hattori Takaaki, Ishii Takashi, Soga Kazumasa, Sato Nozomu, Tomita Makoto, Mizusawa Hidehiro, Ishikawa Kinya, Yokota Takanori. 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 )

  38. 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 )

  39. 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.

  40. Hu Y, Hashimoto Y, Ishii T, Rayle M, Soga K, Sato N, Okita M, Higashi M, Ozaki K, Mizusawa H, Ishikawa K, Yokota T. 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. ( PubMed, DOI )

  41. 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 )

  42. 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 )

  43. 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 )

  44. 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 )

  45. 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 )

  46. 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 )

  47. 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 )

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

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

  50. Chikazawa Sakiko, Hanafusa Takaaki, Ozaki Kokoro, Namiki Takeshi, Amano Maki, Ueno Makiko, Tokoro Shown, Igawa Ken, Sato Takefumi, Ishikawa Kinya, Yokota Takanori, Yokozeki Hiroo. Incomplete Behc, et's disease with calf mus-cle pain and MRI hyperintensity due to possible thrombophlebitis EUROPEAN JOURNAL OF DERMATOLOGY. 2017; 27 (1): 76-77. ( PubMed, DOI )

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

  52. Kokoro Ozaki, Nobuo Sanjo, Kinya Ishikawa, Miwa Higashi, Takaaki Hattori, Naoyuki Tanuma, Rie Miyata, Masaharu Hayashi, Takanori Yokota, Atsushi Okawa, Hidehiro Mizusawa. Elevation of 8-hydroxy-2′-deoxyguanosine in the cerebrospinal fluid of three patients with superficial siderosis Neurology and Clinical Neuroscience. 2015; ( DOI )

  53. 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 )

  54. 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 )

  55. 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 )

  56. 石川 欽也. 【急性期から在宅まで活用できる!!脳神経内科疾患と看護】(2章)脳神経内科疾患と看護(5)神経難病　脊髄小脳失調症 Brain Nursing. 2023.08; (2023夏季増刊): 156-157. ( 医中誌 )

  57. 石川 欽也. 【急性期から在宅まで活用できる!!脳神経内科疾患と看護】(2章)脳神経内科疾患と看護(5)神経難病　多系統萎縮症 Brain Nursing. 2023.08; (2023夏季増刊): 151-152. ( 医中誌 )

  58. 石川 欽也. 【急性期から在宅まで活用できる!!脳神経内科疾患と看護】(2章)脳神経内科疾患と看護(5)神経難病　脊髄小脳変性症 Brain Nursing. 2023.08; (2023夏季増刊): 149-150. ( 医中誌 )

  59. 石川 欽也. Digestシリーズ　リピート病の今(Vol.4)　脊髄小脳失調症31型(SCA31) Medical Science Digest. 2023.02; 49 (2): 59-61. ( 医中誌 )

  60. 石川 欽也, 水澤 英洋. 【日本発の神経疾患-発見の歴史からのメッセージ】遺伝性疾患　SCA6,SCA31　臨床・原因究明の歴史　わが国の遺伝性皮質性小脳萎縮症の解明をめざして Clinical Neuroscience. 2023.01; 41 (1): 44-49. ( 医中誌 )

  61. 石川 欽也. 治療法の再整理とアップデートのために　専門家による私の治療　脊髄小脳変性症、多系統萎縮症など 日本医事新報. 2021.04; (5060): 41-42. ( 医中誌 )

  62. 石川 欽也. 【内科疾患の診断基準・病型分類・重症度】(第7章)神経・筋　診断メモ　脊髄小脳変性症 内科. 2021.04; 127 (4): 865. ( 医中誌 )

  63. 石川 欽也. 【小脳研究の未来】病態　脊髄小脳変性症の病態生理 生体の科学. 2021.02; 72 (1): 62-68. ( 医中誌 )

  64. 石川 欽也. 【ジストニアupdate-診療ガイドライン2018を超えて】脊髄小脳変性症のジストニア Clinical Neuroscience. 2020.09; 38 (9): 1161-1163. ( 医中誌 )

  65. 石川 欽也. 【神経変性疾患の治療開発の現状-新たな戦略構築の基盤をめざして】各分野の動向　脊髄小脳失調症(SCA) 医学のあゆみ. 2020.04; 273 (1): 73-78. ( 医中誌 )

  66. 石川 欽也, 石黒 太郎, 佐藤 望, 永井 義隆. 【非翻訳領域の繰り返し配列伸長変異による神経疾患の臨床および病態機序】RNA結合蛋白と病態機序 脳神経内科. 2019.10; 91 (4): 458-464. ( 医中誌 )

  67. 融 衆太, 石田 尚子, 内原 俊記, 北川 昌伸, 廣川 勝いく, 石川 欽也. 認知障害を呈し、剖検で嗜銀性顆粒を認めた脊髄小脳変性症31型の87歳男性例 Dementia Japan. 2019.10; 33 (4): 542. ( 医中誌 )

  68. 石川 欽也. 【多系統萎縮症-新たな展開】臨床的広がり　小脳症候MSA-C Clinical Neuroscience. 2019.09; 37 (9): 1082-1084. ( 医中誌 )

  69. 石川 欽也. 【小脳学習説Marr-Albus-Ito理論の50年】機能障害と治療　脊髄小脳変性症の分子病態 Clinical Neuroscience. 2019.08; 37 (8): 1003-1006. ( 医中誌 )

  70. 石川 欽也. 【医薬品副作用学(第3版)下-薬剤の安全使用アップデート-】臓器・系統別副作用各論　重大な副作用を中心に　神経・筋骨格系　運動失調 日本臨床. 2019.07; 77 (増刊4 医薬品副作用学(下)): 342-344. ( 医中誌 )

  71. 石川 欽也. 【嚥下障害と誤嚥性肺炎】主な神経疾患の嚥下障害の臨床　脊髄小脳変性症 Clinical Neuroscience. 2019.05; 37 (5): 558-560. ( 医中誌 )

  72. 石川 欽也. 原著から今日まで　代表的疾患の変遷　特徴的なめまいを示す脊髄小脳変性症SCA6 Equilibrium Research. 2019.04; 78 (2): 55-60. ( 医中誌 )

  73. 石川 欽也. 【リピート病の病態機構UPDATE-RNA毒性とRAN翻訳】リピート伸長に起因する脊髄小脳変性症の病態と治療戦略 医学のあゆみ. 2018.12; 267 (11-12): 836-842. ( 医中誌 )

  74. 齋藤 明日香, 服部 高明, 宮下 彰子, 飯田 真太朗, 小林 正樹, 赤座 美穂, 石橋 哲, 叶内 匡, 三條 伸夫, 石川 欽也, 横田 隆徳. 高CK血症を呈する筋萎縮性側索硬化症の筋生検所見の検討 臨床神経学. 2018.12; 58 (Suppl.): S291. ( 医中誌 )

  75. 入岡 隆, 高橋 祐子, 大谷 泰, 小林 正樹, 石川 欽也, 横田 隆徳. 肺小細胞癌に伴う傍腫瘍性感覚性ニューロパチーを呈したHu抗体陰性、カルシウムチャネル抗体・SOX1抗体共陽性の71歳男性例 臨床神経学. 2018.12; 58 (12): 785. ( 医中誌 )

  76. 尾崎 心, 安斉 綾香, 石井 俊, 東 美和, 佐藤 望, 大北 倫, 曽我 一將, 水澤 英洋, 石川 欽也, 横田 隆徳. 本邦におけるSCA34の遺伝疫学的調査 臨床神経学. 2018.12; 58 (Suppl.): S266. ( 医中誌 )

  77. 尾崎 心, 水澤 英洋, 石川 欽也, 横田 隆徳. 脂肪酸伸長酵素ELOVL4/5の変異がもたらす脊髄小脳失調症 お茶の水医学雑誌. 2018.10; 66 (2): 297-305. ( 医中誌 )

  78. 永井 義隆, 石川 欽也. 核酸の恒常性維持と神経変性　ノンコーディングリピート病におけるRNA凝集、RNA翻訳と神経変性メカニズム Dementia Japan. 2018.09; 32 (3): 398. ( 医中誌 )

  79. 永井 義隆, 石川 欽也. 脳タンパク質老化と神経変性　TDP-43のRNAシャペロンとしての新機能　脊髄小脳失調症31型(SCA31)の変異RNA凝集とリピート関連翻訳に対する制御機構 日本生化学会大会プログラム・講演要旨集. 2018.09; 91回 [3S05m-02]. ( 医中誌 )

  80. 石川 欽也. 【神経難病と創薬】脊髄小脳変性症に対する創薬の展望 医薬ジャーナル. 2018.07; 54 (7): 1641-1647. ( 医中誌 )

  81. 石川 欽也. 遺伝性脊髄小脳変性症の鑑別診断 パーキンソン病・運動障害疾患コングレスプログラム・抄録集. 2018.07; 12回 49. ( 医中誌 )

  82. 石川 欽也. 脊髄小脳変性症の最近の話題　脊髄小脳失調症の治療の進歩 神経治療学. 2018.05; 35 (3): 326. ( 医中誌 )

  83. 石川 欽也. 【神経疾患の再生医療】間葉系幹細胞による研究　多系統萎縮症の治療 Clinical Neuroscience. 2018.03; 36 (3): 364-366. ( 医中誌 )

  84. 石川 欽也. 【脊髄小脳変性症の最近の治療と研究】[第3部]脊髄小脳失調症31型(SCA31)の最新研究 難病と在宅ケア. 2018.02; 23 (11): 14-16. ( 医中誌 )

  85. 齋藤 明日香, 石橋 哲, 瀬川 裕子, 西田 陽一郎, 石川 欽也, 三條 伸夫, 横田 隆徳. HDLS様の白質脳症をきたした異骨硬化症(Dysosteosclerosis)の36歳女性例 臨床神経学. 2018.01; 58 (1): 57. ( 医中誌 )

  86. 石川 欽也. リピート病における神経変性の分子機構解明を目指して　脊髄小脳失調症31型(SCA31)の病態 生命科学系学会合同年次大会. 2017.12; 2017年度 [3PW23-6]. ( 医中誌 )

  87. 石川 欽也. 脊髄小脳変性症の最近の話題　脊髄小脳失調症の治療の進歩 神経治療学. 2017.11; 34 (6): S109. ( 医中誌 )

  88. 石川 欽也. 【脊髄小脳変性症(SCD)-最新診療マニュアル】診断と診断基準　診断のアルゴリズム Clinical Neuroscience. 2017.09; 35 (9): 1067-1069. ( 医中誌 )

  89. 石川 欽也. 【新しく発見された神経疾患遺伝子】遺伝性脊髄小脳変性症の新しい遺伝子と病態 神経内科. 2017.08; 87 (2): 136-141. ( 医中誌 )

  90. 石川 欽也. 【多系統萎縮症の新しい道】[第4部]多系統萎縮症に対する新しい治療展開 難病と在宅ケア. 2017.05; 23 (2): 18-19. ( 医中誌 )

  91. 石川 欽也, 吉田 雅幸. 【最新遺伝医学研究と遺伝カウンセリング　シリーズ2　最新精神・神経遺伝医学研究と遺伝カウンセリング】(第2章)精神・神経疾患の遺伝医学研究・診療各論　脊髄小脳変性症 遺伝子医学MOOK. 2017.04; 別冊 (最新精神・神経遺伝医学研究と遺伝カウンセリング): 138-142. ( 医中誌 )

  92. Yamazaki M, Fukuda T, Ishikawa K, Goto J. [An Autopsied Case of Familial Spinocerebellar Degeneration Presenting with Late-Onset Autonomic Dysfunction]. Brain and nerve = Shinkei kenkyu no shinpo. 2017.03; 69 (3): 277-286. ( PubMed, DOI )

  93. 山崎 幹大, 福田 隆浩, 石川 欽也, 後藤 淳, 河村 満, 井口 保之, 小野 賢二郎, 織茂 智之, 鈴木 正彦, 田久保 秀樹, 藤ヶ崎 純子, 星野 晴彦. Neurological CPC　全経過が6年で晩期に自律神経障害を呈した家族性脊髄小脳変性症の63歳男性剖検例 BRAIN and NERVE: 神経研究の進歩. 2017.03; 69 (3): 277-286. ( 医中誌 )

  94. Satoko Sakakibara, Ikuko Aiba, Yufuko Saito, Akira Inukai, Kinya Ishikawa, Hidehiro Mizusawa. [Clinical features and MRI findings in spinocerebellar ataxia type 31 (SCA31) comparing with spinocerebellar ataxia type 6 (SCA6)]. Rinsho Shinkeigaku. 2014; 54 (6): 473-479. ( PubMed )

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