論文・総説 - 石川　欽也

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 )