連絡先
小久保康昌
三重大学大学院
地域イノベーション学研究科
紀伊難病研究センター
〒 514-8507
三重県 津市栗真町屋町1577
Phone & Fax; 059-231-5117
E-mail:
kii-project@clin.medic.mie-u.ac.jp


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発表論文

小久保康昌

  1. Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Li Y, Ogaki K, Ando M, Yoshino H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, ○Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 2015 Mar;14(3):274-82.

  2. ○小久保康昌、中川十夢、宮崎光一、森本悟、葛原茂樹. 紀伊半島の筋萎縮性側索硬化症/Parkinson認知症複合における edaravone を用いた臨床研究. 神経治療学 2014;31:50-53.

  3. Kihira T, Sakurai I, Yoshida S, Wakayama I, Takamiya K, Okumura R, Iinuma Y, Iwai K, Kajimoto Y, Hiwatani Y, Kohmoto J, Okamoto K, ○Kokubo Y, Kuzuhara S. Neutron Activation Analysis of Scalp Hair from ALS Patients and Residents in the Kii Peninsula, Japan. Biol Trace Elem Res. 2015 Mar;164(1):36-42.

  4. Shindo A, Ueda Y, Kuzuhara S, ○Kokubo Y. Neuropsychological study of amyotrophic lateral sclerosis and parkinsonism-dementia complex in Kii peninsula, Japan. BMC Neurol. 2014 Jul 21;14:151.

  5. Okumiya K, Wada T, Fujisawa M, Ishine M, Garcia Del Saz E, Hirata Y, Kuzuhara S, ○Kokubo Y, Seguchi H, Sakamoto R, Manuaba I, Watofa P, Rantetampang AL, Matsubayashi K. Amyotrophic lateral sclerosis and parkinsonism in Papua, Indonesia: 2001-2012 survey results. BMJ Open. 2014 Apr 16;4(4):e004353.

  6. Nishioka K, Funayama M, Vilariño-Güell C, Ogaki K, Li Y, Sasaki R, ○Kokubo Y, Kuzuhara S, Kachergus JM, Cobb SA, Takahashi H, Mizuno Y, Farrer MJ, Ross OA, Hattori N. EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population. Parkinsonism Relat Disord. 2014 Jun;20(6):659-61.

  7. Kihira T, Okamoto K, Yoshida S, Kondo T, Iwai K, Wada S, Kajimoto Y, Kondo T, ○Kokubo Y, Kuzuhara S. Environmental characteristics and oxidative stress of inhabitants and patients with amyotrophic lateral sclerosis in a high-incidence area on the Kii Peninsula, Japan. Intern Med. 2013;52(13):1479-86.

  8. Ando M, Funayama M, Li Y, Kashihara K, Murakami Y, Ishizu N, Toyoda C, Noguchi K, Hashimoto T, Nakano N, Sasaki R, ○Kokubo Y, Kuzuhara S, Ogaki K, Yamashita C, Yoshino H, Hatano T, Tomiyama H, Hattori N. VPS35 mutation in Japanese patients with typical Parkinson's disease. Mov Disord. 2012 Sep 15;27(11):1413-7.

  9. Ogaki K, Li Y, Takanashi M, Ishikawa K, Kobayashi T, Nonaka T, Hasegawa M, Kishi M, Yoshino H, Funayama M, Tsukamoto T, Shioya K, Yokochi M, Imai H, Sasaki R, ○Kokubo Y, Kuzuhara S, Motoi Y, Tomiyama H, Hattori N. Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS. Parkinsonism Relat Disord. 2013 Jan;19(1):15-20.

  10. Yui Nakayama, Satoru Morimoto, Misao Yoneda, Shigeki Kuzuhara, and ○Yasumasa Kokubo. Cerebrospinal Fluid Biomarkers for Kii Amyotrophic Lateral Sclerosis / Parkinsonism-Dementia Complex. Journal of Neurodegenerative Diseases 2013

  11. Naruse H, Takahashi Y, Kihira T, Yoshida S, ○Kokubo Y, Kuzuhara S, Ishiura H, Amagasa M, Murayama S, Tsuji S, Goto J. Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population. Amyotroph Lateral Scler. 2012 Oct;13(6):562-6.

  12. Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, ○Kokubo Y, Kuzuhara S, Ranum LP, Tamaoki T, Ichikawa Y, Date H, Goto J, Tsuji S. C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch Neurol. 2012 Sep;69(9):1154-8.

  13. Kihira T, Yoshida S, Kondo T, Iwai K, Wada S, Morinaga S, Kazimoto Y, Kondo T, Okamoto K, ○Kokubo Y, Kuzuhara S. An increase in ALS incidence on the Kii Peninsula, 1960-2009: a possible link to change in drinking water source. Amyotroph Lateral Scler. 2012 Jun;13(4):347-50.

  14. ○Kokubo Y, Taniguchi A, Hasegawa M, Hayakawa Y, Morimoto S, Yoneda M, Hirokawa Y, Shiraishi T, Saito Y, Murayama S, Kuzuhara S. α-Synuclein Pathology in the Amyotrophic Lateral Sclerosis/Parkinsonism Dementia Complex in the Kii Peninsula, Japan. J Neuropathol Exp Neurol. 2012;71:625-30.

  15. ○Kokubo Y, Nomura Y, Morimoto S, Kuzuhara S. Cardiac (123)I-meta-iodobenzylguanidine scintigraphy in patients with amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii peninsula, Japan. Parkinsonism and Related Disorders 18 (2012) 306-308

  16. ○Yasumasa Kokubo, Satoru Morimoto, Akihiro Shindo, Yoshihumi Hirokawa, Taizo Shiraishi, Yuko Saito, Shigeo Murayama, Shigeki Kuzuhara. Cardiac 123I-Meta- Iodobenzylguanidine Scintigraphy and Lewy Body Pathology in a Patient with Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex of Kii, Japan. Mov Disord. 2011 Oct;26(12):2300-1.

  17. Hiroyuki Tomiyama, Hiroyo Yoshino, Kotaro Ogaki, Lin Li, Chikara Yamashita, Yuanzhe Li, Manabu Funayama, Ryogen Sasaki, ○Yasumasa Kokubo, Shigeki Kuzuhara, and Nobutaka Hattori. PLA2G6 variant in Parkinson’s disease J Hum Genet. 2011 May;56(5):401-3.

  18. Kihira T, Yoshida S, Murata K, Ishiguti H, Kondo T, Kohmoto J, Okamoto K, ○Kokubo Y, Kuzuhara S. Changes in the incidence and clinical features of ALS in the Koza, Kozagawa, and Kushimoto area of the Kii Peninsula--from the 1960s to the 2000s (follow-up study) Brain Nerve. 2010 Jan;62(1):72-80.

  19. Naito Y, Matsuo K, ○Kokubo Y, Narita Y, Tomimoto H. Higher-dose glutathione therapy for Parkinson's disease in Japan: is it really safe? Mov Disord. 2010 May 15;25(7):962; author reply 962-3.

  20. Kenju Hara, ○Yasumasa Kokubo, Hiroyuki Ishiura, Yuko Fukuda, Akinori Miyashita, Ryozo Kuwano, RyogenSasaki, Jun Goto, Masatoyo Nishizawa, Shigeki Kuzuhara, and Shoji Tsuji. TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan Am J Med Genet Part B Neuropsychiatric Genetics 2010 Jan 5;153B(1):310-3.

  21. Akihiro Shindo, ○Yasumasa Kokubo, Ken Kagawa,uichiro Ii, Ryogen Sasaki, Josep Dalmau, Shigeki Kuzuhara. Anti-N-methyl-D-aspartate receptor-related grave but reversible encephalitis with ovarian teratoma in two Japanese women presenting with excellent recovery without tumor resection Eur Neurol 2009;61:50–51.

  22. Hiroyuki Kajikawa, ○Yasumasa Kokubo, Akira Taniguchi, Yutaka Naito and Shigeki Kuzuhara. Juvenile Muscular Atrophy of the Distal Upper Extremity (Hirayama Disease) in Two Lanky Look-Alike Brothers The Neurologist 2009 Jul;15(4):220-2.

  23. Morimoto S, Kuzuhara S, ○Kokubo Y. Increased oxidative stress in patients with amyotrophic lateral sclerosis/parkinsonism-dementia complex in the Kii peninsula, Japan. Mov Disord. 2008;24123-126.

分担研究者

岩田 淳

  1. Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Koichiro Higasa, Jun Yoshimura, Taro L. Saito, Budrul Ahsan, Yuji Takahashi, Jun Goto, Atsushi Iwata, Mari Yoshida, Shinichi Morishita, Shoji Tsuji. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet. 2012,159B(8):951-7

  2. Akatsuki Kubota, Jun Shimizu, Atsushi Iwata, Shoji Tsuji. Aberrant expression of myogenin in inclusion body myositis: Immunohistochemical studies of transcription factors regulating myogenesis in inflammatory myopathies. Clinical and Experimental Neuroimmunology. 2012,3, 129-137

  3. Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, Toshitaka Kawarai, Osamu Tanabe, Jun Goto, Yuji Takahashi, Hidetoshi Date, Jun Mitsui, Budrul Ahsan, Yaeko Ichikawa, Atsushi Iwata, Hiide Yoshino, Yuishin Izumi, Koji Fujita, Kouji Maeda, Satoshi Goto, Hidetaka Koizumi, Ryoma Morigaki, Masako Ikemura, Naoko Yamauchi, Shigeo Murayama; Garth A Nicholson, Hidefumi Ito, Gen Sobue, Masanori Nakagawa, Ryuji Kaji, Shoji Tsuji. The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P).American Journal of Human Genetics, 2012,91(2): 320-329

  4. Ryo Ohtomo, Atsushi Iwata, Shoji Tsuji. Unilateral opercular infarction presenting Foix-Chavany-Marie Syndrome. Journal of Stroke and Cerebrovascular Diseases, 2012,in press

  5. Junji Koya, Atsushi Iwata, Fumihiko Nakamura, Motoshi Ichikawa, Shoji Tsuji, Mineo Kurokawa. Fludarabine may overcome resistance to rituximab in IgM-related neuropathy. Journal of Neurological Sciences, 2012,315(1-2): 150-152

  6. Yuichiro Shirota, Atsushi Iwata, Hiroyuki Ishiura, Meiko Hashimoto, Jun Goto, Jun Shimizu, Ritsuko Hanajima, Jun Nakajima, Yutaka Takazawa, and Shoji Tsuji.Upper-limb predominant familial amyloid polyneuropathy diagnosed by lung tissue Internal Medicine, 2010;49(15):1627-3

江良 択実

  1. ○Hamasaki M, Hashizume Y, Yamada Y, Katayama T, Hohjoh H, Fusaki N, Nakashima Y, Furuya H, Haga N and Era T. Pathogenic mutation of ALK2 inhibits iPS cell reprogramming and maintenance: mechanisms of reprogramming and strategy for drug identification. Stem Cells 2012,30:2437-2449.

  2. ○Kitagawa M, Takabe A, Ono Y, Imai T, Nakao K, Nishikawa SI and Era T. Phf14, a Novel Regulator of Mesenchyme Growth via Platelet-derived Growth Factor (PDGF) Receptor-a. J. Biol. Chem. 2012, 287: 27983-27996.

  3. Aoki H, Hara A, Era T, Kunisada T, and Yamada Y. Genetic ablation of Rest leads to in vitro-specific derepression of neuronal genes during neurogenesis. Development. 2012. 139(4): 667-677

岡本 和士

  1. Okamoto K. Subarachnoid hemorrhage and protective effects of green tea consumption. ln V.R. Preedy (Ed), Tea in health and disease prevention (pp 941-949). London, UK: Elsevier.

  2. 池田若葉, 稲葉裕, 吉田勝美, 竹下達也, 御輿久美子, 岡本和士,日本衛生学会評議員を対象とした科学者の行動規範に関する意識調査(原著論文) 日本衛生学雑誌. 2010; 65; 60-74.

  3. Wakaha Ikeda, Yutaka Inaba, Tatsuya Takeshita, Katsumi Yoshida, Kumik Oogoshi, Kazushi Okamoto. Does the Japanese Society for Hygiene need its own Code of Conduct?―A comparison of questionnaire between councilors and junior members― Environmental Health and Preventive Medicine.2010 (in print)

  4. Meiho Nakayama, Motohiko Suzuki, Akira Inagaki, Keiji Takemura, Nobuhiro Watanabe, Tohru Tanigawa, . Kazushi Okamoto, Hirokazu Hattori, Hilary Brodie, Shingo Murakami. Impaired quality of sleep in Meniere's disease patients. Clinical Sleep Medicine. 2010; 6: 445-449.

  5. Okamoto K, Momose Y, Fujino A, Osawa Y, Life worth living for caregiving and caregiver burden among Japanese caregivers of the disabled elderly in Japan, Arch Gerontol Geriatr. 2009; 48 : 10-13.

  6. ○Okamoto K, Kihira T, Kondo T, Kobashi G, Washio M, Sasaki S, Yokoyama T, Miyake Y, Sakamoto N, Inaba Y, Nagai M, Fruit and Vegetable Intake and Risk of Amyotrophic Lateral Sclerosis in Japan, Neuroepi. 2009; 32 : 251-256.

  7. Okamoto K. Harasawa Y, Predictor of increase in caregiver burden for disabled elderly at home, Arch Gerontol Geriatr. 2009; 49 : 129-131.

  8. Okamoto K. Harasawa Y, Emotional support from family members and subjective health in caregivers of the frail elderly at home in Japan, Arch Gerontol Geriatr. 2009; 49 : 138-141.

  9. ○Okamoto K, Kihira T, Kondo T, Kobashi G, Washio M, Sasaki S, Yokoyama T, Miyake Y, Sakamoto N, Inaba Y, Nagai M, Lifestyle Factors and Risk of Amyotrophic Lateral Sclerosis: Case-Control Study in Japan, Ann Epidemiol.2009; 19 : 359-364.

  10. Kobashi G, Ohta K, Washio M, Okamoto K, Sasaki S, Yokoyama T, Miyake Y, Sakamoto N, Hata A, Tamashiro H,Inaba Y, Tanaka H; Japan Collaborative Epidemiological Study Group for Evaluation of Ossification of the Posterior Longitudinal Ligament of the Spine Risk. FokI variant of vitamin D receptor gene and factors related to atherosclerosis associated with ossification of the posterior longitudinal ligament of the spine: a multi-hospital case-control study. Spine.2008: 33:E553-8

紀平 為子

  1. ○Kihira T, Okamoto K, Yoshida S, Kondo T, Iwai K, Wada S, Kajimoto Y, Kondo T, Kokubo Y, Kuzuhara S. Environmental characteristics and oxidative stress of inhabitants and patients with amyotrophic lateral sclerosis in a high-incidence area on the Kii Peninsula, Japan. Intern Med. 2013;52:1479-86

  2. ○Naruse H, Takahashi Y, Kihira T, Yoshida S, Kokubo Y, Kuzuhara S, Ishiura H, Amagasa M, Murayama S, Tsuji S, Goto J. Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population. Amyotroph Lateral Scler. 2012;13:562-6

  3. ○Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, Kokubo Y, Kuzuhara S, Ranum LP, Tamaoki T, Ishikawa Y, Date H, Goto J, Tsuji S. C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii Peninsula of Janan. Arch Neurol. 2012;69:1154-1158

  4. ○Tameko Kihira, S Yoshida, T Kondo, K Iwai, S Wada, S Morinaga, Y Kazimoto, T Kondo, K Okamoto, Y Kokubo, S Kuzuhara. An increase in ALS incidence on the Kii Peninsula, 1960-2009: A possible link to change in drinking water source. Amyotrophic Lateral Sclerosis. 2012;13:347-350

  5. ○紀平為子、岡本和士、吉田宗平、近藤智善、永井正規.和歌山県内筋萎縮性側索硬化 症多発地における元素の特徴に関する疫学的検討. 神経内科 2010, 73, 507-512.

  6. ○Yoshihiro Miyake , Keiko Tanaka, Wakaba Fukushima, Satoshi Sasaki, Chikako Kiyohara, Yoshio Tsuboi, Tatsuo Yamada, Tomoko Oeda, Takami Miki, Nobutoshi Kawamura, Nobutaka Sakae, Hidenao Fukuyama i, Yoshio Hirota, Masaki Nagai Fukuoka Kinki Parkinson's Disease Study Group Case?control study of risk of Parkinson's disease in relation to hypertension, hypercholesterolemia, and diabetes in Japan J Neurol Sci 2010, 15, 82-86.

  7. ○Kihira T, Suzuki A, Kondo T., et al. Immunohistochemical expression of IGF-I and GSK in the spinal cord of Kii and Guamanian ALS patients. Neuropathology, 2009; 29: 548-558

  8. ○Okamoto K, Kihira T, Kobashi G, et al. Fruit and vegetable intake and risk of amyotrophic lateral sclerosis inJapan. Neuroepidemiology 2009; 32: 251-256

  9. ○Sakamoto N, Inaba Y, and Nagai M. Lifestyle factors and risk of amyotrophic lateral sclerosis: a case-control study in Japan. Ann Epidemiol 2009; 19: 359-364.

  10. 紀平為子.パーキンソン病のQOLを計るいろいろな評価スケールについて説明して下さい。In パーキンソン病診療Q&A110 水野美邦編 中外医学社 2009; p.338-345.

辻 省次

  1. ○Majounie E, Renton AE, Mok K, Dopper EGP, Waite A, Rollinson S, Chio A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, The Chromosome 9-ALS/FTD Consortium, The French research network on FTLD/FTLD/ALS, The ITALSGEN Consortium, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu C-S, Yeh T-H, Ishiura H, Takahashi Y, Tsuji S, Ber IL, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, *Traynor BJ. C9ORF72 hexanucleotide repeat expansion in sporadic ALS and FTD around the world. Lancet Neurol 2012, 11: 323-30

  2. ○Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, Kokubo Y, Kuzuhara S, Ranum LPW, Tamaoki T, Ichikawa Y, Date H, Goto J, and Tsuji S. C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch Neurol 2012 ,69:1154-1158

  3. Naruse H, Takahashi Y, Kihira T, Yoshida S, Kokubo Y, Kuzuhara S, Ishiura H, Amagasa M, Murayama S, Tsuji S, Goto J. Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population. Amyotroph Lateral Scler 2012;13:562-6.

  4. Matsukawa T, Asheuer M, Takahashi Y, Goto J, Suzuki Y, Shimozawa N, Takano H, Onodera O, Nishizawa M, Aubourg P and Tsuji S. Identification of novel SNPs of ABCD1, ABCD2, ABCD3 and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. Neurogenetics (2011) 12: 41-5

  5. Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S. Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. Neurogenet (2011) 12:117-21

  6. Matsukawa T, Wang X, Liu R, Onuki Y, Kubota A, Hida A, Kowa H, Fukuda Y, Ishiura H, Mitsui J, Takahashi Y, Aoki S, Takizawa T, Shimizu J, Goto J, Proud CG and Tsuji S. Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. Neurogenet (2011) 12:259-61

  7. Hashimoto Maeda M, Mitsui J, Soong B-W, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J and Shoji Tsuji. Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease. Ann Neurol. (in press)

  8. Hara K, Kokubo Y, Ishiura H, Fukuda Y, Miyashita A, Kuwano R, Sasaki R, Goto J, Nishizawa M, Kuzuhara S, and Tsuji S. TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan. Am. J. Med. Genet.2010

  9. ○Kenju Hara1, Yasumasa Kokubo, Hiroyuki Ishiura, Yuko Fukuda, Akinori Miyashita, Ryozo Kuwano, RyogenSasaki, Jun Goto, Masatoyo Nishizawa, Shigeki Kuzuhara, and Shoji Tsuji. TRPM7 is not associated witamyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan Am J MedGenet Part B Neuropsychiatric Genetics 2010

  10. Norihiro Takei, Akinori Miyashita, Tamao Tsukie, Hiroyuki Arai, Takashi Asada, Masaki Imagawa, Mikio Shoji, Susumu Higuchi, Katsuya Urakami, Hideo Kimura, Akiyoshi Kakita, Hitoshi Takahashi, Shoji Tsuji, Ichiro Kanazawa, Yasuo Ihara, Shoji Odani, Ryozo Kuwano Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese. Genomics2010

  11. Wang K, Takahashi Y, Gao Z-L, Wang GX, Chen XW, Goto J, Lou J-N, Tsuji S. Mitochondrial ND3 as the Novel Causative Gene for Leber Hereditary Optic Neuropathy and Dystonia. Neurogenetics 2010

  12. Hara K, Shiga A, Fukutake T, Nozaki H, Miyashita A, Yokoseki A, Kawata H, Koyama A, Arima K, Takahashi T, Ikeda M, Shiota H, Tamura M, Shimoe Y, Hirayama M, Arisato T, Yanagawa S, Tanaka A, Nakano I, Ikeda S, Yoshida Y, Yamamoto T, Ikeuchi T, Kuwano R, Nishizawa M, Tsuji S, Onodera O. Familial Ischemic Cerebral Small-Vessel Disease, Alopecia, and Spondylosis Caused by Mutations in the HTRA1 Gene. New Engl J Med 2009; 360:, 1729-1739.

  13. Fukuda Y, Nakahara Y, Date H, Takahashi Y, Goto J, Miyashita A, Kuwano R, Adachi H, Nakamura E, and Tsuji S. SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data. BMC Bioinformatics 2009; 10:121 doi:10.1186/1471-2105-10-121.

  14. Dick Krueger KA, Tsuji S, Fukuda Y, Takahashi Y, Goto J, Mitsui J, Ishiura H, Dalton JC, Miller MB, Day JD, Ranum LPW. SNP Haplotype Mapping in a Small ALS Family. PLoS ONE. 2009.;4:e5687.

  15. Sidransky E, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen C-M, Clark ON, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer M, Fung H-C, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp R, Lang AE, Lee-Chen G-J, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nalls MA, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan E-K, Tayebi N, Toda T, Troiano A, Tsuji S, Wittstock M, Wolfsberg TG, Wu Y-R, Zabetian CP, Zhao Y, Ziegler SG. International multi-center analysis of glucocerebrosidase mutations in Parkinson disease. New Engl J. Med. 2009;361:1651-1661.

  16. Koike A, Nishida N, Inoue I, Tsuji S, and Tokunaga K. Genome-wide association database developed in the Japanese Integrated Database Project. J. Hum. Genet. advance online publication 24 July 2009; doi: 10.1038/jhg.2009.68

  17. Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H.Spinocerebellar Ataxia Type 31 Is Associated with "Inserted" Penta-Nucleotide Repeats Containing (TGGAA)(n). Am J Hum Genet. 2009;85:544-557.

  18. Takei N, Miyashita A, Tsukie T, Arai H, Asada T, Imagawa M, Shoji M, Higuchi S, Urakami K, Kimura H, Kakita A, Takahashi H, Tsuji S, Kanazawa I, Ihara Y, Odani S, Kuwano R. Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese. Genomics 93:441-448, 2009

  19. Iwata A, Nagashima Y, Matsumoto L, Suzuki T, Yamanaka T, Date H, Deoka K, Nukina N, Tsuji S. J Biol Chem 2009:284: 9796-9803.

  20. Kubota, A, Hida, A, Ichikawa, Y, Momose, Y, Goto, J, Igeta, Y, Hashida, H, Yoshida, K, Ikeda, S, Kanazawa, I, and Tsuji, S. A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations. Mov. Disord. 2009;24:441-445.

  21. Mitsui, J, Mizuta, I, Toyoda, A, Ashida, R, Takahashi, Y, Goto, J, Fukuda, Y, Date, H, Iwata, A, Yamamoto, M, Hattori, N, Murata, M, Toda, T and Tsuji, S. Mutations for Gaucher disease confer a high susceptibility to Parkinson disease. Arch Neurol 2009;66:571-6.

  22. Sato, T, Miura, M, Yamada, M, Yoshida, T, Wood, JD, Yazawa, I, Masuda, M, Suzuki, S, Shin, R-M, Yau,H-J, Liu, F-C, Shimohata, T, Onodera, O, Ross, CA, Katsuki, M, Takahashi, H, Kano, M, Aosaki, T and Tsuji, S. Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice. Hum. Mol. Genet. 2009;18:723-736.

富山 弘幸

  1. Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, Watanabe H, Nakamura R, Yoshino H, Yato S, Tamura A, Naito Y, Taniguchi A, Fujita K, Izumi Y, Kaji R, Hattori N, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS). Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol Aging 2012;33:2527.e11-6.

  2. Ando M, Funayama M, Li Y, Kashihara K, Murakami Y, Ishizu N, Toyoda C, Noguchi K, Hashimoto T, Nakano N, Sasaki R, Kokubo Y, Kuzuhara S, Ogaki K, Yamashita C, Yoshino H, Hatano T, Tomiyama H, Hattori N. VPS35 mutation in Japanese patients with typical Parkinson disease. Mov Disord 2012;27:1413-7.

  3. Ogaki K, Li Y, Takanashi M, Ishikawa K, Kobayashi T, Nonaka T, Hasegawa M, Kishi M, Yoshino H, Funayama M, Tsukamoto T, Shioya K, Yokochi M, Imai H, Sasaki R, Kokubo Y, Kuzuhara S, Tomiyama H, Hattori N. Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS. Parkinsonism Relat Disord 2013;19:15-20.

  4. 富山弘幸.パーキンソン病の発症に遺伝子の関与はあるのか?: あなたも名医!パーキンソン病Q&A version 2.日本医事新報 jmed mook第23号 2012;23:17-24.

  5. ○Funayama M, Yoshino H, Li Y, Kusaka H, Tomiyama H, Hattori N. Pseudo-heterozygous rearrangement mutation of parkin. Mov Disord 2012;27:552-5.

  6. ○Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Van Broeckhoven C, Bertram L, Bozi M, Crosiers D, Clarke C, Facheris M, Farrer M, Garraux G, Gispert S, Auburger G, Vilarino-Guell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon B, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore D, Kruger R; On behalf of the GEO-PD Consortium. World-wide replication and heterogeneity in Parkinson disease genetic loci. Neurology 2012;79:659-67.

  7. 舩山学,富山弘幸.パーキンソン病の基礎研究最前線: 実地医家のためのminimum requirement.Modern Physician 新興医学出版社.2012;32(2):201-5.

  8. 富山弘幸.Perry症候群とDCTN1遺伝子変異.Medical Science Digest (MSD) ニューサイエンス社.2012;38(4):2-4(138-140).

  9. ○Kruger R, Sharma M, Riess O, Gasser T, Van Broeckhoven C, Theuns J, Aasly J, Annesi G, Bentivoglio AR, Brice A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Klein C, Lambert JC, Lesage S, Lin JJ, Lynch T, Mellick GD, de Nigris F, Opala G, Prigione A, Quattrone A, Ross OA, Satake W, Silburn PA, Tan EK, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM; for the Genetic Epidemiology of Parkinson's disease consortium. A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease. Neurobiol Aging 2011;32:548.e9-18

  10. ○Ogaki K, Motoi Y, Li Y, Tomiyama H, Shimizu N, Takanashi M, Nakanishi A, Yokoyama K, Hattori N. Visual Grasping in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 (Microtubule-Associated with Protein Tau): A Comparison of 123 I-IMP Brain Perfusion SPECT Analysis with Progressive Supranuclear Palsy. Mov Disord 2011;26:561-3.

  11. Tomiyama H. Axon guidance pathway genes and Parkinson’s disease (Commentary). J Hum Genet 2011;56:102-3.

  12. ○Tomiyama H, Yoshino H, Ogaki K, Li L, Yamashita C, Li Y, Funayama M, Sasaki R, Kokubo Y, Kuzuhara S, Hattori N. PLA2G6 variant in Parkinson’s disease. J Hum Genet 2011;56:401-3.

  13. ○Tomiyama H, Yoshino H, Hattori N. Analysis of PLA2G6 in patients with frontotemporal type of dementia. Parkinsonism Relat Disord 2011;17:493-4.

  14. ○Sharma M, Maraganore DM, Ioannidis JP, Riess O, Aasly JO, Annesi G, Abahuni N, Bentivoglio AR, Brice A, Van Broeckhoven C, Chartier-Harlin MC, Destee A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Gispert S, Hattori N, Jasinska-Myga B, Klein C, Lesage S, Lynch T, Lichtner P, Lambert JC, Lang AE, Mellick GD, Nigris FD, Opala G, Quattrone A, Riva C, Rogaeva E, Ross OA, Satake W, Silburn PA, Theuns J, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Gasser T, Kruger R; Genetic Epidemiology of Parkinson's Disease Consortium. Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease. Neurobiol Aging 2011;32:2108.e1-5.

  15. ○Seki N, Takahashi Y, Tomiyama H, Rogaeva E, Murayama S, Mizuno Y, Hattori N, Marras C, Lang AE, George-Hyslop PS, Goto J, Tsuji S. Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease. J Hum Genet 2011;56:671-5.

  16. Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilarino-Guell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Farrer MJ; on behalf of the Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol 2011;10:898-908.

  17. Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, Pirkevi C, Hamadouche T, Cazeneuve C, Basak AN, Hattori N, Durr A, Tazir M, Orr-Urtreger A, Quintana-Murci L, Brice A. Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Hum Mol Genet 2010;19:1998-2004.

  18. Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice A, Hattori N, Tsuji S. Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines. Am J Hum Genet 2010;87:75-89.

  19. ○Li L, Funayama M, Tomiyama H, Li Y, Yoshino H, Sasaki R, Kokubo Y, Kuzuhara S, Mizuno Y, Hattori N. No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients. Neurosci Lett 2010;479:245-8.

  20. Sekine T, Kagaya H, Funayama M, Li Y, Yoshino H, Tomiyama H, Hattori N. Clinical course of the first Asian family with Parkinsonism related to SNCA triplication. Mov Disord. 2010 Dec 15;25(16):2871-5.

  21. Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori N. Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. Neurology 2010;75:1356-61.

  22. Funayama M, Tomiyama H, Wu RM, Ogaki K, Yoshino H, Mizuno Y, Hattori N. Rapid screening of ATP13A2 variant with high-resolution melting analysis. Mov Disord 2010;25:2434-7

  23. Satake W, Nakabayashi Y, Mizuta I, Hirota Y, Ito C, Kubo M, Kawaguchi T, Tsunoda T, Watanabe M, Takeda A, Tomiyama H, Nakashima K, Hasegawa K, Obata F, Yoshikawa T, Kawakami H, Sakoda S, Yamamoto M, Hattori N, Murata M, Nakamura Y, Toda T. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nature Genet 2010

  24. Pirkevi C, Lesage S, Condroyer C, Tomiyama H, Hattori N, Ertan S, Brice A, Başak AN. ALRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype. Neurogenetics 2009;10:271-3.

  25. Kanai K, Asahina M, Arai K, Tomiyama H, Kuwabara Y, Uchiyama T, Sekiguchi Y, Funayama M, Kuwabara S, Hattori N, Hattori T. Preserved cardiac 123I-MIBG uptake and lack of severe autonomic dysfunction in a PARK9 patient. Mov Disord 2009;24:1403-4.

  26. Tomiyama H, Li Y, Yoshino H, Mizuno Y, Kubo S, Toda T, Hattori N. Mutation analysis for DJ-1 in sporadic and familial parkinsonism: Screening strategy in parkinsonism Neurosci Lett 2009;455:159-61.

  27. 富山弘幸.パーキンソン病の発症に遺伝子の関与はあるのか?: いきなり名医!パーキンソン病 Q&A─押さえておくべきポイント33 日本医事新報 jmed 2009; 04:15-20.

長谷川 成人

  1. ○Tsuji H, Arai T, Kametani F, Nonaka T, Yamashita M, Suzukake M, Hosokawa M, Yoshida M, Hatsuta H, Takao M, Saito Y, Murayama S, Akiyama H, Hasegawa M, Mann DM, Tamaoka A. Molecular analysis and biochemical classification of TDP-43 proteinopathy. Brain 2012,135; 3380?3391.

  2. ○Tsuji H, Nonaka T, Yamashita M, Suzukake M, Kametani F, Akiyama H, Mann DM, Tamaoka A and Hasegawa M. Epitope mapping of antibodies against TDP-43 and detection of protease-resistant fragments of pathological TDP-43 in amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Biochem Biophys Res Commun 2012, 417: 116?121.

  3. ○Nonaka T, Watanabe ST, Iwatsubo T, Hasegawa M. Seeded aggregation and toxicity of alpha-synuclein and tau: cellular models of neurodegenerative diseases. J Biol Chem. 2010, 285:34885-98.

  4. ○Foulds PG, Mitchell JD, Parker A, Turner R, Green G, Diggle P, Hasegawa M, Taylor M, Mann DM, and Allsop D .Phosphorylated α-synuclein can be detected in blood plasma and is potentially a useful biomarker for Parkinson's disease. FASEB J 2011 Dec;25(12):4127-37.

  5. ○Foulds PG, Yokota O, Thurston A, Davidson Y, Ahmed Z, Holton J, Thompson JC, Akiyama H, Arai T, Hasegawa M, Gerhard A, Allsop and Mann DM. Post mortem cerebrospinal fluid α-synuclein levels are raised in multiple system atrophy and distinguish this from the other α-synucleinopathies, Parkinson's disease and Dementia with Lewy bodies. Neurobiol Dis. 2012 Jan;45(1):188-95

  6. ○Hasegawa M, Nonaka T, Tsuji H, Tamaoka A, Yamashita M, Kametani F, Yoshida M, Arai T, Akiyama H. Molecular dissection of TDP-43 proteinopathies. J Mol Neurosc 2011 Nov;45(3):480-5.

  7. ○Nonaka T and Hasegawa M (2011) In vitro recapitulation of aberrant protein inclusions in neurodegenerative diseases, New cellular models of neurodegenerative diseases. Commun & Integ Biol 4, 501-502.

  8. ○Meyerowitz J, Parker SJ, Vella LJ, Ng DCh, Price KA, Liddell JR, Caragounis A, Li QX, Masters CL, Nonaka T, Hasegawa M, Bogoyevitch MA, Kanninen KM, Crouch PJ, White AR. C-Jun N-terminal kinase controls TDP-43 accumulation in stress granules induced by oxidative stress. Mol Neurodegener 2011 Aug 8;6:57.

  9. ○Habuchi C, Iritani S, Sekiguchi H, Torii Y, Ishihara R, Arai T, Hasegawa M, Tsuchiya K, Akiyama H, Shibayama H, Ozaki N. Clinicopathological study of diffuse neurofibrillary tangles with calcification. With special reference to TDP-43 proteinopathy and alpha-synucleinopathy. J Neurol Sci 2011 Feb 15;301(1-2):77-85.

  10. ○Yamaguchi Y, Masuda M, Sasakawa H, Nonaka T, Hanashima S, Hisanaga SI, Kato K, Hasegawa M. Characterization of inhibitor-bound alpha-synuclein dimer: role of alpha-synuclein N-terminal region in dimerization and inhibitor binding. J Mol Biol 2010 Jan 22;395(3):445-56.

  11. ○Foulds PG, Davidson Y, Mishra M, Hobson DJ, Humphreys KM, Taylor M, Johnson N, Weintraub S, Akiyama H, Arai T, Hasegawa M, Bigio EH, Benson FE, Allsop D, Mann DM. Plasma phosphorylated-TDP-43 protein levels correlate with brain pathology in frontotemporal lobar degeneration. Acta Neuropathol 2009 Nov;118(5):647-58.

  12. Nonaka T, Hasegawa M. A Cellular Model To Monitor Proteasome Dysfunction by alpha-Synuclein. Biochemistry 48: 8014-22, 2009.

  13. ○Yamashita M, Nonaka T, Arai T, Kametani F, Buchman VL, Ninkina N, Bachurin SO, Akiyama H, Goedert M, Hasegawa M. Methylene blue and dimebon inhibit aggregation of TDP-43 in cellular models. FEBS Lett 2009;583: 2419-24.

  14. ○Nonaka T, Kametani1 F, Arai T, Akiyama H, Hasegawa M. Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43. Hum Mol Genet 18: 3353-3364, 2009.

  15. Yotsumoto K, Saito T, Asada A, Oikawa T, Kimura T, Uchida C, Ishiguro K, Uchida T, Hasegawa M, Hisanaga SI. Effect of PIN1 or microtubule binding on dephosphorylation of FTDP-17 mutant TAU. J Biol Chem 2009;284: 16840-7.

  16. ○Davidson Y, Amin H, Kelley T, Shi J, Tian J, Kumaran R, Lashley T, Lees AJ, Duplessis D, Neary D, Snowden J, Akiyama H, Arai T, Hasegawa M. Bandopadhyay R, Sikkink S, Pickering-Brown S, Mann DM TDP-43 in ubiquitinated inclusions in the inferior olives in frontotemporal lobar degeneration and in other neurodegenerative diseases: a degenerative process distinct from normal ageing. Acta Neuropathol 2009;118: 359-69.

  17. Yonetani M, Nonaka T, Masuda M, Inukai Y, Oikawa T, Hisanaga SI, Hasegawa M. Conversion of wild-type alpha -synuclein into mutant-type fibrils and its propagation in the presence of A30P mutant. J Biol Chem 2009;284: 7940 -7950.

  18. Masuda M, Hasegawa M#, Nonaka T, Oikawa T, Yonetani M, Yamaguchi Y, Kato K, Hisanaga S, Goedert M. (# corresponding author) Inhibition of alpha-synuclein fibril assembly by small molecules: Analysis using epitope-specific antibodies. FEBS Lett 2009;583:787-791.

  19. ○Schwab C, Arai T, Hasegawa M, Akiyama H, Yu S, McGeer PL. TDP-43 pathology in familial British dementia. Acta Neuropathol 2009,118: 303-11.

  20. ○Kametani F, Nonaka T, Suzuki T, Arai T, Dohmae N, Akiyama H, Hasegawa M. Identification of casein kinase-1 phosphorylation sites on TDP-43. Biochem Biophys Res Commun 2009;382: 405-9.

  21. ○Arai T, Mackenzie IRA, Hasegawa M, Nonaka T, Niizato K, Tsuchiya K, Iritani S, Onaya M, Akiyama H. Phosphorylated TDP-43 in Alzheimer’s disease and dementia with Lewy bodies. Acta Neuropathol 2009;117: 125-136.

  22. ○Nonaka T, Arai T, Buratti E, Baralle FE, Akiyama H, Hasegawa M. Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells. FEBS Lett 2009;583: 394-400.

  23. ○Fujishiro H, Uchikado H, Arai T, Hasegawa M, Akiyama H, Yokota O, Tsuchiya K, Togo T, Iseki E, Hirayasu Y. Accumulation of phosphorylated TDP-43 in brains of patients with argyrophilic grain disease. Acta Neuropathol 2009;117: 151-158.

  24. ○Masuda M, Hasegawa M, Nonaka T, Oikawa T, Yonetani M, Yamaguchi Y, Kato K, Hisanaga S, Goedert M. Inhibition of a-synuclein fibril assembly by small molecules: analysis using epitope-specific antibodies. FEBS Lett 2009;583: 787-91.

  25. ○Nonaka T, Arai T, Buratti E, Baralle FE, Akiyama H, Hasegawa M. Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells. FEBS Lett 2009;583: 394–400.

  26. ○Arai T Mackenzie IR, Hasegawa M, Nonaka T, Niizato K, Tsuchiya K, Iritani S, Onaya M, Akiyama H, Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies Acta Neuropathol. 2009; 117:125-36.

広川佳史

  1. ○Kokubo Y, Taniguchi A, Hasegawa M, Hayakawa Y, Morimoto S, Yoneda M, Hirokawa Y, Shiraishi T, Saito Y, Murayama S, Kuzuhara S.α-Synuclein pathology in the amyotrophic lateral sclerosis/parkinsonism dementia complex in the Kii Peninsula, Japan. J Neuropathol Exp Neurol. 2012, 71(625-630).

  2. ○Kokubo Y, Morimoto S, Shindo A, Hirokawa Y, Shiraishi T, Saito Y, Murayama S, Kuzuhara S.・Cardiac 123I-meta-iodobenzylguanidine scintigraphy and lewy body pathology in a patient with amyotrophic lateral sclerosis and parkinsonism-dementia complex of Kii, Japan.・Mov Disord. 2011・26(2300-2301)

  3. Yoneda M, Hirokawa YS, Ohashi A, Uchida K, Kami D, Watanabe M, Yokoi T, Shiraishi T, Wakusawa S.・RhoB enhances migration and MMP1 expression of prostate cancer DU145.・Exp Mol Pathol. 2010・88(1):90-5.

  4. Kosaka T, Yoshino J, Inui K, Wakabayashi T, Kobayashi T, Watanabe S, Hayashi S, Hirokawa Y, Shiraishi T, Yamamoto T, Tsuji M, Katoh T, Watanabe M.・Involvement of NAD(P)H:quinone   oxidoreductase 1 and superoxide dismutase polymorphisms in ulcerative colitis.・DNA Cell Biol.・2009; 28:625-31.

  5. Lack of involvement of the GNAS1 T393C polymorphism in prostate cancer risk in the Japanese population.、Watanabe M, Hirokawa Y, Shiraishi T.、(他7名、2番目)、Anticancer Res. 2008 Nov-Dec;28(6A):3711-6.

  6. Molecular analysis of multifocal prostate cancer by comparative genomic hybridization. 、Hirokawa Y, Shiraishi T.、(他12名、10番目)、Prostate. 2008 Dec 1;68(16):1715-24.

村山繁雄

  1. Kai H, Shin RW, Ogino K, Hatsuta H, Murayama S, Kitamoto T. Enhanced antigen retrieval of amyloid β immunohistochemistry: re-evaluation of amyloid β pathology in Alzheimer disease and its mouse model. J Histochem Cytochem. 2012 Oct;60(10):761-9.

  2. Saito Y, Inoue T, Zhu G, Kimura N, Okada M, Nishimura M, Kimura N, Murayama S, Kaneko S, Shigemoto R, Imoto K, Suzuki T. Hyperpolarization-activated cyclic nucleotide gated channels: a potential molecular link between epileptic seizures and Aβ generation in Alzheimer's disease. Mol Neurodegener. 2012 Oct 3;7:50.

  3. ◯Tsuji H, Arai T, Kametani F, Nonaka T, Yamashita M, Suzukake M, Hosokawa M, Yoshida M, Hatsuta H, Takao M, Saito Y, Murayama S, Akiyama H, Hasegawa M, David M. A. Mann, Tamaoka A: Molecular analysis and biochemical classificationof TDP-43 proteinopathy Brain 2012 Nov;135(Pt 11):3380-91.

  4. Kakuda N, Akazawa K, Hatsuta H, Murayama S, Ihara Y; The Japanese Alzheimer's Disease Neuroimaging Initiative. Suspected limited efficacy of γ-secretase modulators. Neurobiol Aging. 2013 Apr;34(4):1101-1104.

  5. Murayama S, Saito Y. [Prognosis of amyotrophic lateral sclerosis in relation with pathological pattern of propagation]. Rinsho Shinkeigaku. 2012;52(11):1066-7.

  6. ◯Funabe S, Takao M, Saito Y, Hatsuta H, Sugiyama M, Ito S, Kanemaru K, Sawabe M, Arai T, Mochizuki H, Hattori N, Murayama S: Neuropathologic analysis of Lewy- related alpha- synucleinopathy in olfactory mucosa. Neuropathology in press

  7. ◯Ishiura H, Sako W, Yoshida M, Kawarai T, Tanabe O, Goto J, Takahashi Y, Date H, Mitsui J, Ahsan B, Ichikawa Y, Iwata A, Yoshino H, Izumi Y, Fujita K, Maeda K, Goto S, Koizumi H, Morigaki R, Ikemura M, Yamauchi N, Murayama S, Nicholson GA, Ito H, Sobue G, Nakagawa M, Kaji R, Tsuji S. The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. Am J Hum Genet. 2012; 91(2): 320-9

  8. ◯Kokubo, Y., Morimoto, S., Shindo, A., Hirokawa, Y., Shiraishi, T., Saito, Y., Murayama, S., & Kuzuhara, S. 2011. Cardiac (1)(2)(3)I-meta-iodobenzylguanidine scintigraphy and lewy body pathology in a patient with amyotrophic lateral sclerosis and parkinsonism-dementia complex of Kii, Japan. Mov Disord, 26(12): 2300-2301

  9. Murayama S, Saito Y. [Prognosis of amyotrophic lateral sclerosis in relation with pathological pattern of propagation]. Rinsho Shinkeigaku. 2012;52(11):1066-7.

  10. Murakami, K., Murata, N., Noda, Y., Tahara, S., Kaneko, T., Kinoshita, N., Hatsuta, H., Murayama, S., Barnham, K. J., Irie, K., Shirasawa, T., & Shimizu, T. 2011. SOD1 deficiency drives amyloid beta oligomerization and memory loss in a mouse model of Alzheimer's disease. J Biol Chem.

  11. ◯Seki, N., Takahashi, Y., Tomiyama, H., Rogaeva, E., Murayama, S., Mizuno, Y., Hattori, N., Marras, C., Lang, A. E., George-Hyslop, P. S., Goto, J., & Tsuji, S. 2011. Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease. Journal of human genetics, 56(9): 671-675.

  12. Takamura, A., Kawarabayashi, T., Yokoseki, T., Shibata, M., Morishima-Kawashima, M., Saito, Y., Murayama, S., Ihara, Y., Abe, K., Shoji, M., Michikawa, M., & Matsubara, E. 2011. Dissociation of beta-amyloid from lipoprotein in cerebrospinal fluid from Alzheimer's disease accelerates beta-amyloid-42 assembly. J Neurosci Res, 89(6): 815-821.

  13. Ishibashi K, Saito Y, Murayama S, Kanemaru K, Oda M, Ishiwata K, Mizusawa H, Ishii K: Validation of cardiac 123I-MIBG scintigraphy in patients with Parkinson’s disease who were diagnosed with dopamine PET. Eur J Nucl Med Mol Imaging 2010;37(1):3-11

  14. Akasaka-Manya K, Manya H, Sakurai Y, Wojczyk B, Kozutsumi, Y, Saito Y, Taniguchi N, Murayama S, Spitalnik S, Endo T: Protective effect of N-glycan bisecting GlcNAc residues on b-amyloid production in Alzheimer’s disease. Glycosilation 2010;20(1)99-106

  15. Ishibashi K, Saito Y, Murayama S, Kanemaru K, Oda M, Ishiwata K, Mizusawa H, Ishii K: Validation of cardiac 123I-MIBG scintigraphy in patients with Parkinson’s disease who were diagnosed with dopamine PET. Eur J Nucl Med Mol Imaging 2010 Jan;37(1):3-11.

  16. Akasaka-Manya K, Manya H, Sakurai Y, Wojczyk B, Kozutsumi, Y, Saito Y, Taniguchi N, Murayama S, Spitalnik S, Endo T: Protective effect of N-glycan bisecting GlcNAc residues on β-amyloid production in Alzheimer’s disease. Glycosilation 2010 Jan;20(1):99-106.

  17. Terada T, Tsuboi Y, Obi T, Doh-ura K, Murayama S, Kitamoto T, Yamada T, Mizoguchi K: Less protease-resistant PrP in a patient with sporadic CJD treated with intraventricular pentosan polysulphate. Acta Neurol Scand 2010 Feb;121(2):127-30.

  18. Ishibashi K, Kanemaru K, Saito Y, Murayama S, Oda K, Ishiwata K, Mizusawa H, Ishii K: Cerebrospinal fluid metabolite and nigrostriatal dopaminergic function in Parkinson’s disease. Acta Neurol Scand 2010 Jul;122(1):46-51.

  19. Shishido T, Ikemura M, Obi T, Yamazaki K, Terada T, Sugiura A, Saito Y, Murayama S, Mizoguchi K: α-Synuclein accumulation in skin nerve fibers revealed by skin biopsy in pure autonomic failure. Neurology 2010 Feb 16;74(7):608-10.

  20. Fukuda M, Kanou F, Shimada N, Sawabe M, Saito Y, Murayama S, Hashimoto M, Maruyama N, Ishigami A: Elevated levels of 4-hydroxynonenal-histidine Michael adduct in the hippocampi of patients with Alzheimer’s disease. Biomed Res 2009; 30: 227-233

  21. Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H: Spinocerebellar ataxia type 31 is associated with ‘‘inserted’’ penta-nucleotide repeats containing (TGGAA)n. Am J Hum Gen 2009 Nov;85(5):544-57.

小柳清光

  1. Yoshida K, Asakawa M, Suzuki-Kouyama E, Tabata K, Shintaku M, Ikeda S, Oyanagi K. Distinctive features of degenerating Purkinje cells in spinocerebellar ataxia type 31. Neuropathology In press

  2. Nakahara A, Yoshida T, Yazawa M, Ehara T, Nakayama J, Kakita A, Ogura R, Asakawa M, Suzuki-Kouyama E, Oyanagi K. “Gliomatosis encephali” as s novel category of brain tumor by the first autopsy case report of gliomatosis cerebelli. Neuropathology In press

  3. Ito K, Horiuchi T, Oyanagi K, Nomiyama T, Hongo K. Comparative study of fibrin and chemical synthetic sealant on dural regeneration and brain damage. Neurosurgery In press

  4. Kobayashi Z, Kawakami I, Arai T, Yokota O, Tsuchiya K, Kondo H, Shimomura Y, Haga C, Aoki N, Hasegawa M, Hosokawa M, Oshima K, Niizato K, Ishizu H, Terada S, Onaya M, Ikeda M, Oyanagi K, Nakano I, Murayama S, Akiyama H, Mizusawa H. Pathological features of FTLD-FUS in a Japanese population: analyses of nine cases. J Neurological Sciences 335:89-95, 2013

  5. Mochizuki Y, Isozaki E, Takao M, Hashimoto T, Shibuya M, Arai M, Hosokawa M, Kawata A, Oyanagi K, Mihara B, Mizutani T. Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement. J Neurol Sci 323:85-92, 2012

  6. Hineno A, Nakamura A, Shimojima Y, Yoshida K, Oyanagi K, Ikeda S. Distinctive clinicopathological features of 2 large families with amyotrophic lateral sclerosis having L106V mutation in SOD1 gene. J Neurol Sci 319:63-74, 2012

  7. Kinoshita M, Yoshida K, Oyanagi K, Hashimoto T, Ikeda S. Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R : Case report. J Neurol Sci  318:115-118, 2012

  8. Piao Y, Hashimoto T, Takahama S, Kakita A, Komori T, MoritaT, Takahashi H, Mizutani T, Oyanagi K. Survival motor neuron (SMN) protein in the spinal anterior horn cells of patients with sporadic amyotrophic lateral sclerosis. Brain Res  1327:152-159, 2011

  9. Oyanagi K, Hashimoto T, Yamazaki M. Parkinsonism-dementia complex. In: Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders (Eds: Weller RO, et al) pp171-178, 2011

  10. Oyanagi K, Hashimoto T. Magnesium in Parkinson’s Disease: an update in clinical and basic aspects. In: Magnesium in the Central Nervous System (Eds: Vink B, Nechifor M) University of Adelaide Press, Adelaide. pp229-236, 2011

  11. Ito U, Hakamata Y, Kawakami E, Oyanagi K. Temporary focal cerebral ischemia results in swollen astrocytic end-feet that compress microvessels and lead to focal cortical infarction. J Cereb Blood Flow Metab 31:328-338, 2011

  12. Sunami Y, Koide R, Arai, N, Yamada M, Mizutani T, Oyanagi K. Radiologic and neuropathologic findings in patients in a family with dentatoruburalpallidoluysian atrophy. Am J Neuroradiol 32:109-114, 2011

  13. Shimizu T, Komori T, Kugio Y, Fujimaki Y, Oyanagi K, Hayashi H. Electrophysiological assessment of corticorespiratory pathway function in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis 11:57-62, 2010

  14. Sun L, Kosugi Y, Kawakami E, Piao YS, Hashimoto T, Oyanagi K. Magnesium concentration in the cerebrospinal fluid of mice and its response to changes in serum magnesium concentration. Magnesium Res 11:57-62, 2010