1. Kensaku Kasuga, Masataka Kikuchi, Takayoshi Tokutake, Akihiro Nakaya, Toshiyuki Tezuka, Tamao Tsukie, Norikazu Hara, Akinori Miyashita, Ryozo Kuwano and Takeshi Ikeuchi. Systematic review and meta-analysis of Japanese
   familial Alzheimer’s disease and FTDP-17. Journal of Human Genetics advance online publication, 19 February (2015)
2. Yoshiaki Sato, Francois Bernier, Yasukazu Yamanaka, Ken Aoshima, Yoshiya Oda, Martin Ingelsson, Lars Lannfelt, Akinori Miyashita, Ryozo Kuwano, Takeshi Ikeuchi. Reduced plasma desmosterol-to-cholesterol ratio and longitudinal cognitive decline in Alzheimer's disease. Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 1(1):67-74.(2015)

1. Tagami S, Okochi M, Yanagida K, Kodama T, Arai T, Kuwano R, Ikeuchi T, Takeda M. Relative Ratio and Level of Amyloid-β 42 Surrogate in Cerebrospinal Fluid of Familial Alzheimer Disease Patients with Presenilin 1 Mutations. Neurodegener Dis. 13:166-170. (2014)
2. Konno T, Tada M, Tada M, Koyama A, Nozaki H, Harigaya Y, Nishimiya J, Matsunaga A, Yoshikura N, Ishihara K, Arakawa A, Isami A, Okazaki K, Yokoo H, Itoh K, Yoneda M, Kawamura M, Inuzuka T, Takahashi H, Nishizawa M, Onodera O, Kakita A , Ikeuchi T. Haploinsufficiency of CSF-1R and Clinicopathological Characteriza tion in Patients with HDLS. Neurology. 82:139-148. (2014)
3. Tokutake T, Ishikawa A, Yoshimura N, Miyashita A, Kuwano R, Nisizawa M, Ikeuch i T. Clinical and Neuroimaging Features of Patient with Early-Onset Parkinson's Disease with Dementia Carrying SNCA p.G51D Mutation. Parkinsonism Relat Disord. 20:262-264. (2014)
4. Kasuga K, Konno T, Saito K, Ishihara A, Nishizawa M, Ikeuchi T. A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion. J Neurol. 261:242-244. (2014)
5. Miyashita A, Hatsuta H, Kikuchi M, Nakaya A, Saito Y, Tsukie T, Hara K, Ogishi ma S, Kakita A, Takahashi H, Murayama S, Ihara Y, Ikeuchi T, Kuwano R, Japanese Alzheimer’s Disease Neuroimaging Initiative. Genes associated with the progression of neurofibrillary tangles in Alzheimer’s disease brain. Translationa l Psychiatry (in press)
6. Miyashita A, Wen Y, Kitamura N, Matsubara E, Kawarabayashi T, Shoji M, Tomita N, Arai H, Asada T, Harigaya Y, Ikeda M, Amari M, Hanyu H, Higuchi S, Nishizaw a M, Suga M, Kawase Y, Akatsu H, Imagawa M, Hamaguchi T, Yamada M, Morihara T, Takeda M, Takao T, Nakata K, Sasaki K, Watanabe K, Nakajima K, Urakami K, Ooy a T, Takahashi M, Yuzuriha T, Serikawa K, Yoshimoto S, Nakagawa R, Saito Y, Ha tsuta H, Murayama S, Kakita A, Takahashi H, Yamaguchi H, Akazawa K, Kanazawa I , Ihara Y, Ikeuchi T, Kuwano R, Japanese Alzheimer’s Disease Neuroimaging Initiative. Lack of genetic association between TREM2 and late-onset Alzheimer’s disease in the Japanese population. Journal of Alzheimer’s disease (in press)
7. Kasuga K, Takeuchi R, Takahashi T, Matsubara N, Koike R, Yokoseki A, Nishizawa M. Multifocal hits for propagation of prion protein in sporadic Creutzfeldt-Jakob disease. Neurology Neuroimmunology & Neuroinflammation (in press)

1. Nakaya A, Katayama T, Itoh M, Hiranuka K, Kawashima S, Moriya Y, Okuda S, Tanaka M, Tokimatsu T, Yamanishi Y, Yoshizawa AC, Kanehisa M, Goto S. KEGG OC: a large-scale automatic construction of taxonomy-based ortholog clusters. Nucleic Acids Res. 41:D353-D357. (2013)
2. Wen Y, Miyashita A, Kitamura N, Tsukie T, Saito Y, Hatsuta H, Murayama S, Kakita A, Takahashi H, Akatsu H, Yamamoto T, Kosaka K, Yamaguchi H, Akazawa K, Ihara Y, Kuwano R; and Japanese Alzheimer's Disease Neuroimaging Initiative. SORL1 is genetically associated with neuropathologically characterized late-onset Alzheimer's disease. J Alzheimers Dis. 35:387-394. (2013)
3. Ogishima S, Mizuno S, Kikuchi M, Miyashita A, Kuwano R, Tanaka H, Nakaya J. A map of Alzheimer disease signalling pathways: a hope for drug target discovery. Clin Pharmacol Ther. 93:399-401. (2013)
4. Miyashita A, Koike A, Jun G, Wang LS, Takahashi S, Matsubara E, Kawarabayashi T, Shoji M, Tomita N, Arai H, Asada T, Harigaya Y, Ikeda M, Amari M, Hanyu H, Higuchi S, Ikeuchi T, Nishizawa M, Suga M, Kawase Y, Akatsu H, Kosaka K, Yamamoto T, Imagawa M, Hamaguchi T, Yamada M, Morihara T, Takeda M, Takao T, Nakata K, Fujisawa Y, Sasaki K, Watanabe K, Nakashima K, Urakami K, Ooya T, Takahashi M, Yuzuriha T, Serikawa K, Yoshimoto S, Nakagawa R, Kim JW, Ki CS, Won HH, Na DL, Seo SW, Mook-Jung I, The Alzheimer Disease Genetics Consortium, George-Hyslop PS, Mayeux R, Haines JL, Pericak-Vance MA, Yoshida M, Nishida N, Tokunaga K, Yamamoto K, Tsuji S, Kanazawa I, Ihara Y, Schellenberg GD, Farrer LA, Kuwano R. SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. PLoS One. 8:e58618 (2013)
5. Ikeda M, Yonemura K, Kakuda S, Tashiro Y, Fujita Y, Takai E, Hashimoto Y, Makioka K, Furuta N, Ishiguro K, Maruki R, Yoshida J, Miyaguchi O, Tsukie T, Kuwano R, Yamazaki T, Yamaguchi H, Amari M, Takatama M, Harigaya Y, Okamoto K. Cerebrospinal fluid levels of phosphorylated tau and Aβ1-38/Aβ1-40/Aβ1-42 in Alzheimer's disease with PS1 mutations. Amyloid. 20:107-112. (2013)
6. Li GD, Kawashima H, Ogose A, Ariizumi T, Hotta T, Kuwano R, Urata Y, Fujiwara T, Endo N. Telomelysin shows potent antitumor activity through apoptotic and non-apoptotic cell death in soft tissue sarcoma cells. Cancer Sci.104:1178-1188. (2013)
7. Multiple-System Atrophy Research Collaboration. Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med. 369:233-244. (2013)
8. Shimizu H, Toyoshima Y, Shiga A, Yokoseki A, Arakawa K, Sekine Y, Shimohata T, Ikeuchi T, Nishizawa M, Kakita A, Onodera O, Takahashi H. Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene. Acta Neuropathol. 126:453-459. (2013)
9. Riku Y, Ikeuchi T, Yoshino H, Mimuro M, Mano K, Goto Y, Hattori N, Sobue G, Yoshida M. Extensive aggregation of α-synuclein and tau in juvenile-onset neuro axonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site. Acta Neuropathologica Communications. 1:12. (2013)
10. Kikuchi M, Ogishima S, Miyamoto T, Miyashita A, Kuwano R, Nakaya J, Tanaka H. Identification of unstable network modules reveals disease modules associated with the progression of Alzheimer's disease. PLoS One. 8:e76162. (2013)

1. Kakuda N, Shoji M, Arai H, Furukawa K, Ikeuchi T, Akazawa K, Takami M, Hatsuta H, Murayama S, Hashimoto Y, Miyajima M, Arai H, Nagashima Y, Yamaguchi H, Kuwano R, Nagaike K, Ihara Y; the Japanese Alzheimer's Disease Neuroimaging Initiative. Altered γ-secretase activity in mild cognitive impairment and Alzheimer's disease. EMBO Mol Med. 4:344-352. (2012)
2. Mizuno S, Iijima R, Ogishima S, Kikuchi M, Matsuoka Y, Ghosh S, Miyamoto T, Miyashita A, Kuwano R, Tanaka H. AlzPathway: a comprehensive map of signaling pathways of Alzheimer's disease. BMC Syst Biol. 6:52. (2012)
3. Nakaya A, Isobe SN. Will genomic selection be a practical method for plant breeding? Ann Bot. 110:1303-1316. (2012)
4. Shirasawa K, Koilkonda P, Aoki K, Hirakawa H, Tabata S, Watanabe M, Hasegawa M, Kiyoshima H, Suzuki S, Kuwata C, Naito Y, Kuboyama T, Nakaya A, Sasamoto S, Watanabe A, Kato M, Kawashima K, Kishida Y, Kohara M, Kurabayashi A, Takahashi C, Tsuruoka H, Wada T, Isobe S. SIn silico polymorphism analysis for the development of simple sequence repeat and transposon markers and construction of linkage map in cultivated peanut. BMC Plant Biol. 12:80. (2012)
5. Shiga A, Ishihara T, Miyashita A, Kuwabara M, Kato T, Watanabe N, Yamahira A, Kondo C, Yokoseki A, Takahashi M, Kuwano R, Kakita A, Nishizawa M, Takahashi H, Onodera O. Alteration of POLDIP3 Splicing Associated with Loss of Function of TDP-43 in Tissues Affected with ALS. PLoS One. 7:e43120. (2012)
6. Otowa T, Kawamura Y, Nishida N, Sugaya N, Koike A, Yoshida E, Inoue K, Yasuda S, Nishimura Y, Liu X, Konishi Y, Nishimura F, Shimada T, Kuwabara H, Tochigi M, Kakiuchi C, Umekage T, Miyagawa T, Miyashita A, Shimizu E, Akiyoshi J, Someya T, Kato T, Yoshikawa T, Kuwano R, Kasai K, Kato N, Kaiya H, Tokunaga K, Okazaki Y, Tanii H, Sasaki T. Meta-analysis of genome-wide association studies for panic disorder in the Japanese population. Transl Psychiatry. 2:e186. (2012)

1. Ikeuchi T, Imamura T, Kawase Y, Kitade Y, Tsuchiya M, Tokutake T, Kasuga K, Yajima R, Tsukie T, Miyashita A, Sugishita M, Kuwano R, Nishizawa M. Evidence for a Common Founder and Clinical Characteristics of Japanese Families with the MAPT R406W Mutation. Dement Geriatr Cogn Disord Extra. 1:267-275. (2011)
2. Kawamura Y, Otowa T, Koike A, Sugaya N, Yoshida E, Yasuda S, Inoue K, Takei K, Konishi Y, Tanii H, Shimada T, Tochigi M, Kakiuchi C, Umekage T, Liu X, Nishida N, Tokunaga K, Kuwano R, Okazaki Y, Kaiya H, Sasaki T. A genome-wide CNV association study on panic disorder in a Japanese population. J Hum Genet. 56:852-856. (2011)
3. Komatsu J, Ono K, Yanase D, Samuraki M, Shima K, Kuwano R, Matsunari I, Yamada M. Imaging Findings of Familial Dementia with a Tau R406W Mutation. Acta Neurol. Belg. 111:374-375. (2011)

1. Hara K, Kokubo Y, Ishiura H, Fukuda Y, Miyashita A, Kuwano R, Sasaki R, Goto J, Nishizawa M, Kuzuhara S, Tsuji S. TRPM7 Is Not Associated With Amyotrophic Lateral Sclerosis-Parkinsonism Dementia Complex in the Kii Peninsula of Japan. Am J Med Genet Part B. 153B:310-313. (2010)
2. Fu YJ, Nishihira Y, Kuroda S, Toyoshima Y, Ishihara T, Shinozaki M, Miyashita A, Piao YS, Tan CF, Tani T, Koike R, Iwanaga K, Tsujihata M, Onodera O, Kuwano R, Nishizawa M, Kakita A, Ikeuchi T, Takahashi H. Sporadic four-repeat tauopathy with frontotemporal lobar degeneration, Parkinsonism, and motor neuron disease: a distinct clinicopathological and biochemical disease entity. Acta Neuropathol. 120:21-32. (2010)
3. Adachi T, Saito Y, Hatsuta H, Funabe S, Tokumaru AM, Ishii K, Arai T, Sawabe M, Kanemaru K, Miyashita A, Kuwano R, Nakashima K, Murayama S. Neuropathological Asymmetry in Argyrophilic Grain Disease. J Neuropathol Exp Neurol. 69:737-744. (2010)
4. Maksimova N, Hara K, Nikolaeva I, Chun-Feng T, Usui T, Takagi M, Nishihira Y, Miyashita A, Fujiwara H, Oyama T, Nogovicina A, Sukhomyasova A, Potapova S, Kuwano R, Takahashi H, Nishizawa M, Onodera O. Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly. J Med Genet. 47:538-548. (2010)
5. Koshy B, Miyashita A, St Jean P, Stirnadel H, Kaise T, Rubio JP, Mooser V, Kuwano R, Irizarry MC. Genetic deficiency of plasma lipoprotein-associated phospholipase A2 (PLA2G7 V297F null mutation) and risk of Alzheimer's disease in Japan. J Alzheimers Dis. 21:775-780. (2010)
6. Adachi S, Tajima A, Quan J, Haino K, Yoshihara K, Masuzaki H, Katabuchi H, Ikuma K, Suginami H, Nishida N, Kuwano R, Okazaki Y, Kawamura Y, Sasaki T, Tokunaga K, Inoue I, Tanaka K. Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population. J Hum Genet. 55:816-821. (2010)
7. Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, Ishihara N, Yamada Y, Kuwano R, Tsuji S, Wakamatsu N. A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC Med Genet. 11:171. (2010)

■和文

[2014]

1. 森 啓，東海林幹夫，池田将樹，池内 健，岩坪 威，嶋田裕之. Dominantly Inherited Alzheimer’s Network (DIAN) 研究について. Dementia Japan. 2014, 28:116-12.
2. 池内 健，春日健作，宮下哲典．家族性アルツハイマー病．「神経症候学�U」日本臨床. 2014, 27:7-11.
3. 春日健作，池内 健．認知症への対応．整形外科．2014, 65(8):895-901.

[2013]

1. 桑野良三, 原範和. アルツハイマー病のパーソナルゲノム解析. BRAIN and NERVE. 2013, 65(3):235-246.
2. 桑野良三, 月江珠緒. アルツハイマー病診断における遺伝子・バイオマーカーの意義. 日本認知症学会誌. 2013, 27(3):334-343.
3. 宮下哲典, 桑野良三. 疾患感受性遺伝子からみたAlzheimer病の病態機序. 医学のあゆみ. 2013, 247(5):451-456.
4. 池内 健. アルツハイマー病の根本治療の実現に向けて. 新潟県医師会報 2013, 761:2-6.
5. 温雅楠. 晩期発症型アルツハイマー病とSORL1のゲノム関連解析. 新潟医学会雑誌. 2013, 127(11):605-619.

[2012]

1. 久徳 弓子, 宮崎 裕子, 山下 陽三, 桑野 良三, 村上 龍文, 砂田 芳秀. 健忘症状で気づかれた17番染色体に連鎖したタウ遺伝子変異による家族性前頭側頭型認知症パーキンソニズムの1家系. 臨床神経学. 2012, 52(2):73-78..
2. 桑野良三. アルツハイマー病関連遺伝子探索の進展と問題点. Dementia Japan. 2012, 26(2):145-154.

[2011]

1. 桑野良三, 宮下哲典. Apolipoprotein E 遺伝子. 日本臨床. 2011, 69(増刊号8):93-97.
2. 桑野良三, 宮下哲典, 月江珠緒. 検査診断学とバイオマーカー：概論. 日本臨床. 2011, 69(増刊号8):476-483.
3. 宮下哲典, 桑野良三. 遺伝子診断とイメージング・ジェネティクス. 日本臨床. 2011, 69(増刊号8):565-569.
4. 宮下哲典, 桑野良三. 認知症のイメージングゲノミクス. 別冊・医学のあゆみ. 2011, 57-61.

[2010]

1. 宮下哲典, 桑野良三. 認知症性疾患の遺伝子と病態・認知症の遺伝子異常. 神経内科（特別増刊号：認知症診療マニュアル）. 2010, 72(Suppl.6):40-45.
2. 桑野良三. アルツハイマー病の遺伝子解析. Pharma Medica. 2010, 28(7):61-65.
3. 宮下哲典, 桑野良三. 認知症のイメージングゲノミクス. 医学のあゆみ. 2010, 235(6):663-667.