『徳島大学 教育・研究者情報データベース (EDB)』---[学外] /
〔閲覧〕【著作】
--- テーブル「著作」（著作（著書，論文，レター，国際会議など））は研究業績にかかる著作（著書，論文，レター，国際会議など）を登録するテーブルです．
登録情報
抽出条件
| PERM= |  瓦井 俊孝
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登録情報の数
有効な情報: 229件 + 無効な情報: 15件 = 全ての情報: 244件
全ての有効な情報 (229件)
条件追加
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抽出結果のリスト
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排列順: 項目表示: Toshitaka Kawarai, H Kawakami, K Kozuka, Y Izumi, Z Matsuyama, C Watanabe, T Kohriyama and S Nakamura : A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G., Neurology, Vol.49, No.2, 598-600, 1997..[著者] ... (種別) : Toshitaka Kawarai, H Kawakami, Y Yamamura and S Nakamura : Structure and organization of the gene encoding human dopamine transporter., Gene, Vol.195, No.1, 11-18, (発行所), (都市), Aug. 1997..[著者] ... Q Y Song, E Rogaeva, S Premkumar, N Brindle, Toshitaka Kawarai, A Orlacchio, G Yu, G Levesque, M Nishimura, M Ikeda, Y Pei, C O'Toole, R Duara, W Barker, S Sorbi, M Freedman, L Farrer and P George-Hyslop St : Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE., Neuroscience Letters, Vol.250, No.3, 189-192, 1998..[著者] ... E Rogaeva, S Premkumar, Y Song, S Sorbi, N Brindle, A Paterson, R Duara, G Levesque, G Yu, M Nishimura, M Ikeda, C O'Toole, Toshitaka Kawarai, R Jorge, D Vilarino, C A Bruni, A L Farrer and H George-Hyslop P St : Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity., JAMA, Vol.280, No.7, 614-618, 1998..[著者] ... T Mitsuoka, 瓦井 俊孝, C Watanabe, S Katayama, S Nakamura : [Comparison of clinical pictures of mitochondrial encephalomyopathy with tRNA(Leu(UUR)) mutation in 3243 with that in 3254]., 脳と神経, Vol.50, No.12, 1089-1092, 1998年..[著者] ... M Nishimura, G Yu, G Levesque, M D Zhang, L Ruel, F Chen, P Milman, E Holmes, Y Liang, Toshitaka Kawarai, E Jo, A Supala, E Rogaeva, M D Xu, C Janus, L Levesque, Q Bi, M Duthie, R Rozmahel, K Mattila, L Lannfelt, D Westaway, T H Mount, J Woodgett and P George-Hyslop St : Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex., Nature Medicine, Vol.5, No.2, 164-169, 1999..[著者] ... T Torii, Toshitaka Kawarai, S Nakamura and H Kawakami : Organization of the human orphan nuclear receptor Nurr1 gene., Gene, Vol.230, No.2, 225-232, 1999..[著者] ... A E Rogaeva, S Premkumar, J Grubber, L Serneels, K W Scott, Toshitaka Kawarai, Y Song, L D Hill, M S Abou-Donia, R E Martin, J J Vance, G Yu, A Orlacchio, Y Pei, M Nishimura, A Supala, B Roberge, M A Saunders, D A Roses, D Schmechel, A Crane-Gatherum, S Sorbi, A Bruni, W G Small, M P Conneally, L J Haines, F Leuven Van, H George-Hyslop P St, A L Farrer and A M Pericak-Vance : An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease., Nature Genetics, Vol.22, No.1, 19-22, 1999..[著者] ... G Yu, F Chen, M Nishimura, H Steiner, A Tandon, Toshitaka Kawarai, S Arawaka, A Supala, Q Y Song, E Rogaeva, E Holmes, M D Zhang, P Milman, P Fraser, C Haass and P George-Hyslop St : Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes., Acta Neurologica Scandinavica. Supplementum, Vol.176, (号), 6-11, 2000..[著者] ... A Kertesz, Toshitaka Kawarai, E Rogaeva, P George-Hyslop St, P Poorkaj, D T Bird and G D Munoz : Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions., Neurology, Vol.54, No.4, 818-827, 2000..[著者] ... H Morino, Toshitaka Kawarai, Yuishin Izumi, T Kazuta, M Oda, O Komure, F Udaka, M Kameyama, S Nakamura and H Kawakami : A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease., Annals of Neurology, Vol.47, No.4, 528-531, 2000..[著者] ... A Orlacchio, Toshitaka Kawarai, M A Massaro, H George-Hyslop P St and S Sorbi : Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees., Neuroscience Letters, Vol.285, No.2, 83-86, 2000..[著者] ... G Yu, F Chen, M Nishimura, H Steiner, A Tandon, Toshitaka Kawarai, S Arawaka, A Supala, Q Y Song, E Rogaeva, E Holmes, M D Zhang, P Milman, E P Fraser, C Haass and S P George-Hyslop : Mutation of conserved aspartates affects maturation of both aspartate mutant and endogenous presenilin 1 and presenilin 2 complexes., The Journal of Biological Chemistry, Vol.275, No.35, 27348-27353, 2000..[著者] ... G Yu, M Nishimura, S Arawaka, D Levitan, L Zhang, A Tandon, Q Y Song, E Rogaeva, F Chen, Toshitaka Kawarai, A Supala, L Levesque, H Yu, S D Yang, E Holmes, P Milman, Y Liang, M D Zhang, H D Xu, C Sato, E Rogaev, M Smith, C Janus, Y Zhang, R Aebersold, S L Farrer, S Sorbi, A Bruni, P Fraser and P George-Hyslop St : Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing., Nature, Vol.407, No.6800, 48-54, 2000..[著者] ... M D Zhang, D Levitan, G Yu, M Nishimura, F Chen, A Tandon, Toshitaka Kawarai, S Arawaka, A Supala, Q Y Song, E Rogaeva, Y Liang, E Holmes, P Milman, C Sato, L Zhang and P George-Hyslop St : Mutation of the conserved N-terminal cysteine (Cys92) of human presenilin 1 causes increased A beta42 secretion in mammalian cells but impaired Notch/lin-12 signalling in C. elegans., NeuroReport, Vol.11, No.14, 3227-3230, 2000..[著者] ... F Chen, S D Yang, S Petanceska, A Yang, A Tandon, G Yu, R Rozmahel, J Ghiso, M Nishimura, M D Zhang, Toshitaka Kawarai, G Levesque, J Mills, L Levesque, Q Y Song, E Rogaeva, D Westaway, H Mount, S Gandy, P George-Hyslop St and E P Fraser : Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells., The Journal of Biological Chemistry, Vol.275, No.47, 36794-36802, 2000..[著者] ... F C Lippa, V Zhukareva, Toshitaka Kawarai, K Uryu, M Shafiq, E L Nee, J Grafman, Y Liang, H George-Hyslop P St, Q J Trojanowski and M V Lee : Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation., Annals of Neurology, Vol.48, No.6, 850-858, 2000..[著者] ... F Chen, G Yu, S Arawaka, M Nishimura, Toshitaka Kawarai, H Yu, A Tandon, A Supala, Q Y Song, E Rogaeva, P Milman, C Sato, C Yu, C Janus, J Lee, L Song, L Zhang, E P Fraser and H George-Hyslop P St : Nicastrin binds to membrane-tethered Notch., Nature Cell Biology, Vol.3, No.8, 751-754, 2001..[著者] ... M Nicolaou, Q Y Song, A C Sato, A Orlacchio, Toshitaka Kawarai, H Medeiros, Y Liang, S Sorbi, E Richard, I E Rogaev, Y Moliaka, C A Bruni, R Jorge, M Percy, R Duara, A L Farrer, P Georg-Hyslop St and A E Rogaeva : Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease., Neurogenetics, Vol.3, No.4, 203-206, 2001..[著者] ... S E Athan, J Williamson, A Ciappa, V Santana, N S Romas, H J Lee, H Rondon, A R Lantigua, M Medrano, M Torres, S Arawaka, E Rogaeva, Q Y Song, C Sato, Toshitaka Kawarai, C K Fafel, A M Boss, K W Seltzer, Y Stern, P George-Hyslop St, B Tycko and R Mayeux : A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families., JAMA, Vol.286, No.18, 2257-2263, 2001..[著者] ... Antonio Orlacchio, Toshitaka Kawarai, Eleonora Paciotti, Alessandro Stefani, Aldo Orlacchio, Sandro Sorbi, H George-Hyslop Peter St and Giorgio Bernardi : Association study of the 5-hydroxytryptamine(6) receptor gene in Alzheimer's disease., Neuroscience Letters, Vol.325, No.1, 13-16, 2002..[著者] ... M S A Curcio, Toshitaka Kawarai, D A Paterson, G R Maletta, G Puccio, M Perri, M Natale Di, S Palermo, J-F Foncin, George P H St Hyslop and C A Bruni : A large Calabrian kindred segregating frontotemporal dementia., Journal of Neurology, Vol.249, No.7, 911-922, 2002..[著者] ... (種別) : A Orlacchio, Toshitaka Kawarai, E Rogaeva, Q Y Song, D A Paterson, G Bernardi and H George-Hyslop P St : Clinical and genetic study of a large Italian family linked to SPG12 locus., Neurology, Vol.59, No.9, 1395-1401, (発行所), (都市), Nov. 2002..[著者] ... Antonio Orlacchio, Toshitaka Kawarai, Mario Polidoro, Alessandro Stefani, Aldo Orlacchio, H George-Hyslop Peter St and Giorgio Bernardi : Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms., Neuroscience Letters, Vol.333, No.2, 115-118, 2002..[著者] ... Yongjun Gu, Fusheng Chen, Nobuo Sanjo, Toshitaka Kawarai, Hiroshi Hasegawa, Monica Duthie, Wenping Li, Xueying Ruan, Anchla Luthra, J Howard T Mount, Anurag Tandon, E Paul Fraser and Peter George-Hyslop St : APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes., The Journal of Biological Chemistry, Vol.278, No.9, 7374-7380, 2002..[著者] ... Manuela Natale Di, Maria Perri, Toshitaka Kawarai, Raffaele Maletta, Carmine Tomaino, Christine Sato, Benedetta Nacmias, Nobuto Shibata, Sandro Sorbi, H George-Hyslop Peter St, C Amalia Bruni and Ekaterina Rogaeva : Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population., Neuroscience Letters, Vol.343, No.3, 210-212, 2003..[著者] ... Anurag Tandon, Haung Yu, Linda Wang, Ekaterina Rogaeva, Christine Sato, Azhar M Chishti, Toshitaka Kawarai, Hiroshi Hasegawa, Fusheng Chen, Peter Davies, E Paul Fraser, David Westaway and H George-Hyslop Peter St : Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles., Journal of Neurochemistry, Vol.86, No.3, 572-581, 2003..[著者] ... Galit Kleiner-Fisman, Ekaterina Rogaeva, William Halliday, Sylvain Houle, Toshitaka Kawarai, Christine Sato, Helena Medeiros, H George-Hyslop Peter St and E Anthony Lang : Benign hereditary chorea: clinical, genetic, and pathological findings., Annals of Neurology, Vol.54, No.2, 244-247, 2003..[著者] ... E Rogaeva, C Bergeron, C Sato, I Moliaka, Toshitaka Kawarai, A Toulina, Y-Q Song, T Kolesnikova, A Orlacchio, G Bernardi and H George-Hyslop P St : PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier., Neurology, Vol.61, No.7, 1005-1007, 2003..[著者] ... Yongjun Gu, Nobuo Sanjo, Fusheng Chen, Hiroshi Hasegawa, Agnes Petit, Xueying Ruan, Wenping Li, Cortney Shier, Toshitaka Kawarai, Gerold Schmitt-Ulms, David Westaway, Peter George-Hyslop St and E Paul Fraser : The presenilin proteins are components of multiple membrane-bound complexes that have different biological activities., The Journal of Biological Chemistry, Vol.279, No.30, 31329-31336, 2004..[著者] ... A Orlacchio, F Gaudiello, A Totaro, R Floris, H George-Hyslop P St, G Bernardi and Toshitaka Kawarai : A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts., Neurology, Vol.62, No.10, 1875-1878, 2004..[著者] ... Antonio Orlacchio, Toshitaka Kawarai, Antonio Totaro, Alessia Errico, H George-Hyslop Peter St, I Elena Rugarli and Giorgio Bernardi : Hereditary spastic paraplegia: clinical genetic study of 15 families., Archives of Neurology, Vol.61, No.6, 849-855, 2004..[著者] ... Antonio Orlacchio, Toshitaka Kawarai, Mario Polidoro, D Andrew Paterson, Ekaterina Rogaeva, Aldo Orlacchio, H George-Hyslop Peter St and Giorgio Bernardi : Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene., Neuroscience Letters, Vol.363, No.1, 49-53, 2004..[著者] ... Janel Johnson, Jovanka Ostojic, Lars Lannfelt, Anna Glaser, Hans Basun, Ekaterina Rogaeva, Toshitaka Kawarai, Amalia Bruni, H George Hyslop Peter St, Alison Goate, Pau Pastor, Sumi Chakraverty, Joanne Norton, C John Morris, John Hardy and Andrew Singleton : No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found., Neuroscience Letters, Vol.363, No.2, 99-101, 2004..[著者] ... A Cheryl Luis, W Warren Barker, A David Loewenstein, A Thomas Crum, Ekaterina Rogaeva, Toshitaka Kawarai, Peter George-Hyslop St and Ranjan Duara : Conversion to dementia among two groups with cognitive impairment. A preliminary report., Dementia and Geriatric Cognitive Disorders, Vol.18, No.3-4, 307-313, 2004..[著者] ... Hiroshi Hasegawa, Nobuo Sanjo, Fusheng Chen, Yong-Jun Gu, Cortney Shier, Agnes Petit, Toshitaka Kawarai, Taiichi Katayama, D Stephen Schmidt, M Paul Mathews, Gerold Schmitt-Ulms, E Paul Fraser and Peter George-Hyslop St : Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes., The Journal of Biological Chemistry, Vol.279, No.45, 46455-46463, 2004..[著者] ... H J Lee, R Mayeux, D Mayo, J Mo, V Santana, J Williamson, A Flaquer, A Ciappa, H Rondon, P Estevez, R Lantigua, Toshitaka Kawarai, A Toulina, M Medrano, M Torres, Y Stern, B Tycko, E Rogaeva, P George-Hyslop St and A J Knowles : Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics., Molecular Psychiatry, Vol.9, No.11, 1042-1051, 2004..[著者] ... Ekaterina Rogaeva, Janel Johnson, E Anthony Lang, Cindy Gulick, Katrina Gwinn-Hardy, Toshitaka Kawarai, Christine Sato, Angharad Morgan, John Werner, Robert Nussbaum, Agnes Petit, S Michael Okun, Aideen McInerney, Ronald Mandel, L Justus Groen, H Hubert Fernandez, Ron Postuma, D Kelly Foote, Shabnam Salehi-Rad, Yan Liang, Sharon Reimsnider, Anurag Tandon, John Hardy, Peter George-Hyslop St and B Andrew Singleton : Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease., Archives of Neurology, Vol.61, No.12, 1898-1904, 2004..[著者] ... C A Bruni, Toshitaka Kawarai, G M Spillantini, H Hyslop P St-George, A Leotta, S Lio, J-F Foncin and H Hachimi K El : [Familial fronto-temporal dementia with brain stem ubiquitin-positive neuronal inclusions]., Revue Neurologique, Vol.160, No.12, 1171-1179, 2004..[著者] ... L Justus Groen, Toshitaka Kawarai, Anna Toulina, Chiara Rivoiro, Shabnam Salehi-Rad, Christine Sato, Angharad Morgan, Yan Liang, B Ronald Postuma, Peter George-Hyslop St, E Anthony Lang and Ekaterina Rogaeva : Genetic association study of PINK1 coding polymorphisms in Parkinson's disease., Neuroscience Letters, Vol.372, No.3, 226-229, 2004..[著者] ... Masaki Ikeda, Mikio Shoji, Toshitaka Kawarai, Takeshi Kawarabayashi, Etsuro Matsubara, Tetsuro Murakami, Atsushi Sasaki, Yasushi Tomidokoro, Yasushi Ikarashi, Hisashi Kuribara, Koichi Ishiguro, Masato Hasegawa, Shu-Hui Yen, Azhar M Chishti, Yasuo Harigaya, Koji Abe, Koichi Okamoto, Peter George-Hyslop St and David Westaway : Accumulation of filamentous tau in the cerebral cortex of human tau R406W transgenic mice., The American Journal of Pathology, Vol.166, No.2, 521-531, 2005..[著者] ... Christine Sato, Angharad Morgan, E Anthony Lang, Shabnam Salehi-Rad, Toshitaka Kawarai, Yan Meng, N Peter Ray, A Lindsay Farrer, Peter George-Hyslop St and Ekaterina Rogaeva : Analysis of the glucocerebrosidase gene in Parkinson's disease., Movement Disorders, Vol.20, No.3, 367-370, 2005..[著者] ... Raphaëlle Pardossi-Piquard, Agnès Petit, Toshitaka Kawarai, Claire Sunyach, Cristine da Costa Alves, Bruno Vincent, Sabine Ring, Luciano D'Adamio, Jie Shen, Ulrike Müller, Peter George Hyslop St and Frédéric Checler : Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betaAPP and APLP., Neuron, Vol.46, No.4, 541-554, 2005..[著者] ... M Moonis, M J Swearer, E M P Dayaw, P George-Hyslop St, E Rogaeva, Toshitaka Kawarai and A D Pollen : Familial Alzheimer disease: decreases in CSF Abeta42 levels precede cognitive decline., Neurology, Vol.65, No.2, 323-325, 2005..[著者] ... Antonio Orlacchio, Toshitaka Kawarai, Fabrizio Gaudiello, Antonio Totaro, Orazio Schillaci, Alessandro Stefani, Roberto Floris, H George-Hyslop Peter St, Sandro Sorbi and Giorgio Bernardi : Clinical and genetic study of a large SPG4 Italian family., Movement Disorders, Vol.20, No.8, 1055-1059, 2005..[著者] ... Agnes Petit, Toshitaka Kawarai, Erwan Paitel, Nobuo Sanjo, Mary Maj, Michael Scheid, Fusheng Chen, Yongjun Gu, Hiroshi Hasegawa, Shabnam Salehi-Rad, Linda Wang, Ekaterina Rogaeva, Paul Fraser, Brian Robinson, Peter George-Hyslop St and Anurag Tandon : Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations., The Journal of Biological Chemistry, Vol.280, No.40, 34025-34032, 2005..[著者] ... Antonio Orlacchio, Toshitaka Kawarai, Fabrizio Gaudiello, H George-Hyslop Peter St, Roberto Floris and Giorgio Bernardi : New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1., Annals of Neurology, Vol.58, No.3, 423-429, 2005..[著者] ... Nobuto Shibata, Toshitaka Kawarai, H Joseph Lee, Hye-Seung Lee, Eri Shibata, Christine Sato, Yan Liang, Rajan Duara, P Richard Mayeux, H George-Hyslop Peter St and Ekaterina Rogaeva : Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease., Neuroscience Letters, Vol.391, No.3, 142-146, 2005..[著者] ... C Paisán-Ruíz, E A Lang, Toshitaka Kawarai, C Sato, S Salehi-Rad, K G Fisman, T Al-Khairallah, P George-Hyslop St, A Singleton and E Rogaeva : LRRK2 gene in Parkinson disease: mutation analysis and case control association study., Neurology, Vol.65, No.5, 696-700, 2005..[著者] ... Ekaterina Rogaeva, Toshitaka Kawarai and St Peter George-Hyslop : Genetic complexity of Alzheimer's disease: successes and challenges., Journal of Alzheimer's Disease : JAD, Vol.9, No.3 Suppl, 381-387, 2006..[著者] ... Parastoo Momeni, Ekaterina Rogaeva, Vivianna Deerlin Van, Wuxing Yuan, Jordan Grafman, Michael Tierney, Edward Huey, Jason Bell, M Chris Morris, N Rajesh Kalaria, J Rensburg Susan van, Dana Niehaus, Felix Potocnik, Toshitaka Kawarai, Shabnam Salehi-Rad, Christine Sato, Peter George-Hyslop St and John Hardy : Genetic variability in CHMP2B and frontotemporal dementia., Neuro-degenerative Diseases, Vol.3, No.3, 129-133, 2006..[著者] ... P Renato Munhoz, Toshitaka Kawarai, A Helio Teive, Salmo Raskin, Christine Sato, Yan Liang, H George-Hyslop Peter St and Ekaterina Rogaeva : Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)., Movement Disorders, Vol.21, No.2, 279-281, 2006..[著者] ... Julie Dunys, Toshitaka Kawarai, Sherwin Wilk, Peter George-Hyslop St, Cristine da Costa Alves and Frédéric Checler : Catabolism of endogenous and overexpressed APH1a and PEN2: evidence for artifactual involvement of the proteasome in the degradation of overexpressed proteins., The Biochemical Journal, Vol.394, No.Pt 2, 501-509, 2006..[著者] ... Fusheng Chen, Hiroshi Hasegawa, Gerold Schmitt-Ulms, Toshitaka Kawarai, Christopher Bohm, Taiichi Katayama, Yongjun Gu, Nobuo Sanjo, Michael Glista, Ekaterina Rogaeva, Yosuke Wakutani, Raphaëlle Pardossi-Piquard, Xueying Ruan, Anurag Tandon, Frédéric Checler, Philippe Marambaud, Kirk Hansen, David Westaway, Peter George-Hyslop St and Paul Fraser : TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity., Nature, Vol.440, No.7088, 1208-1212, 2006..[著者] ... L Bernardi, G R Maletta, C Tomaino, N Smirne, M Natale Di, M Perri, T Longo, R Colao, M S A Curcio, G Puccio, M Mirabelli, Toshitaka Kawarai, E Rogaeva, H George Hyslop P St, G Passarino, G Benedictis De and C A Bruni : The effects of APOE and tau gene variability on risk of frontotemporal dementia., Neurobiology of Aging, Vol.27, No.5, 702-709, 2006..[著者] ... Cristine da Costa Alves, Claire Sunyach, Raphaelle Pardossi-Piquard, Jean Sévalle, Bruno Vincent, Nicole Boyer, Toshitaka Kawarai, Nadège Girardot, Peter George-Hyslop St and Frédéric Checler : Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease., The Journal of Neuroscience, Vol.26, No.23, 6377-6385, 2006..[著者] ... Ekaterina Rogaeva, Cindy Zadikoff, Jonathan Ponesse, Gerold Schmitt-Ulms, Toshitaka Kawarai, Christine Sato, Shabnam Salehi-Rad, Peter George-Hyslop St and E Anthony Lang : Childhood onset in familial prion disease with a novel mutation in the PRNP gene., Archives of Neurology, Vol.63, No.7, 1016-1021, 2006..[著者] ... Nobuto Shibata, Toshitaka Kawarai, Yan Meng, H Joseph Lee, Hye-Seung Lee, Yosuke Wakutani, Eri Shibata, Nazia Pathan, Andrew Bi, Christine Sato, Sandro Sorbi, C Amalia Bruni, Ranjan Duara, Richard Mayeux, A Lindsay Farrer, St Peter George-Hyslop and Ekaterina Rogaeva : Association studies between the plasmin genes and late-onset Alzheimer's disease., Neurobiology of Aging, Vol.28, No.7, 1041-1043, 2006..[著者] ... Satoshi Kaneko, Toshitaka Kawarai, Edwin Yip, Shabnam Salehi-Rad, Christine Sato, Antonio Orlacchio, Giorgio Bernardi, Yan Liang, Hiroshi Hasegawa, Ekaterina Rogaeva and Peter George-Hyslop St : Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia., Movement Disorders, Vol.21, No.9, 1531-1533, 2006..[著者] ... Tetsuro Murakami, Erwan Paitel, Takeshi Kawarabayashi, Masaki Ikeda, Azhar M Chishti, Christopher Janus, Etsuro Matsubara, Atsushi Sasaki, Toshitaka Kawarai, L Amie Phinney, Yasuo Harigaya, Patrick Horne, Nobuaki Egashira, Kenichi Mishima, Amanda Hanna, Jing Yang, Katsunori Iwasaki, Mitsuo Takahashi, Michihiro Fujiwara, Koichi Ishiguro, Catherine Bergeron, A George Carlson, Koji Abe, David Westaway, Peter George-Hyslop St and Mikio Shoji : Cortical neuronal and glial pathology in TgTauP301L transgenic mice: neuronal degeneration, memory disturbance, and phenotypic variation., The American Journal of Pathology, Vol.169, No.4, 1365-1375, 2006..[著者] ... H Joseph Lee, Rong Cheng, Vincent Santana, Jennifer Williamson, Rafael Lantigua, Martin Medrano, Alex Arriaga, Yaakov Stern, Benjamin Tycko, Ekaterina Rogaeva, Yosuke Wakutani, Toshitaka Kawarai, Peter George-Hyslop St and Richard Mayeux : Expanded genomewide scan implicates a novel locus at 3q28 among Caribbean hispanics with familial Alzheimer disease., Archives of Neurology, Vol.63, No.11, 1591-1598, 2006..[著者] ... Naoki Saji, Nobuaki Yamamoto, Junko Yoda, Makoto Tadano, Hiroshi Yamasaki, Hirotaka Shimizu, 瓦井 俊孝, Yasushi Kita : [Adult case of acute encephalopathy associated with bilateral thalamic lesions and peripheral neuropathy]., 脳と神経, Vol.58, No.11, 1009-1014, 2006年..[著者] ... Julie Dunys, Toshitaka Kawarai, Emilie Giaime, Sherwin Wilk, M Herrant, P Auberger, Peter George-Hyslop St, Cristine da Costa Alves and Frédéric Checler : Study on the putative contribution of caspases and the proteasome to the degradation of Aph-1a and Pen-2., Neuro-degenerative Diseases, Vol.4, No.2-3, 156-163, 2007..[著者] ... Ekaterina Rogaeva, Yan Meng, H Joseph Lee, Yongjun Gu, Toshitaka Kawarai, Fanggeng Zou, Taiichi Katayama, T Clinton Baldwin, Rong Cheng, Hiroshi Hasegawa, Fusheng Chen, Nobuto Shibata, L Kathryn Lunetta, Raphaelle Pardossi-Piquard, Christopher Bohm, Yosuke Wakutani, Adrienne L Cupples, T Karen Cuenco, C Robert Green, Lorenzo Pinessi, Innocenzo Rainero, Sandro Sorbi, Amalia Bruni, Ranjan Duara, P Robert Friedland, Rivka Inzelberg, Wolfgang Hampe, Hideaki Bujo, You-Qiang Song, M Olav Andersen, E Thomas Willnow, Neill Graff-Radford, C Ronald Petersen, Dennis Dickson, D Sandy Der, E Paul Fraser, Gerold Schmitt-Ulms, Steven Younkin, Richard Mayeux, A Lindsay Farrer and Peter George-Hyslop St : The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease., Nature Genetics, Vol.39, No.2, 168-177, 2007..[著者] ... Julie Dunys, Toshitaka Kawarai, Jean Sevalle, Virginia Dolcini, St Peter George-Hyslop, Alves Costa Cristine Da and Frédéric Checler : p53-Dependent Aph-1 and Pen-2 anti-apoptotic phenotype requires the integrity of the gamma-secretase complex but is independent of its activity., The Journal of Biological Chemistry, Vol.282, No.14, 10516-10525, 2007..[著者] ... Antonio Orlacchio, Paolo Calabresi, Adriana Rum, Anna Tarzia, Maria Anna Salvati, Toshitaka Kawarai, Alessandro Stefani, Antonio Pisani, Giorgio Bernardi, Paolo Cianciulli and Patrizia Caprari : Neuroacanthocytosis associated with a defect of the 4.1R membrane protein., BMC Neurology, Vol.7, (号), (頁), 2007..[著者] ... Raphaëlle Pardossi-Piquard, Julie Dunys, Toshitaka Kawarai, Claire Sunyach, Cristine da Costa Alves, Bruno Vincent, Jean Sévalle, Sanjay Pimplikar, Peter George-Hyslop St and Frédéric Checler : Response to correspondence: Pardossi-Piquard et al., "Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betAAPP and APLP." Neuron 46, 541-554., Neuron, Vol.53, No.4, 483-486, 2007..[著者] ... Masaru Matsui, Toshitaka Kawarai, Yoshiki Hase, Hidekazu Tomimoto, Kazumi Iseki, Ekaterina Rogaeva, Antonio Orlacchio, Giorgio Bernardi, Peter George-Hyslop St, Ryosuke Takahashi and Makoto Matsui : A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia., Journal of Neurology, Vol.254, No.7, 972-974, 2007..[著者] ... Shangxi Xiao, Christine Sato, Toshitaka Kawarai, F Emily Goodall, S Hardev Pall, H Lorne Zinman, Janice Robertson, Karen Morrison and Ekaterina Rogaeva : Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis., Neurobiology of Aging, Vol.29, No.8, 1279-1282, 2007..[著者] ... (種別) : Naoki Saji, Toshitaka Kawarai, Makoto Tadano, Hirotaka Shimizu, Yasushi Kita, Keiichiro Susuki and Takashi Kanbayashi : Does CSF hypocretin-1 decrease in Bickerstaff's brainstem encephalitis?, Clinical Neurology and Neurosurgery, Vol.109, No.6, 547-548, (発行所), (都市), March 2007..[著者] ... C A Bruni, P Momeni, L Bernardi, C Tomaino, F Frangipane, J Elder, Toshitaka Kawarai, C Sato, S Pradella, Y Wakutani, M Anfossi, M Gallo, S Geracitano, A Costanzo, N Smirne, M S A Curcio, M Mirabelli, G Puccio, R Colao, G R Maletta, A Kertesz, P George-Hyslop St, J Hardy and E Rogaeva : Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation., Neurology, Vol.69, No.2, 140-147, 2007..[著者] ... Toshitaka Kawarai, Hirotake Nishimura, Koichiro Taniguchi, Naoki Saji, Hirotaka Shimizu, Makoto Tadano, Teruo Shirabe and Yasushi Kita : Magnetic resonance imaging of biceps femoris muscles in benign acute childhood myositis., Archives of Neurology, Vol.64, No.8, 1200-1201, 2007..[著者] ... Frédéric Checler, Claire Sunyach, Raphaelle Pardossi-Piquard, Jean Sévalle, Bruno Vincent, Toshitaka Kawarai, Nadège Girardot, Peter George-Hyslop St and Alves Costa Cristine da : The gamma/epsilon-secretase-derived APP intracellular domain fragments regulate p53., Current Alzheimer Research, Vol.4, No.4, 423-426, Sep. 2007..[著者] ... H Joseph Lee, Sandra Barral, Rong Cheng, Inara Chacon, Vincent Santana, Jennifer Williamson, Rafael Lantigua, Martin Medrano, Z Ivonne Jimenez-Velazquez, Yaakov Stern, Benjamin Tycko, Ekaterina Rogaeva, Yosuke Wakutani, Toshitaka Kawarai, Peter George-Hyslop St and Richard Mayeux : Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease., Neurogenetics, Vol.9, No.1, 51-60, 2007..[著者] ... A Orlacchio, C Patrono, A Borreca, C Babalini, G Bernardi and Toshitaka Kawarai : Spastic paraplegia in Romania: high prevalence of SPG4 mutations., Journal of Neurology, Neurosurgery, and Psychiatry, Vol.79, No.5, 606-607, 2007..[著者] ... Naoki Saji, Kouichiro Taniguchi, Makoto Tadano, Hirotaka Shimizu, 瓦井 俊孝, Yasushi Kita : [A case of brainstem encephalitis following multiple cranial neuropathy in a hepatocellular carcinoma patient--association with cytomegalovirus and varicella-zoster virus infection]., 脳と神経 - 神経研究の進歩, Vol.59, No.11, 1273-1279, 2007年..[著者] ... A Orlacchio, C Patrono, F Gaudiello, C Rocchi, V Moschella, R Floris, G Bernardi and Toshitaka Kawarai : Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4., Neurology, Vol.70, No.21, 1959-1966, 2008..[著者] ... Antonio Orlacchio, N Ian Bruce, Proton Rahman, Toshitaka Kawarai, Giorgio Bernardi, H George-Hyslop Peter St, D Dafna Gladman and B Murray Urowitz : The apolipoprotein E2 isoform is associated with accelerated onset of coronary artery disease in systemic lupus erythematosus., Medical Science Monitor, Vol.14, No.5, CR233-237, 2008..[著者] ... T Pippucci, E Panza, E Pompilii, V Donadio, A Borreca, C Babalini, C Patrono, R Zuntini, Toshitaka Kawarai, G Bernardi, R Liguori, G Romeo, P Montagna, A Orlacchio and M Seri : Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity., European Journal of Neurology, Vol.16, No.1, 121-126, 2009..[著者] ... Toshitaka Kawarai, Reiko Tsuda, Naoki Saji, Makoto Tadano, Hirotaka Shimizu and Yasushi Kita : Isolated trochlear nerve palsy due to a contusion at the trochlear nerve exit zone., European Neurology, Vol.62, No.4, (頁), 2009..[著者] ... (種別) : Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, Roberto Massa, Sarenur Basaran, P Renato Munhoz, A Ekaterina Rogaeva, H George-Hyslop Peter St, Giorgio Bernardi and Toshitaka Kawarai : SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis., Brain, Vol.133, No.Pt 2, 591-598, (発行所), (都市), Jan. 2010..[著者] ... Hirotaka Shimizu, Toshitaka Kawarai, Naoki Saji, Makoto Tadano, Yasushi Kita, Masayasu Tabuchi and Koichi Yokono : Re-evaluation of clinical features and risk factors of acute ischemic stroke in Japanese longevity society., The Kobe Journal of Medical Sciences, Vol.55, No.6, E132-9, 2010..[著者] ... Naoki Saji, Junko Yoda, Makoto Tadano, Hirotaka Shimizu, Toshitaka Kawarai, Yasushi Kita, Naokazu Miyamoto, Yasutomo Azumi, Mitsuharu Nakamoto and Koichi Yokono : Elderly case of Dieulafoy's lesion in the jejunum presenting with repeated hemorrhagic shocks., Geriatrics & Gerontology International, Vol.10, No.3, 267-268, 2010..[著者] ... Naoki Saji, Hirotaka Shimizu, Toshitaka Kawarai, Makoto Tadano, Yasushi Kita and Koichi Yokono : Clinical features of a first-ever lacunar infarction in Japanese patients: poor outcome in females., Journal of Stroke & Cerebrovascular Diseases, Vol.20, No.3, 231-235, 2010..[著者] ... Hirotaka Shimizu, Nobuyuki Oka, Toshitaka Kawarai, Koichiro Taniguchi, Naoki Saji, Makoto Tadano, Giorgio Bernardi, Antonio Orlacchio and Yasushi Kita : Late-onset CMT2 associated with a novel missense mutation in the cytoplasmic domain of the MPZ gene., Clinical Neurology and Neurosurgery, Vol.112, No.9, 798-800, 2010..[著者] ... Naoki Saji, Takashi Ichiyama, Makoto Tadano, Hirotaka Shimizu, Toshitaka Kawarai, Yasushi Kita and Koichi Yokono : Elderly case of prolonged hypoglycemic coma presenting with reversible magnetic resonance imaging changes., Geriatrics & Gerontology International, Vol.10, No.4, 331-333, 2010..[著者] ... Naoki Saji, Makoto Tadano, Hirotaka Shimizu, 瓦井 俊孝, Yasushi Kita : [Isolated oral syndrome resulting from thalamic lacunar infarction]., 脳と神経 - 神経研究の進歩, Vol.62, No.10, 1094-1095, 2010年..[著者] ... (種別) : Antonio Orlacchio, Pasqua Montieri, Carla Babalini, Fabrizio Gaudiello, Giorgio Bernardi and Toshitaka Kawarai : Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation., Journal of Neurology, (巻), (号), (頁), (発行所), (都市), Feb. 2011..[著者] ... Toshitaka Kawarai, Reiko Tsuda, Koichiro Taniguchi, Naoki Saji, Makoto Tadano, Hirotaka Shimizu, Yasushi Kita and Takeshi Ishimoto : Spinal myoclonus resulting from intrathecal administration of human neural stem cells., Movement Disorders, 2011..[著者] ... Naoki Saji, Hirotaka Shimizu, Toshitaka Kawarai, Makoto Tadano, Yasushi Kita and Koichi Yokono : Increased brachial-ankle pulse wave velocity is independently associated with white matter hyperintensities., Neuroepidemiology, Vol.36, No.4, 252-257, 2011..[著者] ... 森垣 龍馬, 瓦井 俊孝, 中瀧 理仁, 伊賀 淳一, 佐光 亘, 溝渕 佳史, 永廣 信治, 後藤 惠, 梶 龍兒 : X-linked dystonia-parkinsonism患者の臨床症状の検討, 機能的脳神経外科, Vol.50, 150-153, 2011年..[著者] ... 宮﨑 由道, 中村 和己, 佐藤 健太, 鎌田 正紀, 瓦井 俊孝, 和泉 唯信, 梶 龍兒, 出口 一志, 石川 欽也, 水澤 英洋 : 家族性脊髄小脳変性症(SCA15)の1家系, 臨床神経学, Vol.52, No.6, 450, 2012年(0月)..[著者] ... 瓦井 俊孝 : 新規運動ニューロン病の原因遺伝子OPTNとTFGの発見, 平成23∼25年度 厚生労働科学研究費補助金(難治性疾患克服研究事業) 神経変性疾患に関する調査研究班 (分担)研究報告書, (都市), 2012年3月..[著者] ... 瓦井 俊孝, 佐治 直樹, 寺澤 英夫, 清水 洋孝, 喜多 也寸志, 田嶋 敦, 井本 逸勢, 和泉 唯信, 梶 龍兒 : 精神発育遅滞を伴う家族性小脳変性症の臨床遺伝学的研究, 第53回日本神経学会学術大会, (巻), (号), (頁), 2012年5月..[著者] ... Ryosuke Miyamoto, Etsuro Ohta, Toshitaka Kawarai, Hidetaka Koizumi, Wataru Sako, Yuishin Izumi, Fumiya Obata and Ryuji Kaji : Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion., Movement Disorders, Vol.27, No.10, 1324-1325, 2012..[著者] ... 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, A Garth Nicholson, Hidefumi Ito, Gen Sobue, Masanori Nakagawa, Ryuji Kaji and Shoji Tsuji : The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement., American Journal of Human Genetics, Vol.91, No.2, 320-329, 2012..[著者] ... Saji Naoki, Kimura Kazumi, Toshitaka Kawarai, Shimizu Hirotaka and Kita Yaushi : Arterial stiffness and progressive neurological deficit in patients with acute deep subcortical infarction, Stroke, Vol.43, No.11, 3088-3090, 2012..[著者] ... 瓦井 俊孝, 佐治 直樹, 寺澤 英夫, 清水 洋孝, 喜多 也寸志, 田嶋 敦, 井本 逸勢, 和泉 唯信, 梶 龍兒 : 精神発育遅滞を伴う家族性小脳変性症の臨床遺伝学的研究の具体的事例, 難病と在宅ケア, Vol.18, No.8, 45-47, 2012年..[著者] ... Toshitaka Kawarai, Mitsuya Morita, Ryoma Morigaki, Koji Fujita, Hiroyuki Nodera, Yuishin Izumi, Satoshi Goto, Imaharu Nakano and Ryuji Kaji : Pathomechanisms of motor neuron death by mutant TFG., Clinical Neurology, Vol.23, No.11, 1199, (month)2013..[著者] ... 牟礼 英生, 森垣 龍馬, 大北 真哉, 後藤 惠, 永廣 信治, 小泉 英貴, 瓦井 俊孝, 梶 龍兒 : 両側視床Vo核刺激が奏功したDYT6の一例, 第52回日本定位・機能神経外科学会, 2013年1月..[著者] ... 森垣 龍馬, 中瀧 理仁, 伊賀 淳一, 瓦井 俊孝, 牟礼 英生, 溝渕 佳史, 大北 真哉, 大森 哲郎, 永廣 信治, 後藤 惠, 梶 龍兒 : X-linked dystonia-parkinsonismのうつ症状, 第52回日本定位・機能神経外科学会, 2013年1月..[著者] ... Toshitaka Kawarai, Pasco Matthew D. Paul, Teleg A. Rosalia, Masaki Kamada, Sakai Waka, Komei Shimozono, Makoto Mizuguchi, Tabuena Daisy, Orlacchio Antonio, Yuishin Izumi, Satoshi Goto, Lee V. Lillian and Ryuji Kaji : Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism, Neurogenetics, Vol.14, No.2, 167-169, 2013..[著者] ... 瓦井 俊孝 : HMSN-P原因遺伝子であるTFGの培養細胞を用いた機能解析, 平成24年度 厚生労働科学研究補助金 難治性疾患克服研究事業(難治性疾患克服研究事業) 神経変性疾患に関する調査研究班(分担)研究報告書, (都市), 2013年3月..[著者] ... Miyashiro Ai, Sugihara Katsunobu, Toshitaka Kawarai, Miyamoto Ryosuke, Yuishin Izumi, Morino Hiroyuki, Maruyama Hirofumi, Orlacchio Antonio, Kawakami Hideshi and Ryuji Kaji : Oromandibular dystonia associated with SCA36, Movement Disorders, Vol.28, No.4, 558-559, 2013..[著者] ... 瓦井 俊孝 : 近位筋優位遺伝性運動感覚ニューロパチーの分子病態機序, 神経内科, Vol.79, No.6, 751-756, 2013年4月..[著者] ... 瓦井 俊孝 : 近位筋優位運動感覚ニューロパチーの臨床的特徴, 神経内科, Vol.79, No.6, 732-737, 2013年4月..[著者] ... 瓦井 俊孝 : 遺伝子 DYT6-日本での症例, 診断と治療社, (都市), 2013年4月..[著者] ... 瓦井 俊孝 : 神経疾患, Harrison's Principal Internal Medicine 4th edition, 2013年4月..[著者] ... Toshitaka Kawarai : Genetics of dystonia, DYSTONIA: A CLINICIANS GUIDE TO DIAGNOSIS, PATHOPHYSIOLOGY AND TREATMENT, 2013..[著者] ... Satoshi Goto, Toshitaka Kawarai, Ryoma Morigaki, Shinya Okita, Hidetaka Koizumi, Shinji Nagahiro, L Edwin Munoz, V Lillian Lee and Ryuji Kaji : Defects in the striatal neuropeptide Y system in X-linked dystonia-parkinsonism., Brain, Vol.136, No.Pt 5, 1555-1567, 2013..[著者] ... 瓦井 俊孝 : TFG変異による運動ニューロン死のメカニズム, 第54回日本神経学会学術大会, 2013年5月..[著者] ... Ryoma Morigaki, Masahito Nakataki, Toshitaka Kawarai, Lillian V. Lee, Rosalia A. Teleg, Ma Daisy P. Tabuena, Hideo Mure, Wataru Sako, Paul Matthew D. Pasco, Shinji Nagahiro, Junichi Iga, Tetsuro Ohmori, Satoshi Goto and Ryuji Kaji : Depression in X-linked dystonia-parkinsonism:A case-control study, Parkinsonism & Related Disorders, Vol.19, No.9, 844-846, 2013..[著者] ... 梶 龍兒, 浅沼 光太郎, 瓦井 俊孝, 宮﨑 由道, 森垣 龍馬, 後藤 惠, 目崎 高広, 太田 悦朗, 小幡 文弥, 豊島 至, 藤本 健一, 野村 哲志, 中島 健二, 坂本 崇, 佐藤 健太, 平 孝臣, 横地 房子, 小林 一太, 片山 容一, 小林 武夫, 石毛 美代子, 松本 英之, 宇川 義一, 玉川 聡, 辻 貞俊, 堀内 正浩, 長谷川 一子 : ジストニアのすべて―最新の治療指針, 株式会社 診断と治療社, 東京, 2013年5月..[著者] ... 瓦井 俊孝, 宮本 亮介, 村上 永尚, 小泉 英貴, 小泉 英貴, 佐光 亘, 向井 洋平, 佐藤 健太, 松本 真一, 坂本 崇, 和泉 唯信, 梶 龍兒 : ジストニア遺伝子とその機能解明, 臨床神経学, Vol.53, No.6, 419-429, 2013年6月..[著者] ... Toshio Inui, Toshitaka Kawarai, Koji Fujita, Kazuyuki Kawamura, Takao Mitsui, Antonio Orlacchio, Masaki Kamada, Takashi Abe, Yuishin Izumi and Ryuji Kaji : A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis., Journal of the Neurological Sciences, 2013..[著者] ... Yuka Terasawa, Yusuke Osaki, Toshitaka Kawarai, Tatsurou Sugimoto, Antonio Orlacchio, Takashi Abe, Yuishin Izumi and Ryuji Kaji : Increasing and persistent DWI changes in a patient with Hereditary Diffuse Leukoencephalopathy with Spheroids., Journal of the Neurological Sciences, 2013..[著者] ... Roberto Tiribuzi, Lucia Crispoltoni, Serena Porcellati, Martina Lullo Di, Fulvio Florenzano, Matteo Pirro, Francesco Bagaglia, Toshitaka Kawarai, Mauro Zampolini, Aldo Orlacchio and Antonio Orlacchio : miR128 up-regulation correlates with impaired amyloid (1-42) degradation in monocytes from patients with sporadic Alzheimer's disease., Neurobiology of Aging, Vol.35, No.2, 345-356, 2013..[著者] ... Ryosuke Miyamoto, Hidetaka Koizumi, Hiroyuki Morino, Toshitaka Kawarai, Hirofumi Maruyama, Yohei Mukai, Ai Miyashiro, Wataru Sako, Yuishin Izumi, Hideshi Kawakami and Ryuji Kaji : DYT6 in Japan-genetic screening and clinical characteristics of the patients., Movement Disorders, Vol.29, No.2, 278-280, 2013..[著者] ... 森垣 龍馬, 瓦井 俊孝, 大北 真哉, 牟礼 英生, 小泉 英貴, 溝渕 佳史, 永廣 信治, 梶 龍兒, 後藤 惠 : X-linked dystonia-parkinsonismのニューロペプチドYシステム, 機能的脳神経外科, Vol.53, 47-55, 2014年..[著者] ... 宮﨑 由道, 瓦井 俊孝, 中村 和己, 大崎 裕亮, 野寺 裕之, 和泉 唯信, 梶 龍兒 : 家族性脊髄小脳変性症(SCA15)に対する反復経頭蓋磁気刺激の治療効果, 臨床神経生理学, Vol.42, No.5, 329, 2014年(0月)..[著者] ... 瓦井 俊孝, 武内 俊明, 宮本 亮介, 宮﨑 由道, 梶 龍兒 : 【神経症候群(第2版)-その他の神経疾患を含めて-】 変性疾患 錐体外路系疾患 不随意運動を主とする疾患 ジストニア症候群 一次性遺伝性ジストニア 発作性ジストニア DYT9ジストニア(発作性舞踏アテトーシス・痙性対麻痺:CSE)，DYT18ジストニア(発作性運動誘発性ジスキネジア:PED), 日本臨牀, 255-257, 2014年(0月)..[著者] ... 森垣 龍馬, 小泉 英貴, 牟礼 英生, 大北 真哉, 溝渕 佳史, 永廣 信治, 梶 龍兒, 後藤 惠, 瓦井 俊孝 : X-linked dystonia-parkinsonismのニューロペプタイドYシステム, 第53回日本定位・機能神経外科学会, 2014年2月..[著者] ... R Kishore Kumar, Katja Lohmann, Ikuo Masuho, Ryosuke Miyamoto, Andreas Ferbert, Thora Lohnau, Meike Kasten, Johann Hagenah, Norbert Brüggemann, Julia Graf, Alexander Münchau, S Vladimir Kostic, M Carolyn Sue, R Aloysius Domingo, L Raymond Rosales, V Lilian Lee, Karen Freimann, Ana Westenberger, Youhei Mukai, Toshitaka Kawarai, Ryuji Kaji, Christine Klein, A Kirill Martemyanov and Alexander Schmidt : Mutations in GNAL: A Novel Cause of Craniocervical Dystonia., JAMA Neurology, 2014..[著者] ... 瓦井 俊孝 : DYT8ジストニア(発作性非運動誘発性ジスキネジア1:PNKD1)，DYT20ジストニア(PNKD2), 日本臨牀, (都市), 2014年3月..[著者] ... 瓦井 俊孝 : DYT9ジストニア(発作性舞踏アテトーシス・痙性麻痺:CSE)，DYT18ジストニア(発作性労作誘発性ジスキネジア:PED), (発行所), (都市), 2014年3月..[著者] ... 瓦井 俊孝 : DYT10ジストニア(反復性もしくは発作性運動起源性ジスキネジア1:EKD1 or PKD1)，DYT19ジストニア(EKD2 or PKD2), (発行所), (都市), 2014年3月..[著者] ... 瓦井 俊孝 : ALS患者におけるTFG変異のスクリーニングと機能解析, 平成25年度 厚生労働科学研究費補助金(難治性疾患克服研究事業)神経変性疾患に関する調査研究班 (分担)研究報告書, (都市), 2014年3月..[著者] ... 瓦井 俊孝 : 症候 意識障害・失神, (発行所), (都市), 2014年4月..[著者] ... Temistocle Giudice Lo, Federica Lombardi, Maria Filippo Santorelli, Toshitaka Kawarai and Antonio Orlacchio : Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms., Experimental Neurology, Vol.261C, 518-539, 2014..[著者] ... 大崎 裕亮, 藤田 浩司, 瓦井 俊孝, 寺澤 由佳, 乾 俊夫, 阿部 考志 : 年単位で持続する大脳白質の拡散強調画像高信号, 脳神経外科速報, Vol.24, No.9, 980-986, 2014年..[著者] ... Laura Carosi, Temistocle Giudice Lo, Martina Lullo Di, Federica Lombardi, Carla Babalini, Fabrizio Gaudiello, Alessandra Girolama Marfia, Roberto Massa, Toshitaka Kawarai and Antonio Orlacchio : Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10., Journal of Neurology, Neurosurgery, and Psychiatry, (巻), (号), (頁), 2014..[著者] ... Hideo Mure, Ryoma Morigaki, Hidetaka Koizumi, Shinya Okita, Toshitaka Kawarai, Ryosuke Miyamoto, Ryuji Kaji, Shinji Nagahiro and Satoshi Goto : Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6 dystonia., Stereotactic and Functional Neurosurgery, Vol.92, No.6, 393-396, 2014..[著者] ... 宮﨑 由道, 宮本 亮介, 小泉 英貴, 瓦井 俊孝, 梶 龍兒 : 若年発症全身性捻転ジストニアにおけるゾルピデム内服治療の有効性, ジストニアの分子病態解明と新規治療法開発に関する研究班(平成26年度), 29-30, 東京, 2015年(0月)..[著者] ... 瓦井 俊孝 : 新規運動ニューロン病遺伝子TFGの機能解析, ブレインサイエンス・レビュー2015, 79-90, (都市), 2015年(0月)..[著者] ... Naoki Saji, Kazumi Kimura, Yoshiki Yagita, Toshitaka Kawarai, Hirotaka Shimizu and Yasushi Kita : Comparison of arteriosclerotic indicators in patients with ischemic stroke: ankle-brachial index, brachial-ankle pulse wave velocity and cardio-ankle vascular index., Hypertension Research, (巻), (号), (頁), 2015..[著者] ... Oki Ryosuke, Kaji Seiji, Osaki Ryosuke, Ryosuke Miyamoto, Nobuaki Yamamoto, Fujita Koji, Toshitaka Kawarai, Yuishin Izumi and Ryuji Kaji : Clinical feature of hereditary diffuse leukoencephalopathy with spheroids (HDLS) in Japan., The 40th Annual Meeting of the Japan Stroke Society., March 2015..[著者] ... 瓦井 俊孝, 森垣 龍馬, 沖 良祐, 後藤 惠, 梶 龍兒 : ALSとTFG, 科学評論社, (都市), 2015年4月..[著者] ... Naoki Saji, Toshitaka Kawarai, Ryosuke Miyamoto, Takahiro Sato, Hiroyuki Morino, Antonio Orlacchio, Ryosuke Oki, Kazumi Kimura and Ryuji Kaji : Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations., Journal of the Neurological Sciences, Vol.352, No.1-2, 29-33, 2015..[著者] ... Kaji Seiji, Ryosuke Miyamoto, Osaki Yusuke, Hiroyuki Nodera, Toshitaka Kawarai, Yuishin Izumi and Ryuji Kaji : Late-Onset Spastic Paraplegia Type 10 (SPG10) Family Presenting with Bulbar Symptoms - Primary Lateral Sclerosis (PLS) Mimic., The 67th AAN Annual Meeting of American Anademy of Neurology, (都市), April 2015..[著者] ... Takashi Abe, Toshitaka Kawarai, Obama Y, Irahara I, Kaji Seiji, Ryosuke Miyamoto, Sakai Waka, Tsukamoto-Miyashiro Ai, Naoko Matsui, Yuishin Izumi, Ryuji Kaji and Masafumi Harada : Retrospective review of MRI and MRS findings in hereditary diffuse leukoencephalopathy with spheroids and elderly asymptomatic carrier of causative gene, colony stimulating factor-1 receptor: a single institution study., ASNR 53rd Annual Meeting & The Foundation of the ASNR Symposium, (都市), April 2015..[著者] ... Takashi Abe, Toshitaka Kawarai, 小濵 祐樹, 苛原 早保, 梶 誠司 and Ryosuke Miyamoto : Retrospective review of MRS findings in HDLS and in elderly asymptomatic carriers of a causative gene, CSF-1R: a single institution study, (誌名), (巻), (号), (頁), (都市), April 2015..[著者] ... Konno Takuya, Yoshida Kunihiro, Mizuno Toshiki, Toshitaka Kawarai, Tada Masayoshi, Isami Aiko, Nozaki Hiroaki, Ikeda Shu-ichi, Nishizawa Masatoyo, Onodera Osamu and Ikeuchi Takeshi : Diagnostic criteria for hereditary diffuse leukoencephalopathy with spheroids., 56th Annual Meeting of the Japanese Society of Neurology, May 2015..[著者] ... Toshitaka Kawarai, Ryosuke Miyamoto, Tamura Asako, Takashi Abe, Funakoshi Yasuhiro, Orlacchio Antonio, Oki Ryosuke, Hideo Mure, Ryoma Morigaki, Satoshi Goto, Yuishin Izumi, Naito Hiroshi, Tomimoto Hidekazu and Ryuji Kaji : Germline mosaicism of TUBB4A mutation causes dystonia in two siblings., 56th Annual Meeting of the Japanese Society of Neurology, May 2015..[著者] ... Kaji Seiji, Toshitaka Kawarai, Oki Ryosuke, Osaki Yusuke, Ryosuke Miyamoto, Wataru Sako, Yuishin Izumi and Ryuji Kaji : Hereditary Diffuse Leukoencephalopathy with Spheroids: A Hidden Culprit., 56th Annual Meeting of the Japanese Society of Neurology, May 2015..[著者] ... Ryosuke Miyamoto, Toshitaka Kawarai, Oki Ryosuke, Kaji Seiji, Yoshimichi Miyazaki, Yuishin Izumi and Ryuji Kaji : A Japanses family of hereditary geniospasm (chin trembling)., 56th Annual Meeting of the Japanese Society of Neurology, May 2015..[著者] ... 宮﨑 由道, 宮本 亮介, 小泉 英貴, 瓦井 俊孝, 梶 龍兒 : (題名), 第56回日本神経学会学術大会, 2015年5月..[著者] ... 和泉 唯信, 隅蔵 大幸, 宇髙 不可思, 武内 俊明, 藤田 浩司, 野寺 裕之, 瓦井 俊孝, 村山 繁雄, 梶 龍兒 : 進行性核上性麻痺が先行した筋萎縮性側索硬化症2例の臨床病理学的検討, 第56回日本神経学会学術大会, 2015年5月..[著者] ... 沖 良祐, 大崎 裕亮, 宮本 亮介, 佐光 亘, 野寺 裕之, 瓦井 俊孝, 和泉 唯信, 梶 龍兒 : SCA14(L121P)1, 第56回日本神経学会学術大会, 2015年5月..[著者] ... 大崎 裕亮, 宮本 亮介, 野寺 裕之, 瓦井 俊孝, 和泉 唯信, 梶 龍兒 : 中年期に発症し重症度に性差を認めたdistal hereditary motor neuropathy家系の臨床遺伝学的検討, 第56回日本神経学会学術大会, 2015年5月..[著者] ... 和泉 唯信, 塚本 愛, 澤村 正典, 山本 伸昭, 織田 雅也, 小川 博久, 瓦井 俊孝, 佐田 政隆, 宇高 不可思, 梶 龍兒 : たこつぼ型心筋症を合併した筋萎縮性側索硬化症の2例, 第2回日本心血管脳卒中学会学術集会, 2015年6月..[著者] ... Toshitaka Kawarai, Atsushi Tajima, Yukiko Kuroda, Naoki Saji, Antonio Orlacchio, Hideo Terasawa, Hirotaka Shimizu, Yasushi Kita, Yuishin Izumi, Takao Mitsui, Issei Imoto and Ryuji Kaji : A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability., Journal of Neurology, Neurosurgery, and Psychiatry, Vol.87, No.6, 656-662, 2015..[著者] ... Ryosuke Miyamoto, Toshitaka Kawarai, Ryosuke Oki, Shinichi Matsumoto, Yuishin Izumi and Ryuji Kaji : Lack of C9orf72 expansion in 406 sporadic and familial cases of idiopathic dystonia in Japan., Movement Disorders, Vol.30, No.10, 1430-1431, 2015..[著者] ... Ryosuke Miyamoto, Hiroyuki Sumikura, Toshiaki Takeuchi, Mitsuru Sanada, Koji Fujita, Toshitaka Kawarai, Hideo Mure, Ryoma Morigaki, Satoshi Goto, Shigeo Murayama, Yuishin Izumi and Ryuji Kaji : Autopsy case of severe generalized dystonia and static ataxia with marked cerebellar atrophy., Neurology, Vol.85, No.17, 1522-1524, 2015..[著者] ... Toshitaka Kawarai, Ryosuke Miyamoto, Atsuko Mori, Ryosuke Oki, Ai Tsukamoto-Miyashiro, Naoko Matsui, Yoshimichi Miyazaki, Antonio Orlacchio, Yuishin Izumi, Yoshihiko Nishida and Ryuji Kaji : Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation., Journal of the Neurological Sciences, Vol.359, No.1-2, 250-255, 2015..[著者] ... 大崎 裕亮, 野寺 裕之, 和泉 唯信, 沖 良祐, 宮本 亮介, 瓦井 俊孝, 川上 秀史, 梶 龍兒 : 兒 spinocerebellar ataxia type 6 患者の末梢神経は軸索膜のslow K+ current増加を示す, 第45回日本臨牀生理学会学術大会, 2015年11月..[著者] ... Celeste Montecchiani, Lucia Pedace, Temistocle Giudice Lo, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, L José Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, H George-Hyslop Peter St, P Orlando G Barsottini, Toshitaka Kawarai and Antonio Orlacchio : ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease., Brain, Vol.139, No.Pt 1, 73-85, 2015..[著者] ... 和泉 唯信, 隅蔵 大幸, 織田 雅也, 瓦井 俊孝, 長谷川 成人, 梶 龍兒, 村山 繁雄 : 半年間で急激な側頭葉萎縮を呈した広汎型筋萎縮性側索硬化症の1剖検例, 第43回臨床神経病理懇話会・第12回日本神経病理学会近畿地方会, 2015年11月..[著者] ... 沖 良祐, 瓦井 俊孝, 宮本 亮介, 森 敦子, 塚本 愛, 松井 尚子, 宮﨑 由道, 和泉 唯信, 西田 善彦, 梶 龍兒 : 30歳を過ぎて痙性対麻痺および痙性構音障害が顕在化した新規SPG11変異を持つ同胞例, 第99回日本神経学会中国・四国地方会, 2015年12月..[著者] ... Toshitaka Kawarai, Ryosuke Miyamoto, Yoshimitsu Shimatani, Oki Ryosuke, Orlacchio Antonio, Yuishin Izumi, Nishida Yoshihiko, Adachi Katsuhiko and Ryuji Kaji : Three sibships showing various involuntary movements by a novel homozygous STUB1 gene mutation., 60th Annual Meeting of the Japan Society of Human Genetics, Dec. 2015..[著者] ... Yoshimichi Miyazaki, Hidetaka Koizumi, Ryosuke Miyamoto, Toshitaka Kawarai and Ryuji Kaji : Treatment of Isolated Dystonia with Zolpidem, Movement Disorders Clinical Practice, 2015..[著者] ... 山上 圭, 和泉 唯信, 内野 彰子, 武藤 浩平, 梶 誠兒, 宮本 亮介, 瓦井 俊孝, 村山 繁雄, 梶 龍兒 : 補助呼吸なしに22年生存した筋萎縮性側索硬化症の男性例, 第111回日本神経病理学会関東地方会, 2015年12月..[著者] ... Yoshimitsu Shimatani, Yuta Nakano, Naoko Tsuyama, Shigeo Murayama, Ryosuke Oki, Ryosuke Miyamoto, Nagahisa Murakami, Koji Fujita, Syunsuke Watanabe, Hisanori Uehara, Takashi Abe, Hiroyuki Nodera, Toshitaka Kawarai, Yuishin Izumi and Ryuji Kaji : Extranodal NK/T-cell lymphoma, nasal type, manifesting as rapidly progressive dementia without any mass or enhancing brain lesion., Neuropathology, Vol.36, No.5, 456-463, 2016..[著者] ... Chimeglkham Banzrai, Hiroyuki Nodera, Toshitaka Kawarai, Saki Higashi, Ryo Okada, Atsuko Mori, Yoshimitsu Shimatani, Yusuke Osaki and Ryuji Kaji : Impaired Axonal Na(+) Current by Hindlimb Unloading: Implication for Disuse Neuromuscular Atrophy., Frontiers in Physiology, Vol.7, No.364, 45-49, 2016..[著者] ... Kaji Seiji, Toshitaka Kawarai, Miyamoto Ryosuke, Hiroyuki Nodera, Pedace Lucia, Orlacchio Antonio, Yuishin Izumi, Takahashi Ryosuke and Ryuji Kaji : Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis, Journal of the Neurological Sciences, Vol.364, 45-49, 2016..[著者] ... Toshitaka Kawarai, Ryosuke Miyamoto, Kuroda Yukiko, Omoto Masatoshi, Ueyama Morio, Murakami Nagahisa, Takahiro Furukawa, Oki Ryosuke, Hiroyuki Nodera, Orlacchio Antonio, Hashiguchi Akihiro, Higuchi Yujiro, Takashima Hiroshi, Kanda Takashi, Yuishin Izumi, Nagai Yoshitaka, Mitsui Takao and Kaji Ryuji : A Homozygous loss-of-function mutation in DNAJA3 causes Hereditary Motor and Sensory Neuropathy with Spastic Paraplegia (HMSN type V), The 13th International Congress of Human Genetics (ICHG2016), (都市), April 2016..[著者] ... Mearini Marzia, Pedace Lucia, Casella Antonella, Celeste Montecchiani, Gaudiello Fabrizio, Miele Marialuisa, Pedroso Luiz Jose, Caltagirone Carlo, Massa Roberto, Barsottini Orlando, Munhoz Renato, Toshitaka Kawarai and Orlacchio Antonio : HEREDITARY SPASTIC PARAPLEGIA TYPE 4 (SPG4): A CLINICO-GENETIC STUDY IN A LARGE COHORT OF PATIENTS WITH SPASTIC PARAPLEGIA, The 68th American Academy of Neurology (AAN) Annual Meeting, (都市), April 2016..[著者] ... Montecchiani Celeste, Pedace Lucia, Giudice Lo Temistocle, Casella Antonella, Mearini Marzia, Gaudiello Fabrizio, Pedroso Luiz Jose, Terracciano Chiara, Caltagirone Carlo, Massa Roberto, George-Hyslop St Peter, Barsottini Orlando, Toshitaka Kawarai and Orlacchio Antonio : IDENTIFICATION OF ALS5/SPG11/KIAA1840 MUTATIONS IN PATIENTS WITH AUTOSOMAL RECESSIVE FORM OF CHARCOT-MARIE-TOOTH DISEASE TYPE 2, The 68th American Academy of Neurology (AAN) Annual Meeting, (都市), April 2016..[著者] ... Konno Takuya, Yoshida Kunihiro, Mizuno Toshiki, Toshitaka Kawarai, Tada Masayoshi, Nozaki Hiroaki, Ikeda Shu-ichi, Nishizawa Masatoyo, Onodera Osamu, Wszolek K. Zbigniew and Ikeuchi Takeshi : Proposed Diagnostic Criteria for Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia, The 68th American Academy of Neurology (AAN) Annual Meeting, (都市), April 2016..[著者] ... 宮﨑 由道, 宮本 亮介, 瓦井 俊孝, 梶 龍兒 : 遺伝性ジストニア, 第57回日本神経学会学術大会, 2016年5月..[著者] ... Oki Ryosuke, Tanabe Akie, Toshitaka Kawarai, Oka Nobuyuki, Yuishin Izumi and Ryuji Kaji : Animal model of HMSN-P, The 57th Annual Meeting of the Japanese Society of Neurology, May 2016..[著者] ... Toshitaka Kawarai, Fujita Koji, Yuishin Izumi, Yoshida Mari and Ryuji Kaji : Clinicopathological features of HMSN-P in the Kansai area of Japan, The 57th Annual Meeting of the Japanese Society of Neurology, May 2016..[著者] ... Toshitaka Kawarai, Ryosuke Miyamoto, Kuroda Yukiko, Omoto Masatoshi and Ueyama Morio : A Homozygous loss-of-function mutation in DNAJA3 causes HMSN type V, The 57th Annual Meeting of the Japanese Society of Neurology, May 2016..[著者] ... 瓦井 俊孝 : 不随意運動の診断と治療 (ジストニアの遺伝研究), 株式会社 診断と治療社, (都市), 2016年5月..[著者] ... Toshitaka Kawarai, Kanto Yamasaki, Atsuko Mori, Naoko Takamatsu, Yusuke Osaki, Chimeglkham Banzrai, Chimeglkham Banzrai, Ryosuke Miyamoto, Ryosuke Oki, Lucia Pedace, Antonio Orlacchio, Hiroyuki Nodera, Akihiro Hashiguchi, Yujiro Higuchi, Hiroshi Takashima, Yoshihiko Nishida, Yuishin Izumi and Ryuji Kaji : MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2, Journal of Neurology, Neurosurgery, and Psychiatry, 2016..[著者] ... Toshitaka Kawarai, Ryosuke Miyamoto, Kuroda Yukiko, Omoto Masatoshi, Ueyama Morio, Murakami Nagahisa, Takahiro Furukawa, Oki Ryosuke, Hiroyuki Nodera, Orlacchio Antonio, Hashiguchi Akihiro, Higuchi Yujiro, Takashima Hiroshi, Kanda Takashi, Yuishin Izumi, Nagai Yoshitaka, Takao Mitsui and Ryuji Kaji : A Homozygous loss-of-function mutation in DNAJA3 causes Hereditary Motor and Sensory Neuropathy with Spastic Paraplegia (HMSN type V), The MDS 20th International Congress of Parkinsons Disease and Movement Disorders, (都市), June 2016..[著者] ... Orlacchio Antonio, Mearini Marzia, Pedace Lucia, Casella Antonella, Montecchiani Celeste, Montecchiani Celeste, Maurialuisa Miele, Massa Roberto, Caltagirone Carlo, Munhoz P Renato, Pedroso L Josè, Barsottini GP Orlando and Toshitaka Kawarai : A clinic-genetical study in a large cohort of patients with spastic paraplegia type 4 (SPG4), The MDS 20th International Congress of Parkinsons Disease and Movement Disorders, (都市), June 2016..[著者] ... Toshitaka Kawarai, Ryosuke Miyamoto, Yoshimitsu Shimatani, Antonio Orlacchio and Ryuji Kaji : Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16., JAMA Neurology, Vol.73, No.7, 888-890, 2016..[著者] ... T Konno, K Yoshida, T Mizuno, Toshitaka Kawarai, M Tada, H Nozaki, S-I Ikeda, M Nishizawa, O Onodera, K Z Wszolek and T Ikeuchi : Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation., European Journal of Neurology, Vol.24, No.1, 37-45, 2016..[著者] ... Roberto Tiribuzi, Lucia Crispoltoni, Valerio Chiurchiù, Antonella Casella, Celeste Montecchiani, Marco Pino Alberto Del, Mauro Maccarrone, Alberto Carlo Palmerini, Carlo Caltagirone, Toshitaka Kawarai, Aldo Orlacchio and Antonio Orlacchio : Trans-crocetin improves amyloid- degradation in monocytes from Alzheimer's Disease patients., Journal of the Neurological Sciences, Vol.372, (号), 408-412, 2016..[著者] ... Takashi Abe, Toshitaka Kawarai, Koji Fujita, Wataru Sako, Yuka Terasawa, Tsuyoshi Matsuda, Waka Sakai, Ai Tsukamoto-Miyashiro, Naoko Matsui, Yuishin Izumi, Ryuji Kaji and Masafumi Harada : MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation., Magnetic Resonance in Medical Sciences, Vol.16, No.4, 297-303, 2016..[著者] ... Nagahisa Murakami, Keiko Imamura, Yuishin Izumi, Naohiro Egawa, Kayoko Tsukita, Takako Enami, Takuya Yamamoto, Toshitaka Kawarai, Ryuji Kaji and Haruhisa Inoue : Proteasome impairment in neural cells derived from HMSN-P patient iPSCs., Molecular Brain, Vol.10, No.1, (頁), 2017..[著者] ... Masaki Kamada, Toshitaka Kawarai, Ryosuke Miyamoto, Tojima Yuki, Orlacchio Antonio and Ryuji Kaji : Hereditary spastic paraplegia type 31: a novel splice site donor mutation and intra-familial phenotypic variability, The MDS 21th International Congress of Parkinsons Disease and Movement Disorders, (頁), (都市), June 2017..[著者] ... Orlacchio Antonio, Montecchiani Celeste, Ryosuke Miyamoto, Mearini Marzia, DOnofrio Laura, Marialuisa Miele, Gaudiello Fabrizio, Yuishin Izumi, Caltagirone Carlo, Ryuji Kaji and Toshitaka Kawarai : Spastic Paraplegia Type 4: a Novel SPAST Splice Site Donor Mutation and Expansion of the Phenotype Variability, The MDS 21th International Congress of Parkinsons Disease and Movement Disorders, (都市), June 2017..[著者] ... Toshitaka Kawarai, Ryosuke Miyamoto, Hideo Mure, Ryoma Morigaki, Orlacchio Antonio, Koichihara Reiko, Nakagawa Eiji, Takashi Sakamoto, Yuishin Izumi, Satoshi Goto and Ryuji Kaji : Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor ability, The MDS 21th International Congress of Parkinsons Disease and Movement Disorders, (都市), June 2017..[著者] ... Toshitaka Kawarai, Ryoma Morigaki, Ryuji Kaji and Satoshi Goto : Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag)., Brain Sciences, Vol.7, No.7, 72, 2017..[著者] ... Toshitaka Kawarai, Celeste Montecchiani, Ryosuke Miyamoto, Fabrizio Gaudiello, Carlo Caltagirone, Yuishin Izumi, Ryuji Kaji and Antonio Orlacchio : Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability., Journal of the Neurological Sciences, Vol.380, 92-97, 2017..[著者] ... T Konno, K Yoshida, I Mizuta, T Mizuno, Toshitaka Kawarai, M Tada, H Nozaki, S-I Ikeda, O Onodera, K Z Wszolek and T Ikeuchi : Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation., European Journal of Neurology, Vol.25, No.1, 142-147, 2017..[著者] ... Masaki Kamada, Toshitaka Kawarai, Ryosuke Miyamoto, Rie Kawakita, Yuki Tojima, Celeste Montecchiani, Laura D'Onofrio, Carlo Caltagirone, Antonio Orlacchio and Ryuji Kaji : Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability., Parkinsonism & Related Disorders, Vol.46, 79-83, 2017..[著者] ... Kozue Kuwabara, Toshitaka Kawarai, Yasushi Ishida, Ryosuke Miyamoto, Ryosuke Oki, Antonio Orlacchio, Yoshiko Nomura, Mitsumasa Fukuda, Eiichi Ishii, Haruo Shintaku and Ryuji Kaji : A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course., Parkinsonism & Related Disorders, Vol.46, 87-89, 2017..[著者] ... 堀 いくみ, 中村 勇治, 家田 大輔, 根岸 豊, 服部 文子, 安藤 直樹, 眞下 秀明, 熊田 聡子, 横地 房子, 谷口 真, 瓦井 俊孝, 齋藤 伸治 : ヒストンメチル化酵素遺伝子KMT2B変異を認めた若年発症型ジストニアの1例, 第48回日本小児神経学会東海地方会, 2018年1月..[著者] ... 黒田 一駿, 宮本 亮介, 村上 永尚, 瓦井 俊孝, 和泉 唯信, 梶 龍兒 : 長期間経過観察しえたchoreaとmyoclonusを含む不随意運動症例, 第105回日本神経学会中国・四国地方会, 2018年2月..[著者] ... 星野 恭子, 林 雅晴, 木村 一恵, 長尾 ゆり, 福水 道郎, 瓦井 俊孝, 梶 龍兒 : ATP1A3Rapid-onset dystonia-parkinsonism (DYT12) 17, 第68回日本小児神経学会関東地方会, 2018年3月..[著者] ... Toshitaka Kawarai, Ryosuke Miyamoto, Eiji Nakagawa, Reiko Koichihara, Takashi Sakamoto, Hideo Mure, Ryoma Morigaki, Hidetaka Koizumi, Ryosuke Oki, Celeste Montecchiani, Carlo Caltagirone, Antonio Orlacchio, Ayako Hattori, Hideaki Mashimo, Yuishin Izumi, Takahiro Mezaki, Satoko Kumada, Makoto Taniguchi, Fusako Yokochi, Shinji Saitoh, Satoshi Goto and Ryuji Kaji : Phenotype variability and allelic heterogeneity in KMT2B-Associated disease., Parkinsonism & Related Disorders, 2018..[著者] ... Toshitaka Kawarai, Ryosuke Miyamoto, Takashi Sakamoto, Yuishin Izumi and Ryuji Kaji : Cohort profile of the Japan Dystonia Consortium:Molecular Epidemiology of Dystonia in Japan, 59th Annual Meeting of the Japanese Society of Neurology, May 2018..[著者] ... 松原 知康, 織田 雅也, 伊藤 聖, 倉重 毅志, 渡辺 千種, 瓦井 俊孝, 宮本 亮介, 横田 修, 原口 俊, 寺田 整司, 村山 繁雄, 和泉 唯信 : SOD1遺伝子L126S変異を伴う家族性筋萎縮性側索硬化症の臨床,病理学的特徴に関する検討, 第59回日本神経学会学術大会, 2018年5月..[著者] ... 宮田 世羽, 吉田 大峰, 本多 武尊, 熊田 聡子, 眞下 秀明, 西田 裕哉, 白井 育子, 栗原 栄二, 筧 慎治, 濱中 耕平, 宮武 聡子, 松本 直通, 服部 文子, 瓦井 俊孝, 谷口 真, 横地 房子 : KMT2B遺伝子変異2例に対する淡蒼球内節刺激療法∼定量的運動機能解析システムを用いた検討, 第60回日本小児神経学会学術集会, 2018年5月..[著者] ... 喜多 也寸志, 瓦井 俊孝, 吉田 幸司, 寺澤 英夫, 清水 洋孝, 上原 敏志 : 自律神経症状を前景とした成人型神経核内封入体病と思われる1例, 第104回日本神経学会中国・四国地方会, 2018年6月..[著者] ... 和泉 唯信, 高田 忠幸, 宮本 亮介, 瓦井 俊孝, 野寺 裕之, 村山 繁雄, 梶 龍兒 : subclinicalレビー小体病を合併した筋萎縮性側索硬化症の1例, 第104回日本神経学会中国・四国地方会, 2018年6月..[著者] ... 瓦井 俊孝 : 遺伝性ジストニア, 南江堂, 東京, 2018年6月..[著者] ... 瓦井 俊孝, 宮本 亮介, 梶 龍兒 : Lesser motor disability from adolescence to adulthood: a nine-year follow-up of a patient with dyskinesia, 第12回パーキンソン病・運動障害疾患コングレス, 2018年7月..[著者] ... Kyoko Hoshino, 瓦井 俊孝, Masaharu Hayashi, Kazue Kimura, Yuri Nagao, Michio Fukumizu, 宮本 亮介, 梶 龍兒 : Sudden onset of dystonia of mouth and arm with EEG abnormality; 17-years-old male, 第12回パーキンソン病・運動障害疾患コングレス, 2018年7月..[著者] ... 森 達夫, 郷司 彩, 東田 好広, 武井 美貴子, 伊藤 弘道, 瓦井 俊孝, 香美 祥二 : GCH1遺伝子に変異を認めた瀬川病の8歳男児例, 第29回日本小児神経学会中国四国地方会, 2018年7月..[著者] ... Toshitaka Kawarai, Ryosuke Miyamoto, Orlacchio Antonio and Ryuji Kaji : OHORT PROFILE OF THE JAPAN DYSTONIA CONSORTIUM: GENETIC DIAGNOSIS AND CHARACTERISTICS OF MOVEMENT DISORDERS IN JAPAN, The MDS 22th International Congress of Parkinsons Disease and Movement Disorders Society, (頁), (都市), Oct. 2018..[著者] ... Kyoto Hoshino, Toshitaka Kawarai, Masaharu Hayashi, Kazue Kimura, Yuri Nagao, Michio Fukumizu, Ryosuke Miyamoto and Ryuji Kaji : ENCEPHALOPATHY IN A PATIENT WITH RAPID-ONSET DYSTONIA-PARKINSONISM CARRYING A NOVEL ATP1A3 MUTATION, The MDS 22th International Congress of Parkinsons Disease and Movement Disorders Society, (都市), Oct. 2018..[著者] ... Montecchiani Celeste, Rumore Roberto, Gaudiello Fabrizio, Miele Marialuisa, Caltagirone Carlo, Toshitaka Kawarai and Orlacchio Antonio : A NEW SPG4/SPAST MUTATION IN AN ITALIAN FAMILY WITH HEREDITARY SPASTIC PARAPLEGIA AND ALZHEIMER'S DISEASE, The MDS 22th International Congress of Parkinsons Disease and Movement Disorders Society, (都市), Oct. 2018..[著者] ... Toshitaka Kawarai, Ryosuke Miyamoto, Takashi Sakamoto, Antonio Orlacchio, Yuishin Izumi and Ryuji Kaji : Molecular Epidemiology of Dystonia in Japan, The 63rd Annual Meeting of the Japan Society of Human Genetics, Oct. 2018..[著者] ... 高松 直子, 野寺 裕之, 瓦井 俊孝, 山崎 博輝, 森 敦子, 大崎 裕亮, 垂髪 祐樹, 和泉 唯信, 梶 龍兒 : -PMP221, 第48回日本臨床神経生理学会学術大会, 2018年11月..[著者] ... 福本 竜也, 宮本 亮介, 山﨑 博輝, 村上 永尚, 大崎 裕亮, 藤田 浩司, 野寺 裕之, 瓦井 俊孝, 和泉 唯信, 梶 龍兒 : 特異な歩行障害を呈したGerstmann-Straussler-Scheinker病の31歳男性, 第105回日本神経学会中国・四国地方会, 2018年12月..[著者] ... Fumiko Nakazeki, Itaru Tsuge, Takahiro Horie, Keiko Imamura, Kayoko Tsukita, Akitsu Hotta, Osamu Baba, Yasuhide Kuwabara, Tomohiro Nishino, Tetsushi Nakao, Masataka Nishiga, Hitoo Nishi, Yasuhiro Nakashima, Yuya Ide, Satoshi Koyama, Masahiro Kimura, Shuhei Tsuji, Motoko Naitoh, Shigehiko Suzuki, Yuishin Izumi, Toshitaka Kawarai, Ryuji Kaji, Takeshi Kimura, Haruhisa Inoue and Koh Ono : MiR-33a is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons, Clinical Science, Vol.133, No.4, 583-595, 2019..[著者] ... Toshitaka Kawarai, Hiroki Yamazaki, Ryosuke Miyamoto, Naoko Takamatsu, Atsuko Mori, Yusuke Osaki, Antonio Orlacchio, Hiroyuki Nodera, Akihiro Hashiguchi, Yujiro Higuchi, Akiko Yoshimura, Hiroshi Takashima and Ryuji Kaji : PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability., Neuromuscular Disorders, Vol.26, No.6, 422-426, 2019..[著者] ... Toshitaka Kawarai, Ryosuke Miyamoto, Takashi Sakamoto, Yuishin Izumi and Ryuji Kaji : Reverse phenotyping of 64 cases of genetically confirmed combined/comp lex dystonia, 60th Annual Meeting of the Japanese Society of Neurology, (巻), (号), (頁), May 2019..[著者] ... 松原 知康, 織田 雅也, 瓦井 俊孝, 梶 龍兒, 和泉 唯信 : 徳島県・広島県における筋萎縮性側索硬化症診断の実証的研究, 第60回 日本神経学会学術大会, 2019年5月..[著者] ... 眞下 秀明, 熊田 聡子, 瓦井 俊孝, 宮武 聡子, 松本 直通 : KMT2B(Pallidal stimulation for patients with KMT2B mutations), 第61回日本小児神経学会学術集会, (巻), (号), (頁), 2019年5月..[著者] ... 星野 恭子, 長尾 ゆり, 瓦井 俊孝 : 思春期に頚部ジストニアで発症し新規の遺伝子変異が同定されたDYT-KMT2B(DYT28)の1例, 第61回日本小児神経学会学術集会, (巻), (号), (頁), 2019年5月..[著者] ... 瓦井 俊孝 : 遺伝性ジストニア update, 運動障害, No.29, 27-36, 2019年6月..[著者] ... Koji Fujita, Tomoyasu Matsubara, Ryosuke Miyamoto, Hiroyuki Sumikura, Toshiaki Takeuchi, Keiko Saladini Maruyama, Toshitaka Kawarai, Hiroyuki Nodera, Fukashi Udaka, Kodai Kume, Hiroyuki Morino, Hideshi Kawakami, Masato Hasegawa, Ryuji Kaji, Shigeo Murayama and Yuishin Izumi : Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report., BMC Neurology, Vol.19, No.1, 168, 2019..[著者] ... Toshitaka Kawarai, Antonio Orlacchio and Ryuji Kaji : Lesser motor disability in adulthood: A ten-year follow-up of a dyskinetic patient with ADCY5 mutation, Journal of the Neurological Sciences, Vol.405, 116383, 2019..[著者] ... 宮本 容子, 瓦井 俊孝, 森 達夫, 郷司 彩, 森本 雅美 : IRUDによりPTEN過誤腫症候群と診断された先天性疾患の児の遺伝カウンセリング, 第43回日本遺伝カウンセリング学会, (巻), (号), (頁), 2019年8月..[著者] ... Toshitaka Kawarai and Ryuji Kaji : Clinical and Genetic analysis of patients with mixed movement disorders, 日本人類遺伝学会第64回大会, (巻), (号), (頁), Nov. 2019..[著者] ... 東 慶輝, 宮武 聡子, 宮城 愛, 瓦井 俊孝 : 一卵性双生児の発症者と非発症者ともに病的モザイク変異を認めたSETX-ALS4症例, 日本人類遺伝学会第64回大会, (巻), (号), (頁), 2019年11月..[著者] ... Toshitaka Kawarai, Hiroki Yamazaki, Kei Yamakami, Ai Tsukamoto-Miyashiro, Mizuki Kodama, Roberto Rumore, Carlo Caltagirone, Ichizo Nishino and Antonio Orlacchio : A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment., Journal of the Neurological Sciences, Vol.409, 2019..[著者] ... 宮城 愛, 瓦井 俊孝, 山﨑 博輝 : AIFM1遺伝子変異により感音性難聴と感覚性末梢神経障害を認めた一例, 第107回日本神経学会中国・四国地方会, (巻), (号), (頁), 2019年12月..[著者] ... 瓦井 俊孝 : 神経難病とゲノム医療, 四国医学雑誌, Vol.75, No.5, 137-142, 2019年12月..[著者] ... 森 達夫, 郷司 彩, 東田 好広, 伊藤 弘道, 瓦井 俊孝, 藤田 京志, 松本 直通, 森 健治 : 薬剤抵抗性てんかんを合併したARID1B 遺伝子欠失を伴うCoffin-Siris症候群の女児例., 第31回日本小児神経学会中国・四国地方会, 2020年7月..[著者] ... Ryosuke Miyamoto, Toshitaka Kawarai, T Takeuchi, Yuishin Izumi, Satoshi Goto and Ryuji Kaji : Efficacy of Istradefylline for the Treatment of ADCY5-Related Disease, Movement Disorders Clinical Practice, Vol.7, No.7, 852-853, 2020..[著者] ... Chizuru Ikeda, Toshitaka Kawarai, Chisa Setoyama, Antonio Orlacchio and Hoseki Imamura : Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism., Neurological Sciences, 2020..[著者] ... Daisy Ma Tabuena, Ryoma Morigaki, Ryosuke Miyamoto, Hideo Mure, Nobuaki Yamamoto, Kazuhisa Miyake, Taku Matsuda, Yuishin Izumi, Yasushi Takagi, P Rollin Tabuena and Toshitaka Kawarai : Ataxia with vitamin E deficiency in the Philippines: A case report of two siblings., The Journal of Medical Investigation : JMI, Vol.68, No.3.4, 400-403, 2021..[著者] ... Sakiko Itaya, Toshitaka Kawarai and Tomoyuki Kamata : A case of cervical dystonia with GNAL mutation and a subsequent shift in laterality of torticollis after temporary remission, Neurology and Clinical Neuroscience, Vol.9, 137-139, 2021..[著者] ... Tatsuo Mori, Goji Aya, Toda Yoshihiro, Hiromichi Ito, Toshitaka Kawarai, Fujita Atsushi, Matsumoto Naomichi and Kenji Mori : A partial ARID1B deletion in a female child with intractable epilepsy, Epilepsy & Seizure, Vol.13, No.1, 45-50, 2021..[著者] ...
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Number of session users = 0, LA = 0.77, Max(EID) = 414418, Max(EOID) = 1118175.