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Recommendations of the Global Multiple System Atrophy Research Roadmap Meeting.
Walsh RR, Krismer F, Galpern WR, Wenning GK, Low PA, Halliday G, Koroshetz WJ, Holton J, Quinn NP, Rascol O, Shaw LM, Eidelberg D, Bower P, Cummings JL, Abler V, Biedenharn J, Bitan G, Brooks DJ, Brundin P, Fernandez H, Fortier P, Freeman R, Gasser T, Hewitt A, Höglinger GU, Huentelman MJ, Jensen PH, Jeromin A, Kang UJ, Kaufmann H, Kellerman L, Khurana V, Klockgether T, Kim WS, Langer C, LeWitt P, Masliah E, Meissner W, Melki R, Ostrowitzki S, Piantadosi S, Poewe W, Robertson D, Roemer C, Schenk D, Schlossmacher M, Schmahmann JD, Seppi K, Shih L, Siderowf A, Stebbins GT, Stefanova N, Tsuji S, Sutton S, Zhang J. Walsh RR, et al. Among authors: tsuji s. Neurology. 2018 Jan 9;90(2):74-82. doi: 10.1212/WNL.0000000000004798. Epub 2017 Dec 13. Neurology. 2018. PMID: 29237794 Free PMC article.
Multiplex families with multiple system atrophy.
Hara K, Momose Y, Tokiguchi S, Shimohata M, Terajima K, Onodera O, Kakita A, Yamada M, Takahashi H, Hirasawa M, Mizuno Y, Ogata K, Goto J, Kanazawa I, Nishizawa M, Tsuji S. Hara K, et al. Among authors: tsuji s. Arch Neurol. 2007 Apr;64(4):545-51. doi: 10.1001/archneur.64.4.545. Arch Neurol. 2007. PMID: 17420317
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network; Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Tezenas du Montcel S, et al. Among authors: tsuji s. Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26. Brain. 2014. PMID: 24972706 Free PMC article.
Variants associated with Gaucher disease in multiple system atrophy.
Mitsui J, Matsukawa T, Sasaki H, Yabe I, Matsushima M, Dürr A, Brice A, Takashima H, Kikuchi A, Aoki M, Ishiura H, Yasuda T, Date H, Ahsan B, Iwata A, Goto J, Ichikawa Y, Nakahara Y, Momose Y, Takahashi Y, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Ito M, Sobue G, Ishikawa K, Mizusawa H, Kanai K, Hattori T, Kuwabara S, Arai K, Koyano S, Kuroiwa Y, Hasegawa K, Yuasa T, Yasui K, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Kusunoki S, Osaki Y, Horiuchi M, Kondo T, Murayama S, Hattori N, Yamamoto M, Murata M, Satake W, Toda T, Filla A, Klockgether T, Wüllner U, Nicholson G, Gilman S, Tanner CM, Kukull WA, Stern MB, Lee VM, Trojanowski JQ, Masliah E, Low PA, Sandroni P, Ozelius LJ, Foroud T, Tsuji S. Mitsui J, et al. Among authors: tsuji s. Ann Clin Transl Neurol. 2015 Apr;2(4):417-26. doi: 10.1002/acn3.185. Epub 2015 Feb 28. Ann Clin Transl Neurol. 2015. PMID: 25909086 Free PMC article.
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H. Higuchi Y, et al. Among authors: tsuji s. Ann Neurol. 2016 Apr;79(4):659-72. doi: 10.1002/ana.24612. Epub 2016 Mar 17. Ann Neurol. 2016. PMID: 26991897 Free PMC article.
2,710 results