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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: butler eg. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: butler eg. Am J Hum Genet. 2023 Jun 1;110(6):1018. doi: 10.1016/j.ajhg.2023.05.005. Am J Hum Genet. 2023. PMID: 37267898 Free PMC article. No abstract available.
Disease Reactivation After Cessation of Disease-Modifying Therapy in Patients With Relapsing-Remitting Multiple Sclerosis.
Roos I, Malpas C, Leray E, Casey R, Horakova D, Havrdova EK, Debouverie M, Patti F, De Seze J, Izquierdo G, Eichau S, Edan G, Prat A, Girard M, Ozakbas S, Grammond P, Zephir H, Ciron J, Maillart E, Moreau T, Amato MP, Labauge P, Alroughani R, Buzzard K, Skibina O, Terzi M, Laplaud DA, Berger E, Grand'Maison F, Lebrun-Frenay C, Cartechini E, Boz C, Lechner-Scott J, Clavelou P, Stankoff B, Prevost J, Kappos L, Pelletier J, Shaygannejad V, Yamout BI, Khoury SJ, Gerlach O, Spitaleri DLA, Van Pesch V, Gout O, Turkoglu R, Heinzlef O, Thouvenot E, McCombe PA, Soysal A, Bourre B, Slee M, Castillo-Trivino T, Bakchine S, Ampapa R, Butler EG, Wahab A, Macdonell RA, Aguera-Morales E, Cabre P, Ben NH, Van der Walt A, Laureys G, Van Hijfte L, Ramo-Tello CM, Maubeuge N, Hodgkinson S, Sánchez-Menoyo JL, Barnett MH, Labeyrie C, Vucic S, Sidhom Y, Gouider R, Csepany T, Sotoca J, de Gans K, Al-Asmi A, Fragoso YD, Vukusic S, Butzkueven H, Kalincik T; MSBase and OFSEP. Roos I, et al. Among authors: butler eg. Neurology. 2022 Oct 25;99(17):e1926-e1944. doi: 10.1212/WNL.0000000000201029. Epub 2022 Aug 17. Neurology. 2022. PMID: 35977837 Free PMC article.
Association of Latitude and Exposure to Ultraviolet B Radiation With Severity of Multiple Sclerosis: An International Registry Study.
Vitkova M, Diouf I, Malpas C, Horakova D, Kubala Havrdova E, Patti F, Ozakbas S, Izquierdo G, Eichau S, Shaygannejad V, Onofrj M, Lugaresi A, Alroughani R, Prat A, Larochelle C, Girard M, Duquette P, Terzi M, Boz C, Grand'Maison F, Sola P, Ferraro D, Grammond P, Butzkueven H, Buzzard K, Skibina O, Yamout BI, Karabudak R, Gerlach O, Lechner-Scott J, Maimone D, Bergamaschi R, Van Pesch V, Iuliano G, Cartechini E, José Sà M, Ampapa R, Barnett M, Hughes SE, Ramo-Tello CM, Hodgkinson S, Spitaleri DLA, Petersen T, Butler EG, Slee M, McGuigan C, McCombe PA, Granella F, Cristiano E, Prevost J, Taylor BV, Sãnchez-Menoyo JL, Laureys G, Van Hijfte L, Vucic S, Macdonell RA, Gray O, Olascoaga J, Deri N, Fragoso YD, Shaw C, Kalincik T; MSBase Study Group. Vitkova M, et al. Among authors: butler eg. Neurology. 2022 Jun 14;98(24):e2401-e2412. doi: 10.1212/WNL.0000000000200545. Epub 2022 Apr 11. Neurology. 2022. PMID: 35410900 Free PMC article.
51 results