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Page 1
LRP10 in α-synucleinopathies.
Pihlstrøm L, Schottlaender L, Chelban V, Houlden H; MSA Exome Consortium. Pihlstrøm L, et al. Among authors: schottlaender l. Lancet Neurol. 2018 Dec;17(12):1033-1034. doi: 10.1016/S1474-4422(18)30407-1. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507385 No abstract available.
LRRK2 exonic variants and risk of multiple system atrophy.
Heckman MG, Schottlaender L, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Ogaki K, Fujioka S, Murray ME, Cheshire WP, Uitti RJ, Wszolek ZK, Farrer MJ, Sailer A, Singleton AB, Chinnery PF, Keogh MJ, Gentleman SM, Holton JL, Aoife K, Mann DM, Al-Sarraj S, Troakes C, Dickson DW, Houlden H, Ross OA. Heckman MG, et al. Among authors: schottlaender l. Neurology. 2014 Dec 9;83(24):2256-61. doi: 10.1212/WNL.0000000000001078. Epub 2014 Nov 5. Neurology. 2014. PMID: 25378673 Free PMC article.
Lysosomal storage disorder gene variants in multiple system atrophy.
Pihlstrøm L, Schottlaender L, Chelban V; MSA Exome Consortium; Meissner WG, Federoff M, Singleton A, Houlden H. Pihlstrøm L, et al. Among authors: schottlaender l. Brain. 2018 Jul 1;141(7):e53. doi: 10.1093/brain/awy124. Brain. 2018. PMID: 29741613 Free PMC article. No abstract available.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H. Kara E, et al. Among authors: schottlaender l. Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. Epub 2016 May 23. Brain. 2016. PMID: 27217339 Free PMC article.
Analysis of the prion protein gene in multiple system atrophy.
Chelban V, Manole A, Pihlstrøm L, Schottlaender L, Efthymiou S, OConnor E, Meissner WG, Holton JL, Houlden H. Chelban V, et al. Among authors: schottlaender l. Neurobiol Aging. 2017 Jan;49:216.e15-216.e18. doi: 10.1016/j.neurobiolaging.2016.09.021. Epub 2016 Oct 3. Neurobiol Aging. 2017. PMID: 27793473 Free PMC article.
The frequency of spinocerebellar ataxia type 23 in a UK population.
Fawcett K, Mehrabian M, Liu YT, Hamed S, Elahi E, Revesz T, Koutsis G, Herscheson J, Schottlaender L, Wardle M, Morrison PJ, Morris HR, Giunti P, Wood N, Houlden H. Fawcett K, et al. Among authors: schottlaender l. J Neurol. 2013 Mar;260(3):856-9. doi: 10.1007/s00415-012-6721-1. Epub 2012 Oct 30. J Neurol. 2013. PMID: 23108490
A genome-wide association study in multiple system atrophy.
Sailer A, Scholz SW, Nalls MA, Schulte C, Federoff M, Price TR, Lees A, Ross OA, Dickson DW, Mok K, Mencacci NE, Schottlaender L, Chelban V, Ling H, O'Sullivan SS, Wood NW, Traynor BJ, Ferrucci L, Federoff HJ, Mhyre TR, Morris HR, Deuschl G, Quinn N, Widner H, Albanese A, Infante J, Bhatia KP, Poewe W, Oertel W, Höglinger GU, Wüllner U, Goldwurm S, Pellecchia MT, Ferreira J, Tolosa E, Bloem BR, Rascol O, Meissner WG, Hardy JA, Revesz T, Holton JL, Gasser T, Wenning GK, Singleton AB, Houlden H; European Multiple System Atrophy Study Group and the UK Multiple System Atrophy Study Group. Sailer A, et al. Among authors: schottlaender l. Neurology. 2016 Oct 11;87(15):1591-1598. doi: 10.1212/WNL.0000000000003221. Epub 2016 Sep 14. Neurology. 2016. PMID: 27629089 Free PMC article.
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.
Chelban V, Carecchio M, Rea G, Bowirrat A, Kirmani S, Magistrelli L, Efthymiou S, Schottlaender L, Vandrovcova J, Salpietro V, Salsano E, Pareyson D, Chiapparini L, Jan F, Ibrahim S, Khan F, Qarnain Z, Groppa S, Bajaj N, Balint B, Bhatia KP, Lees A, Morrison PJ, Wood NW, Garavaglia B, Houlden H. Chelban V, et al. Among authors: schottlaender l. Neurol Genet. 2020 Feb 20;6(2):e399. doi: 10.1212/NXG.0000000000000399. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32211515 Free PMC article.
29 results