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GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN, Gan-Or Z. Senkevich K, et al. Among authors: somerville e. Brain. 2023 May 2;146(5):1859-1872. doi: 10.1093/brain/awac413. Brain. 2023. PMID: 36370000 Free PMC article.
NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts.
Somerville EN, Krohn L, Yu E, Rudakou U, Senkevich K, Ruskey JA, Asayesh F, Ahmad J, Spiegelman D, Dauvilliers Y, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Ibrahim A, Stefani A, Högl B, Gigli GL, Valente M, Janes F, Bernardini A, Dusek P, Sonka K, Kemlink D, Plazzi G, Antelmi E, Biscarini F, Mollenhauer B, Trenkwalder C, Sixel-Doring F, Figorilli M, Puligheddu M, De Cock VC, Oertel W, Janzen A, Ferini-Strambi L, Heibreder A, Monaca CC, Abril B, Dijkstra F, Viaene M, Boeve BF, Postuma RB, Rouleau GA, Gan-Or Z. Somerville EN, et al. Neurobiol Aging. 2023 Jul;127:94-98. doi: 10.1016/j.neurobiolaging.2023.03.002. Epub 2023 Mar 8. Neurobiol Aging. 2023. PMID: 37032242
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper.
Perucca E, French JA, Aljandeel G, Balestrini S, Braga P, Burneo JG, Felli AC, Cross JH, Galanopoulou AS, Jain S, Jiang Y, Kälviäinen R, Lim SH, Meador KJ, Mogal Z, Nabbout R, Sofia F, Somerville E, Sperling MR, Triki C, Trinka E, Walker MC, Wiebe S, Wilmshurst JM, Wirrell E, Yacubian EM, Kapur J. Perucca E, et al. Among authors: somerville e. Epilepsia. 2024 Mar;65(3):533-541. doi: 10.1111/epi.17877. Epub 2024 Jan 27. Epilepsia. 2024. PMID: 38279786 Review.
Later onset focal epilepsy with roots in childhood: Evidence from early learning difficulty and brain volumes in the Human Epilepsy Project.
Pellinen J, Pardoe H, Sillau S, Barnard S, French J, Knowlton R, Lowenstein D, Cascino GD, Glynn S, Jackson G, Szaflarski J, Morrison C, Meador KJ, Kuzniecky R; Human Epilepsy Project Investigators. Pellinen J, et al. Epilepsia. 2023 Oct;64(10):2761-2770. doi: 10.1111/epi.17727. Epub 2023 Aug 4. Epilepsia. 2023. PMID: 37517050
143 results