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SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder.
Rudakou U, Futhey NC, Krohn L, Ruskey JA, Heilbron K, Cannon P; 23andMe Research Team; Alam A, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Toffoli M, Gigli GL, Valente M, Högl B, Stefani A, Holzknecht E, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, De Cock VC, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA, Gan-Or Z. Rudakou U, et al. Among authors: toffoli m. Neurobiol Aging. 2020 Sep;93:142.e5-142.e7. doi: 10.1016/j.neurobiolaging.2020.04.005. Epub 2020 Apr 18. Neurobiol Aging. 2020. PMID: 32409254
Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies.
Krohn L, Wu RYJ, Heilbron K, Ruskey JA, Laurent SB, Blauwendraat C, Alam A, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Toft M, Bjørnarå KA, Stefani A, Holzknecht E, Monaca CC, Abril B, Plazzi G, Antelmi E, Ferini-Strambi L, Young P, Heidbreder A, Cochen De Cock V, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Sonka K, Kemlink D, Figorilli M, Puligheddu M, Dijkstra F, Viaene M, Oertel W, Toffoli M, Gigli GL, Valente M, Gagnon JF, Nalls MA, Singleton AB; 23andMe Research Team; Desautels A, Montplaisir JY, Cannon P, Ross OA, Boeve BF, Dupré N, Fon EA, Postuma RB, Pihlstrøm L, Rouleau GA, Gan-Or Z. Krohn L, et al. Among authors: toffoli m. Ann Neurol. 2020 Apr;87(4):584-598. doi: 10.1002/ana.25687. Epub 2020 Feb 12. Ann Neurol. 2020. PMID: 31976583 Free PMC article.
GBA variants in REM sleep behavior disorder: A multicenter study.
Krohn L, Ruskey JA, Rudakou U, Leveille E, Asayesh F, Hu MTM, Arnulf I, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Abril B, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Boeve BF, Espay AJ, De Cock VC, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Sonka K, Kemlink D, Figorilli M, Puligheddu M, Dijkstra F, Viaene M, Oertel W, Toffoli M, Gigli GL, Valente M, Gagnon JF, Desautels A, Montplaisir JY, Postuma RB, Rouleau GA, Gan-Or Z. Krohn L, et al. Among authors: toffoli m. Neurology. 2020 Aug 25;95(8):e1008-e1016. doi: 10.1212/WNL.0000000000010042. Epub 2020 Jun 26. Neurology. 2020. PMID: 32591474 Free PMC article.
Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study.
Toffoli M, Chohan H, Mullin S, Jesuthasan A, Yalkic S, Koletsi S, Menozzi E, Rahall S, Limbachiya N, Loefflad N, Higgins A, Bestwick J, Lucas-Del-Pozo S, Fierli F, Farbos A, Mezabrovschi R, Lee-Yin C, Schrag A, Moreno-Martinez D, Hughes D, Noyce A, Colclough K, Jeffries AR, Proukakis C, Schapira AHV. Toffoli M, et al. Neurobiol Dis. 2023 Nov;188:106343. doi: 10.1016/j.nbd.2023.106343. Epub 2023 Nov 3. Neurobiol Dis. 2023. PMID: 37926171 Free article.
Genetic causes of PD: A pathway to disease modification.
Toffoli M, Vieira SRL, Schapira AHV. Toffoli M, et al. Neuropharmacology. 2020 Jun 15;170:108022. doi: 10.1016/j.neuropharm.2020.108022. Epub 2020 Feb 29. Neuropharmacology. 2020. PMID: 32119885 Review.
38 results