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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.
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
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.
Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.
Blauwendraat C, Tayebi N, Woo EG, Lopez G, Fierro L, Toffoli M, Limbachiya N, Hughes D, Pitz V, Patel D, Vitale D, Koretsky MJ, Hernandez D, Real R, Alcalay RN, Nalls MA, Morris HR, Schapira AHV, Balwani M, Sidransky E. Blauwendraat C, et al. Among authors: toffoli m. Mov Disord. 2023 May;38(5):899-903. doi: 10.1002/mds.29342. Epub 2023 Mar 3. Mov Disord. 2023. PMID: 36869417 Free PMC article.
Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial.
Mullin S, Smith L, Lee K, D'Souza G, Woodgate P, Elflein J, Hällqvist J, Toffoli M, Streeter A, Hosking J, Heywood WE, Khengar R, Campbell P, Hehir J, Cable S, Mills K, Zetterberg H, Limousin P, Libri V, Foltynie T, Schapira AHV. Mullin S, et al. Among authors: toffoli m. JAMA Neurol. 2020 Apr 1;77(4):427-434. doi: 10.1001/jamaneurol.2019.4611. JAMA Neurol. 2020. PMID: 31930374 Free PMC article. Clinical Trial.
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