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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. 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
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.
Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A. Gan-Or Z, et al. Neurology. 2013 Apr 23;80(17):1606-10. doi: 10.1212/WNL.0b013e31828f180e. Epub 2013 Mar 27. Neurology. 2013. PMID: 23535491 Free PMC article.
Genetic markers of Restless Legs Syndrome in Parkinson disease.
Gan-Or Z, Alcalay RN, Bar-Shira A, Leblond CS, Postuma RB, Ben-Shachar S, Waters C, Johnson A, Levy O, Mirelman A, Gana-Weisz M, Dupré N, Montplaisir J, Giladi N, Fahn S, Xiong L, Dion PA, Orr-Urtreger A, Rouleau GA. Gan-Or Z, et al. Parkinsonism Relat Disord. 2015 Jun;21(6):582-5. doi: 10.1016/j.parkreldis.2015.03.010. Epub 2015 Mar 17. Parkinsonism Relat Disord. 2015. PMID: 25817513 Free PMC article.
Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder.
Gan-Or Z, Girard SL, Noreau A, Leblond CS, Gagnon JF, Arnulf I, Mirarchi C, Dauvilliers Y, Desautels A, Mitterling T, Cochen De Cock V, Frauscher B, Monaca C, Hogl B, Dion PA, Postuma RB, Montplaisir JY, Rouleau GA. Gan-Or Z, et al. J Mol Neurosci. 2015 Jul;56(3):617-22. doi: 10.1007/s12031-015-0569-7. Epub 2015 May 1. J Mol Neurosci. 2015. PMID: 25929833
GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.
Gan-Or Z, Mirelman A, Postuma RB, Arnulf I, Bar-Shira A, Dauvilliers Y, Desautels A, Gagnon JF, Leblond CS, Frauscher B, Alcalay RN, Saunders-Pullman R, Bressman SB, Marder K, Monaca C, Högl B, Orr-Urtreger A, Dion PA, Montplaisir JY, Giladi N, Rouleau GA. Gan-Or Z, et al. Ann Clin Transl Neurol. 2015 Sep;2(9):941-5. doi: 10.1002/acn3.228. Epub 2015 Jul 31. Ann Clin Transl Neurol. 2015. PMID: 26401515 Free PMC article.
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.
Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orrù S, Brunet D, Bouchard JP, Awadalla P, Dupré N, Dion PA, Rouleau GA. Leblond CS, et al. Neurobiol Aging. 2016 Jan;37:209.e17-209.e21. doi: 10.1016/j.neurobiolaging.2015.09.013. Epub 2015 Sep 28. Neurobiol Aging. 2016. PMID: 26493020
221 results