SMPD1 variants do not have a major role in REM sleep behavior disorder

Rudakou UFuthey NCKrohn LRuskey JA, Heilbron K, Cannon P, The 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, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Beatriz A, Boeve BF, Postuma RB, Rouleau GA and Gan-Or ZSMPD1 variants do not have a major role in REM sleep behavior disorder. Neurobiology of Aging. 2020. PubMedPreprint

Biomarker Development and Disease Modification in Parkinson’s disease: Revision or Reconstruction?

Espay AJ, Kalia LV, Gan-Or Z, Williams-Gray C, Bedard PL, Rowe SM, Morgante F, Fasano A, Stecher B, Kauffman MA, Farrer MJ, Coffey CS, Schwarzschild MA, Postuma RB, Sherer T, Strafella AP, Singleton AB, Barker RA, Kieburtz K, Olanow CW, Cedarbaum JM, Standaert DG and Lang AE. Biomarker Development and Disease Modification in Parkinson’s disease: Revision or Reconstruction?. Neurology. 2020. PubMed

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype. 

Estiar MALeveille E, Spiegelman D, Dupre N, Trempe JF, Rouleau GA and Gan-Or ZClinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype. Molecular Genetics and Genomics Medicine. 2020. PubMed

Decreased penetrance of PD associated with heterozygous GBA p.L444P/R in an elderly cohort. 

Ji S, Wang C, Qiao H, Gu Z, Gan-Or Z, Fon EA and Chan P. Decreased penetrance of PD associated with heterozygous GBA p.L444P/R in an elderly cohort. Movement Disorders. 2020. PubMed

The Quebec Parkinson Network: A researcher-patient matching platform and multimodal biorepository.

Gan-Or Z, Rao T, Leveille E, Degroot C, Chouinard S, Cicchetti F, Dagher A, Das S, Desautels A, Drouin-Ouellet J, Durcan T, Gagnon JF, Genge A, Karamchandani J, Lafontaine AL, Lai Wing Sun S, Langlois M, Levesque M, Melmed C, Panisset M, Parent M, Poline JB, Postuma RB, Pourcher E, Rouleau GA, Sharp M, Monchi O, Dupré N and Fon EA. The Quebec Parkinson Network: A researcher-patient matching platform and multimodal biorepository. Journal of Parkinson’s Disease. 2020. PubMed

Genetic, structural and functional evidence link TMEM175 to synucleinopathies.

Krohn L, Öztürk TN, Vanderperre B, Ouled Amar Bencheikh B, Ruskey JA, Laurent SB, Spiegelman D, Postuma RB, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Rudakou U, Cochen De Cock V, Young P, Wolf P, Oliva P, Zhang XK, Greenbaum L, Liong C, Gagnon JF, Desautels A, Hassin-Baer S, Montplaisir JY, Dupré N, Rouleau GA, Fon EA, Trempe JF, Lamoureux G, Alcalay RN and Gan-Or ZGenetic, structural and functional evidence link TMEM175 to synucleinopathiesAnnals of Neurology. 2020. PubMed

Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia.

Blauwendraat C, Reed X, Krohn L, Heilborn K, Bandres-Ciga S, Tan M, Gibbs R, Hernandez DG, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, Leonard H, Grenn FP, Ruskey JA, Sabir M, Ahmed S, Makarious MB, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, Pantelyat A, Hillis-Trupe AE, Dawson TM, Rosenthal LS, Albert MS, Resnick SM, Ferrucci L, Morris CM, Pletnikova O, Troncoso J, Grosset D, Lesage S, Corvol JC, Brice A, Noyce AJ, Masliah E, Wood N, Hardy J, Shulman LM, Jankovic J, Shulman JM, Heutink P, Gasser T, Cannon P, Scholz SW, Morris H, Cookson M, Nalls MA, Gan-Or Z* and Singleton A* (*equal contribution). Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia. Brain. 2020. PubMedPreprint

Analysis of common and rare VPS13C variants in late onset Parkinson disease.

Rudakou URuskey JAKrohn L, Laurent SB, Spiegelman D, Greenbaum L, Yahalom G, Desautels A,  Montplaisir JY, Fahn S, Waters CH, Levy O, Kehoe CM, Narayan S, Dauvilliers Y, Dupré N, Hassin-Baer S, Alcalay RN, Rouleau GA, Fon EA and Gan-Or ZAnalysis of common and rare VPS13C variants in late onset Parkinson disease. Neurology Genetics.  2020. PubMedPreprint

Age at Onset of Parkinson’s Disease Among Ashkenazi Jewish Patients: Contribution of Environmental Factors, LRRK2 p.G2019S and GBA p.N370S Mutations.

Yahalom G, Rigbi A, Israeli-Korn S, Krohn LRudakou URuskey JA, Benshimol L, Tsafnat T, Gan-Or Z, Hassin-Baer S and Greenbaum L. Age at Onset of Parkinson’s Disease Among Ashkenazi Jewish Patients: Contribution of Environmental Factors, LRRK2 p.G2019S and GBA p.N370S MutationsJournal of Parkinson’s Disease. 2020. PubMed

Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson’s disease. 

Ouled Amar Bencheikh BSenkevich KRudakou UYu EMufti KRuskey JAAsayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Espay AJ, Dupré N, Greenbaum L, Hassin-Baer S, Rouleau GA, Alcalay RN, Fon EA and Gan-Or Z. Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson’s disease. Neurobiology of Aging. 2020. PubMedPreprint