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Classification of GBA variants and their effects in synucleinopathies.

Gan-Or Z, Alcalay RN, Makarious MB, Scholz SW, Blauwendraat C and the International Parkinson’s Disease Genomics Consortium (IPDGC). Classification of GBA variants and their effects in synucleinopathiesMovement Disorders. 2019. PubMed

Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrom L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, The 23andMe Research Team, System Genomics of Parkinson’s Disease (SGPD) Consortium, Sutherland M, Tienari P, Majamaa K, Toft M, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood N, Hinds DA, Hardy J, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB, for the International Parkinson’s Disease Genomics Consortium. Identification of novel risk loci, causal insights, and heritable risk for Parkinson’s disease: a meta-analysis of genome-wide association studies. Lancet Neurology. 2019. PubMedPreprint

The Parkinson’s Disease Mendelian Randomization Research Portal. 

Noyce A, Bandres Ciga S, Kim J, Heilbron K, kia D, Hemani G, Xue A, Lawlor DA, Smith GD, Duran R, Gan-Or Z, Blauwendraat C, Gibbs R, 23andMe, International Parkinson’s Disease Genomics Consortium, Hinds D, Yang P, Visscher PM, Cuzick J, Morris H, Hardy J, Wood N, Nalls MA and Singleton AB. The Parkinson’s Disease Mendelian Randomization Research Portal. Movement Disorders. 2019. PubMedPreprint

Revisiting Protein Aggregation as Pathogenic in Sporadic Parkinson’s and Alzheimer’s Diseases.

Espay AJ, Vizcarra JA, Marsili L, Lang AE, Simon DK, Merola A, Josephs KA, Fasano A, Morgante F, Savica R, Greenamyre T, Cambi F, Yamasaki TR, Tanner CM, Gan-Or Z, Litvan I, Mata IF, Zabetian CP, Brundin P, Fernandez HH, Standaert DG, Kauffman MA, Sherer T, Perry G and Leverenz JB. Revisiting Protein Aggregation as Pathogenic in Sporadic Parkinson’s and Alzheimer’s DiseasesNeurology. 2019. PubMed

Neurodegenerative Risk and Predictors of Outcome in Idiopathic REM sleep Behavior Disorder: A Prospective Multicenter study. 

Postuma RB, Iranzo A, Hu M, Högl B, Boeve B, Manni R, Oertel W, Arnulf I, Ferini-Strambi L, Puligheddu M, Antelmi E, De Cock VC, Arnaldi D, Mollenhauer B, Videnovic A, Sonka K, Jung KY, Kunz D, Dauvilliers Y, Provini F, Lewis SJ, Buskova J, Pavlova M, Heidbreder A, Montplaisir JY,Santamaria J, Barber TR, Stefani A, St-Louis E, Terzaghi M, Janzen A, Leu-Semenescu S, Plazzi G, Nobili F, Sixel-Doering F, Dusek P, Bes E, Cortelli P, Martens KE, Gagnon JF, Gaig C, Zucconi M, Trenkwalder C, Gan-Or Z, Lo C, Rolinski M, Mahlknecht P, Holzknecht E, Toscano G, Mayer G, Morbelli S, Dawson B, Pelletier A and the International REM sleep Behavior Disorder Study Group. Neurodegenerative Risk and Predictors of Outcome in Idiopathic REM sleep Behavior Disorder: A Prospective Multicenter studyBrain. 2019. PubMed

Alcalay RN, Mallett V, Vanderperre B, Tavassoly O, Dauvilliers Y, Wu YJRRuskey JA, Leblond CS, Ambalavanan A, Laurent SB, Spiegelman D, Dionne-Laporte A, Liong C, Levy OA, Fahn S, Waters C, Kuo SH, Chung WK, Ford B, Marder KS, Kang UJ, Hassin-Baer S, Greenbaum L, Trempe JF, Wolf P, Oliva P, Zhang XK, Clark LN, Langlois M, Dion PA, Fon EA, Dupre N, Rouleau GA and Gan-Or ZSMPD1 mutations, activity and a-synuclein accumulation in Parkinson’s diseaseMovement Disorders. 2019. PubMed

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. 

Farazi Fard MA, Rebelo AP, Buglo B, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi M, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S and Faghihi MA. Truncating Mutations in UBAP1 Cause Hereditary Spastic ParaplegiaAmerican Journal of Human Genetics. 2019. PubMed

Glucocerbrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia.

Honeycutt L, Montplaisir JY, Gagnon JF, Ruskey JA, Pelletier A, Gan-Or Z* and Postuma RB*. (*co-corresponding authors). Glucocerbrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia. Parkinsonism and Related Disorders. 2019. PubMed

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset.

Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH, Zhang D, Simpson MA, Blauwendraat C, Gan-Or Z, Gibbs JR, Nalls MA, Singleton A, International Parkinson’s Disease Genomics Consortium (IPDGC), Ryten M and Sulev Koks. Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset. NPJ Parkinson’s Disease. 2019PubMedPreprint

The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson disease.

Bandres-Ciga S, Saez-Atienzar S, Bonet-Ponce L, Billingsley K, Vitale D, Blauwendraat C, Gibbs JR, Pihlstrom L, Gan-Or Z, The International Parkinson’s Disease Genomics Consortium (IPDGC), Cookson MR, Nalls MA and Singleton AB. The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson diseaseMovement Disorders. 2019. PubMed