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

The landscape of parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson’s disease.

Yi W, MacDougall EJ, Tang MY, Krahn AI, Gan-Or Z, Trempe JF and Fon EA. The landscape of parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson’s diseaseHuman Molecular Genetics. 2019. PubMedPreprint

Parkinson disease age at onset GWAS: defining heritability, genetic loci and α-synuclein mechanisms. 

Blauwendraat C, Heilbron K, Vallerga CL, Bandres-Ciga S, von Coelln R, Pihlstrom L, Simon-Sanchez J, Schulte C, Sharma M, Krohn L, Siitonen A, Iwaki H, Leonard H, Noyce AJ, Tan M, Gibbs JR, Hernandez DG, Scholz SW, Jankovic J, Shulman LM, Lesage S, Corvol JC, Brice A, van Hilten JJ, Marinus J, The 23andMe Research Team, Tienari P, Majamaa K, Toft M, Grosset DG, Gasser T, Heutink P, Shulman JM, Wood N, Hardy J, Morris HR, Hinds DA, Gratten J, Visscher PM, Gan-Or Z, Nalls MA, Singleton AB, for the International Parkinson’s Disease Genomics Consortium. Parkinson disease age at onset GWAS: defining heritability, genetic loci and α-synuclein mechanisms. Movement Disorders. 2019. PubMedPreprint

Dystonia; a roadmap is needed for future genetic studies.

Gan-Or Z, Mencacci NE and Nalls MA. Dystonia; a roadmap is needed for future genetic studiesParkinsonism and Related Disorders. 2018. Editorial. PubMed