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 Assessing non-Mendelian Inheritance in Inherited Axonopathies.

Bis-Brewer DM, Gan-Or Z, Sleiman P, Inherited Neuropathy Consortium, Hakonarson H, Fazal S,  Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupre N, Cheng A, Lloyd TE, Rouleau GA, Schüle R and Züchner S. Assessing non-Mendelian Inheritance in Inherited Axonopathies. Genetics in Medicine. 2020. PubMed

GBA variation and susceptibility to multiple system atrophy.

Wernick AI, Walton RL, Koga S, Soto-Beasley AI, Heckman MG, Gan-Or Z, Ren Y, Rademakers R, Uitti RJ, Wszolek ZK, Cheshire WP, Dickson DW and Ross OA. GBA variation and susceptibility to multiple system atrophy. Parkinsonism and Related Disorders. 2020. 77:64-69. PubMed

Krohn LRuskey JARudakou ULeveille EAsayesh F, Hu MTM, Arnulf I, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Beatriz A, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Boeve BF, Espay AJ, 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, Desautels A, Montplaisir JY, Postuma RB, Rouleau GA and Gan-Or ZGBA variants in REM sleep behavior disorder: a multicenter study. Neurology. 2020. PubMedPreprint

Large-scale Pathway Specific Polygenic Risk and Transcriptomic Community Network Analysis Identifies Novel Functional Pathways in Parkinson Disease.

Bandres-Ciga S, Saez-Atienzar S, Kim JJ, Makarious MB, Faghri F, Diez-Fairen M, Iwaki H, Leonard H, Botia J, Ryten M, Hernandez D, Gibbs JR, Ding J, Gan-Or Z, Noyce A , Pihlstrom L, Torkamani A, Scholz SW, Traynor B, Ehrlich D, Scherzer CR,Bookman M, Cookson M, Blauwendraat C, Nalls MA and Singleton AB. Large-scale Pathway Specific Polygenic Risk and Transcriptomic Community Network Analysis Identifies Novel Functional Pathways in Parkinson DiseaseActa Neuropathologica. 2020. PubMedPreprint

Comprehensive assessment of PINK1 variants in Parkinson’s disease.

Krohn L, Grenn FP, Makarious MB, Kim JJ, Bandres-Ciga S, Roosen DA, Gan-Or Z, Nalls MA, Singleton AB and Blauwendraat C. Comprehensive assessment of PINK1 variants in Parkinson’s disease. Neurobiology of Aging. 2020. PubMed Preprint

Krohn LWu 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, Beatriz A, 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 and Gan-Or ZFine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies. Annals of Neurology. 2020. PubMed Preprint

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