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
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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 L, Ruskey JA, Rudakou U, Leveille E, Asayesh 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 Z. GBA variants in REM sleep behavior disorder: a multicenter study. Neurology. 2020. PubMed, Preprint
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 Disease. Acta Neuropathologica. 2020. PubMed, Preprint
Comprehensive assessment of PINK1 variants in Parkinson’s disease.
Krohn L, Wu 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 Z. Fine-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 U, Futhey NC, Krohn L, Ruskey 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 Z. SMPD1 variants do not have a major role in REM sleep behavior disorder. Neurobiology of Aging. 2020. PubMed, Preprint
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 MA, Leveille E, Spiegelman D, Dupre N, Trempe JF, Rouleau GA and Gan-Or Z. Clinical 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