Parlar SC, Grenn FP, Kim JJ, Blauwendraat C and Gan-Or Z. Classification of GBA1 variants in Parkinson disease; the GBA1-PD browser. Movement Disorders. 2023. Preprint, PubMed
Category: Publications
Neuroanatomical correlates of genetic risk for obesity in children.
Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects.
Krohn L, Heilbron K, Blauwendraat C, Reynolds RH, Yu E, Senkevich K, Rudakou U, Estiar MA, Gustavsson EK, Brolin K, Ruskey JA, Freeman K, Asayesh F, Chia R, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Abubaker I, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Biscarini F, 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, Abril B, Boeve BF, 23andMe Research Team, Scholz SW, Ryten M, Bandres-Ciga S, Noyce A, Cannon P, Pihlstrøm L, Nalls MA, Singleton AB, Rouleau GA, Postuma RB and Gan-Or Z. Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects. Nature Communications. 2022. Preprint, PubMed
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease.
Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN and Gan-Or Z. GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease. Brain. 2022. Preprint, PubMed
TCEAL1 loss-of-function results in an X-linked dominant neurological syndrome and drives the neurological disease trait in Xq22.2 deletions
Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva-Bennett K, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński L, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Akdemir ZHC, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV and Lupski JR. TCEAL1 loss-of-function results in an X-linked dominant neurological syndrome and drives the neurological disease trait in Xq22.2 deletions. American Journal of Human Genetics. 2022. PubMed
Genome-wide contribution of common Short-Tandem Repeats to Parkinson’s Disease genetic risk.
Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson’s disease cohorts of European descent.
Hu J, Waters CH, Spiegelman D, Fon EA, Yu E, Asayesh F, Krohn L, Saini P, Alcalay RN, Hassin-Baer S, Gan-Or Z, Krainc D, Zhang B, Bustos BI and Lubbe SJ. Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson’s disease cohorts of European descent. Neurrobiology of Aging. 2022. Preprint, PubMed
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Rebelo AP, Ruiz A, Dohrn M, Wayand M, Danzi M, Beijer D, Aaron B, Vandrovcova J, Houlden H, Matalonga L, Abreu L, Rouleau GA, Estiar MA, Van der Vondel L, Gan-Or Z, Baets J, Schule R and Zuchner S. BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease. Genetics in Medicine. 2022. PubMed
No Association Between Rare TWNK Variants and Parkinson’s Disease in European Cohorts.
Senkevich K and Gan-Or Z. No Association Between Rare TWNK Variants and Parkinson’s Disease in European Cohorts. Movement Disorders. 2022. (letter). PubMed
BA1 and The Immune System – A Potential Role in Parkinson’s Disease?
Al-Azzawi ZAM, Arfaie S and Gan-Or Z. GBA1 and The Immune System – A Potential Role in Parkinson’s Disease?. Journal of Parkinson’s Disease. 2022. PubMed