Somerville EN, Krohn L, Yu E, Rudakoua U, Senkevich K, Ruskey JA, Asayesh F, Ahmad J, Spiegelman D, Dauvilliers Y, Arnulf A, Hu MTM, Montplaisir JY, Gagnon JF, Desautel A, Ibrahim A, Stefani A, Hogl B, Gigli GL, Valente M, Janes F, Bernardini A, Duseko P, Sonka K, Kemlink D, Plazzi G, Antelmi E, Biscarini F, Mollenhauert B, Trenkwalder C, Sixel-Doring F, Figorilli M, Puligheddu M, Cochen De Cock V, Ferini-Strambi L, Heibreder A, Monaca CC, Abril B, Dijkstra F, Viaene M, Boeve BF, Postuma RB, Rouleaua GA and Gan-Or Z. NPC1 variants are not associated with Parkinson’s disease, REM-sleep behaviour disorder or Dementia with Lewy bodies in European cohorts. Neurobiology of Aging. 2023. Preprint, PubMed
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Potential protective link between type I diabetes and Parkinson’s disease risk and progression.
LRRK2 and Parkinson’s disease: from genetics to targeted therapy.
Sosero YL and Gan-Or Z. LRRK2 and Parkinson’s disease: from genetics to targeted therapy. Annals of Clinical and Translationa Neurology. 2023. PubMed
Exploring the Genetic and Genomic Connection Underlying Neurodegeneration with Brain Iron Accumulation and the Risk for Parkinson’s Disease.
Jerez PA, Alcantud JL, de los Reyes-Ramírez L, Moore A, Ruz C, Vives Montero F, Rodriguez-Losada N, Saini P, Gan-Or Z, Alvarado C, Makarious MB, Billingsley KJ, Blauwendraat C, Noyce AJ, Singleton AB, Duran R and Bandres-Ciga S. Exploring the Genetic and Genomic Connection Underlying Neurodegeneration with Brain Iron Accumulation and the Risk for Parkinson’s Disease. npj Parkinson’s Disease. 2023. Preprint, PubMed
Mitochondrial function-associated genes underlie cortical atrophy in prodromal synucleinopathies.
Rahayel S, Tremblay C, Vo A, Mišić B, Lehéricy S, Arnulf I, Vidailhet M, Corvol JC, the ICEBERG Study Group, Gagnon JF, Postuma RB, Montplaisir JY, Lewis S, Matar E, Martens KE, Borghammer P, Knudsen K, Hansen AK, Monchi O, Gan-Or Z* and Dagher A* (*equal contribution). Mitochondrial function-associated genes underlie cortical atrophy in prodromal synucleinopathies. Brain. 2023. Preprint, PubMed
Classification of GBA1 variants in Parkinson disease; the GBA1-PD browser.
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