Author: meron
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson’s disease risk
Chew EG, Liu Z, Li Z, Chung SJ, Lian MM, Tandiono M, Heng YJ, Ng EY, Tan LC, Chng WL, Tan TJ, Peh EK, Ho YS, Chen XY, Lim EY, Chang CH, Leong JJ, Peh TX, Chan LL, Chao Y, Au WL, Prakash KM, Lim JL, Tay YW, Mok V, Chan AY, Lin JJ, Jeon BS, Song K, Tham CC, Pang CP, Ahn J, Park KH, Wiggs JL, Aung T, Tan AH, Ahmad Annuar A, Makarious MB, Blauwendraat C, Nalls MA, Robak LA, Alcalay RN, Gan-Or Z, Reynolds R, Lim SY, Xia Y, Khor CC, Tan EK, Wang Z, Foo JN. Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson’s disease risk. Nat Aging. Preprint, PubMed
Genetic-based diagnostics of Parkinson’s disease and other Parkinsonian syndromes
Somerville EN, Gan-Or Z. Genetic-based diagnostics of Parkinson’s disease and other Parkinsonian syndromes. Expert Rev Mol Diagn. Preprint, PubMed
GBA1 T369M and Parkinson’s disease – Further evidence of a lack of association in the Swedish population
Brolin KA, Bäckström D, Wallenius J, Gan-Or Z, Puschmann A, Hansson O, Swanberg M. GBA1 T369M and Parkinson’s disease – Further evidence of a lack of association in the Swedish population. Parkinsonism Relat Disord. 2024. PubMed
LRRK2 rare-variant per-domain genetic burden in Parkinson’s Disease.
Senkevich K, Parlar SC, Chantereault C, Yu E, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Waters C, Monchi O, Dauvilliers Y, Dupré N, Miliukhina I, Timofeeva A, Emelyanov A, Pchelina S, Greenbaum L, Hassin-Baer S, Alcalay RN, Gan-Or Z. Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease? NPJ Parkinsons Dis. Preprint, PubMed
Plasma glucosylceramide levels are regulated by ATP10D and are not involved in Parkinson’s disease pathogenesis.
Somerville EN, James A, Beetz C, Schwieger R, Barrel G, Kandaswamy KK, Iurascu MI, Bauer P, Ta M, Iwaki H, Senkevich K, Yu E, Alcalay RN and Gan-Or Z. Plasma glucosylceramide levels are regulated by ATP10D and are not involved in Parkinson’s disease pathogenesis. Under review. Preprint, Pubmed
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.
Hengel H, Hannan SB, Reich S, Beijer D, Roller J, Gilsbach BK, Gloeckner CJ, Greene D, Timmann D, Depienne C, Mumford A, O’Driscoll M, Nemeth AH, Lundberg J, Rodan LH, Bruel AL, Delanne J, Baets J, Gan-Or Z, Rouleau G, Suchowersky O, Estiar MA, Reich S, Toro C, Züchner S, Hazan J, Pétursson H, Harmuth F, Bauer C, Bauer P, Turro E, Lambright D, Schöls L and Synofzik M. Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism. Under review. Preprint, PubMed
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.
Estiar MA, Yu E, Varghaei P, Ross JP, Ashtiani S, Bayne AN, Coarelli G, Timmann D, lockgether T, Beijer D, Mengel D, Coutelier M, Project MinE ALS Sequencing Consortium, Dion PA, Suchowersky O, Ewenczyk C, Goizet C, Van Damme P, Al-Chalabi A, Zuchner S, Synofzik M, Veldink JH, Trempe JF, Durr A, Rouleau GA and Gan-Or Z. Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders. Under review. Preprint, PubMed
Plasma biomarkers of Alzheimer’s pathology identify prodromal dementia with Lewy bodies.
Delva A, Pelletier A, Somerville E, Montplaisir J, Gagnon JF, Kollmorgen G, Kam-Thong T, Kustermann T, Machado V, Gan-Or Z and Postuma RB. Plasma biomarkers of Alzheimer’s pathology identify prodromal dementia with Lewy bodies. Under review. Preprint, PubMed
Lack of Epistatic Interaction of SNCA with APOE in Synucleinopathies.
Saini P, Yu E, Estiar MA, Krohn L, Mufti K, Rudakou U, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Trempe JF, Quinnell TG, Oscroft N, Arnulf I, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Sonka K, Kemlink D, Oertel W, Kaivola K, International LBD Genomics Consortium, Janzen A, Plazzi G, Antelmi E, Biscarini F, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Doring F, Cochen De Cock V, Monaca CC, Grosset D, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA, Anselmi V, Ibrahim A, Stefani A, Hogl B, Hu MTM, Scholz SW and Gan-Or Z. Lack of Epistatic Interaction of SNCA with APOE in Synucleinopathies. Under review. Preprint, PubMed