Shetty A, Gan-Or Z, Ashtiania S, Ruskey JA, van de Warrenburge B, Wassenberge T, Kamsteegf EJ, Rouleau GA and Suchowersky O. CAPN1 mutations: Expanding the CAPN1-related phenotype: from hereditary spastic paraparesis to spastic ataxia. European Journal of Medical Genetics. 2018. PubMed
Author: meron
Carriers of both GBA and LRRK2 mutations compared to carriers of either in Parkinson’s disease; risk estimates and genotype phenotype correlations.
Yahalom G, Greenbaum L, Israeli-Korn S, Fay-Karmon T, Livneh V, Ruskey JA, Roncière L, Alam A, Gan-Or Z and Hassin-Baer S. Carriers of both GBA and LRRK2 mutations compared to carriers of either in Parkinson’s disease; risk estimates and genotype phenotype correlations. Parkinsonism and Related Disorders. 2018. PubMed
Common and rare GCH1 variants are associated with Parkinson disease.
Rudakou U, Ouled Amar Bencheikh B, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, Liong C, Fahn S, Waters C, Monchi O, Fon EA, Dauvilliers Y, Alcalay RN, Dupré N and Gan-Or Z. Common and rare GCH1 variants are associated with Parkinson disease. Neurobiology of Aging. 2018. PubMed
Sequencing of the GBA co-activator, Saposin C, in Parkinson disease.
Ouled Amar Bencheikh B, Leveille E, Ruskey JA, Spiegelman D, Liong C, Fon EA, Rouleau GA, Dauvilliers Y, Dupre N, Alcalay RN and Gan-Or Z. Sequencing of the GBA co-activator, Saposin C, in Parkinson disease. Neurobiology of Aging. 2018. PubMed
The GBA p.Trp378Gly mutation is a founder French-Canadian mutation causing Gaucher disease and synucleinopathies.
Ruskey JA, Zhou S, Santiago R, Franche LA, Alam A, Foncière L, Spiegelman D, Fon EA, Trempe JF, Kalia LV, Postuma RB, Dupre N, Rivard GE, Assouline S, Amato D and Gan-Or Z. The GBA p.Trp378Gly mutation is a founder French-Canadian mutation causing Gaucher disease and synucleinopathies. Clinical genetics. 2018. PubMed
GBA-associated Parkinson’s disease and other synucleinopathies.
Gan-Or Z, Liong C and Alcalay RN. GBA-associated Parkinson’s disease and other synucleinopathies. Current Neurology and Neuroscience Reports. 2018. Review. PubMed
Analysis of loss of function variants reveals that LRRK2 haploinsufficiency is not a cause of Parkinson’s Disease.
Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrom L, Gibbs RJ, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez D, Chung SJ, Goldwurm S, Toft M, Schulte C, International Parkinson’s Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB and Cookson MR. Analysis of loss of function variants reveals that LRRK2 haploinsufficiency is not a cause of Parkinson’s Disease. JAMA Neurology. 2018. PubMed
Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson’s disease.
Ruskey JA, Greenbaum L, Roncière L, Alam A, Spiegelman D, Liong C, Levy OA, Waters C, Fahn S, Marder KS, Chung W, Yahalom G, Israeli-Korn S, Livneh V, Fay-Karmon T, Alcalay RN, Hassin-Baer S and Ziv Gan-Or. Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson’s disease. European Journal of Medical Genetics. 2018. PubMed
Parkinson’s disease phenotype is influenced by the mutation in the GBA gene.
Thaler A, Bregman N, Gurevich T, Shiner T, Dror Y, Zmira O, Gan-Or Z, Orr-Urtreger A, Giladi N and Mirelman A. Parkinson’s disease phenotype is influenced by the mutation in the GBA gene. Parkinsonism and Related Disorders. 2018. PubMed
Longstanding disease-free survival in idiopathic REM sleep behavior disorder: Is neurodegeneration inevitable?
Yao C, Fereshtehnejad SM, Dawson BK, Pelletier A, Gan-Or Z, Gagnon JF, Montplaisir JY, and Postuma RB. Longstanding disease-free survival in idiopathic REM sleep behavior disorder: Is neurodegeneration inevitable? Parkinsonism and Related Disorders. 2018. PubMed