(*equal contribution) Diomedi M*, Gan-Or Z*, Placidi F, Dion PA, Szuto A, Bengala M, Rouleau GA and Gigli GL. A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated Hereditary Spastic Paraplegia. European Journal of Medical Genetics. 2016. PubMed
Category: Publications
Calpain 1 in neurodegeneration; a therapeutic target?
Gan-Or Z and Rouleau GA. Calpain 1 in neurodegeneration; a therapeutic target? Lancet Neurology. 2016. (letter). PubMed
The GBA p.T369M substitution in Parkinson disease, polymorphism or association? A meta-analysis.
Mallett V, Ross J, Alcalay RN, Ambalavanan A, Sidransky E, Dion PA, Rouleau GA and Gan-Or Z. The GBA p.T369M substitution in Parkinson disease, polymorphism or association? A meta-analysis. Neurology Genetics. 2016. PubMed
Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson’s disease.
Ross J, Dupre N, Dauvilliers Y, Strong S, Ambalavanan A, Spiegelman D, Dionne-Laporte A, Pourcher E, Langlois M, Boivin M, Leblond CS, Dion PA, Rouleau GA and Gan-Or Z. Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson’s disease. Neurobiology of Aging. 2016. PubMed
Mutations in CAPN1 Cause Autosomal Recessive Hereditary Spastic Paraplegia.
Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuck A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc F, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B. Mutations in CAPN1 Cause Autosomal Recessive Hereditary Spastic Paraplegia. American Journal of Human Genetics. 2016. PubMed
The role of the melanoma gene MC1R in Parkinson disease and REM sleep Behavior Disorder.
Gan-Or Z, Mohsin N, Girard SL, Montplaisir JY, Ambalavanan A, Strong S, Mallett V, Laurent SB, Bourassa C, Boivin M, Langlois M, Arnulf I, Högl B, Frauscher B, Monaca C, Desautels A, Gagnon JF, Postuma RB, Dion PA, Dauvilliers Y, Dupre N, Alcalay RN and Rouleau GA. The role of the melanoma gene MC1R in Parkinson disease and REM sleep Behavior Disorder. Neurobiology of Aging. 2016. PubMed
SEPT14 is associated with a reduced risk for Parkinson’s disease and expressed in human brain.
Rozenkrantz L, Gan-Or Z, Gana-Weisz M, Mirelman A, Giladi N, Bar-Shira A and Orr-Urtreger A. SEPT14 is associated with a reduced risk for Parkinson’s disease and expressed in human brain. Journal of Molecular Neuroscience. 2016. PubMed
De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia.
Leblond CS, Webber A, Gan-Or Z, Laurent SB, Hince P, Catoire H, Moore F, Dagher A, Dion PA and Rouleau GA. De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia. Neurology Genetics. 2016. PubMed
SCARB2 variants and glucocerebrosidase activity in Parkinson disease.
Alcalay RN, Levy OA, Wolf P, Oliva P, Zhang XK, Waters CH, Fahn S, Kang U, Liong C, Ford B, Mazzoni P, Kuo S, Johnson A, Xiong L, Rouleau GA, Chung W, Marder KS, and Gan-Or Z. SCARB2 variants and glucocerebrosidase activity in Parkinson disease. NPJ Parkinson’s Disease. 2016. PubMed
Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson’s Disease.
Pal GD, Hall D, Ouyang B, Phelps J, Alcalay RN, Nichols W, Clark L, Mejia-Santana H, Blasucci1 L, Goetz CG, Comella C, Colcher A, Gan-Or Z, Rouleau GA and Marder K for the CORE-PD Investigators. Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson’s Disease. Movement Disorders Clinical Practice. 2016. PubMed