Blog

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 ZSCARB2 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

Case-control and family based association study of PTPRD in Restless Legs Syndrome.

Gan-Or Z, Zhou S, Johnson A, Montplaisir JY, Allen RP, Earley CJ, Desautels A, Dion PA, Xiong L and Rouleau GA. Case-control and family based association study of PTPRD in Restless Legs Syndrome. Movement Disorders Clinical Practice. 2016. PubMed

Down-regulation of B cell related genes in peripheral blood leukocytes of GBA-associated Parkinson’s disease. 

Kobo H, Bar-Shira A, Dahary D, Gan-Or Z, Goldstein O, Giladi N and Orr-Urtreger A. Down-regulation of B cell related genes in peripheral blood leukocytes of GBA-associated Parkinson’s disease. Molecular Genetics and Metabolism. 2016. PubMed

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orrù S, Brunet D, Bouchard JP, Awadalla P, Dupré N, Dion PA and Rouleau GA. Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis. Neurobiology of aging. 2016. PubMed

The emerging role of SMPD1 mutations in Parkinson’s disease; implications for future studies.

Gan-Or Z, Orr-Urtreger A, Alcalay RN, Bressman S,Giladi N and Rouleau GA. The emerging role of SMPD1 mutations in Parkinson’s disease; implications for future studies. Parkinsonism and Related Disorders. 2015. (letter). PubMed

The Alzheimer disease BIN1 locus as a modifier of GBA-associated Parkinson disease

Gan-Or Z, Amshalom I, Bar-Shira A, Gana-Weisz M, Mirelman A, Marder K, Bressman S, Giladi N, and Orr-Urtreger A. The Alzheimer disease BIN1 locus as a modifier of GBA-associated Parkinson disease. Journal of Neurology. 2015. PubMed

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

Gan-Or Z, Mirelman A, Postuma RB, Arnulf I, Bar-Shira A, Dauvilliers Y, Desautels A, Gagnon JF, Leblond CS, Frauscher B, Alcalay RN, Saunders-Pullman R, Bressman SB, Marder K, Monaca C, Hogl B, Orr-Urtreger A, Dion PA, Montplaisir JY, Giladi N and Rouleau GA. GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder. Annals of clinical and translational neurology. 2015. PubMed

Genetic perspective on the role of the Autophagy-Lysosome Pathway in Parkinson disease

Gan-Or Z, Dion PA and Rouleau GA. Genetic perspective on the role of the Autophagy-Lysosome Pathway in Parkinson disease. Autophagy. 2015. (review). PubMed