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
Author: meron
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
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
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Lévesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame DG, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga DM, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillmann RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nat Commun. 2024. Preprint, PubMed