Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

E. Sidransky, Mike A. Nalls, Jan Aasly, +59

New England Journal of Medicine

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

Suzanne Lesage, Mathieu Anheim, Christel Condroyer, +31

Human Molecular Genetics

GeneticsGenetic EpidemiologyPathologyNeurochemical BiomarkersDisease Gene Identification +14

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

Mathieu Anheim, Alexis Elbaz, Suzanne Lesage, +7

Neurology

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

Suzanne Lesage, Isabelle Le Ber, Christel Condroyer, +10

Brain

Motor DysfunctionCorticobasal DegenerationGeneticsPathologyMendelian Disorder +16

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Élise Boulanger-Scemama, Saïd El Shamieh, Vanessa Démontant, +11

Orphanet Journal of Rare Diseases

Loss-of-function mutations in <i>RAB39B</i> are associated with typical early-onset Parkinson disease

Suzanne Lesage, José Brás, Florence Cormier‐Dequaire, +13

Neurology Genetics

Identification of <i>VPS35</i> mutations replicated in French families with Parkinson disease

Suzanne Lesage, Christel Condroyer, Sonja Klebe, +28

Neurology

GeneticsMolecular BiologyDisease Gene IdentificationGenetic DisordersGenetic Medicine +19

Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

Marion Neuillé, Saïd El Shamieh, Elise Orhan, +9

PLoS ONE

GeneticsOptogeneticsSignaling PathwayStationary Nob PhenotypeCcsnb Genes +16

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

Suzanne Lesage, Étienne Patin, Christel Condroyer, +22

Human Molecular Genetics

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

Ajoy Vincent, Isabelle Audo, Erika Tavares, +36

The American Journal of Human Genetics

Biallelic MutationsGnb3 CauseMendelian DisorderOphthalmologyGenetic Disorder +5