Villard, Laurent

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., et al. (2017) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 600

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortüm, F., Fritsch, A., Pientka, F. K., et al. (2010) · Nature Genetics

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 499

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Bahi-Buisson, N., Poirier, K., Boddaert, N., Fallet-Bianco, C., Specchio, N., Bertini, E., Caglayan, O., Lascelles, K., Elie, C., Rambaud, J., et al. (2010) · Brain

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 144

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

Le Roux, M., Barth, M., Gueden, S., Desbordes de Cepoy, P., Aeby, A., Vilain, C., Hirsch, E., de Saint Martin, A., Portes, V. D., Lesca, G., et al. (2021) · European Journal of Paediatric Neurology

Epilepsy research and treatmentMigraine and Headache Studies

Cited by 75

Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse

Panayotis, N., Pratte, M., Borges-Correia, A., Ghata, A., Villard, L., & Roux, J.-C. (2011) · Neurobiology of Disease

Genetics and Neurodevelopmental DisordersParkinson's Disease Mechanisms and Treatments

Cited by 54

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., Kuechler, A., Kaya, S., Gérard, B., Schaefer, E., et al. (2022) · Nature Communications

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 47

Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain

Panayotis, N., Ghata, A., Villard, L., & Roux, J.-C. (2011) · BMC Neuroscience

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 37

Further delineation of BCAP31‐linked intellectual disability: description of 17 new families with LoF and missense variants

Whalen, S., Shaw, M., Mignot, C., Héron, D., Bastaraud, S. C., Walti, C. C., Liebelt, J., Elmslie, F., Yap, P., Hurst, J., et al. (2021) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 15

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

Srivastava, S., Macke, E. L., Swanson, L. C., Coulter, D., Klee, E. W., Mullegama, S. V., Xie, Y., Lanpher, B. C., Bedoukian, E. C., Skraban, C. M., et al. (2021) · Brain Sciences

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 14

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

Brock, S., Laquerriere, A., Marguet, F., Myers, S. J., Hongjie, Y., Baralle, D., Vanderhasselt, T., Stouffs, K., Keymolen, K., Kim, S., et al. (2023) · Journal of Medical Genetics

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 12