Laurent Villard

Overview

Best Publications

• Mutations in a Putative Global Transcriptional Regulator Cause X-linked Mental Retardation With Alpha-Thalassemia (ATR-X Syndrome)

  Richard J Gibbons;David J Picketts;Laurent Villard;Douglas R Higgs

  685
  Citations

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

  Sabine Endele;Georg Rosenberger;Kirsten Geider;Bernt Popp

  572
  Citations

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

  Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada

  570
  Citations

• MECP2 mutations account for most cases of typical forms of Rett syndrome

  Thierry Bienvenu;Alain Carrié;Nicolas de Roux;Marie-Claude Vinet

  359
  Citations

• Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice.

  Jean-Charles Viemari;Jean-Christophe Roux;Andrew K Tryba;Véronique Saywell

  336
  Citations

• Two affected boys in a Rett syndrome family: Clinical and molecular findings

  L. Villard;A. Kpebe;C. Cardoso;J. Chelly

  253
  Citations

• MECP2 mutations in males

  Laurent Villard

  213
  Citations

• Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome

  Jean-Christophe Roux;Emmanuelle Dura;Emmanuelle Dura;Anne Moncla;Anne Moncla;Josette Mancini

  196
  Citations

• Specific Interaction between the XNP ATR-X Gene Product and the SET Domain of the Human EZH2 Protein

  Carlos Cardoso;Serge Timsit;Laurent Villard;Michel Khrestchatisky

  177
  Citations

• Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

  Mathieu Milh;Nathalie Villeneuve;Mondher Chouchane;Anna Kaminska

  165
  Citations

• Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

  Julien Thevenon;Mathieu Milh;François Feillet;Judith St-Onge

  145
  Citations

• Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

  Carlos Cardoso;Amber Boys;Ellena Parrini;Cecile Mignon-Ravix

  143
  Citations

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

  Nadia Bahi-Buisson;Karine Poirier;Nathalie Boddaert;Catherine Fallet-Bianco

  140
  Citations

• Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

  N Bahi-Buisson;K Poirier;N Boddaert;Y Saillour

  136
  Citations

• Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

  N. Philip;B. Chabrol;A. M. Lossi;C. Cardoso

  134
  Citations

• Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

  M A Mencarelli;A Spanhol-Rosseto;R Artuso;D Rondinella

  131
  Citations

• XNP mutation in a large family with Juberg-Marsidi syndrome.

  Laurent Villard;Josef Gecz;Jean François Mattéi;Michel Fontés

  131
  Citations

• A locus for bilateral perisylvian polymicrogyria maps to Xq28.

  Laurent Villard;Karine Nguyen;Carlos Cardoso;Carlos Cardoso;Christa Lese Martin

  129
  Citations

• Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients

  Claire Braybrook;Steven Lisgo;Kit Doudney;Deborah Henderson

  126
  Citations

• Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy

  Mathieu Milh;Antonio Falace;Nathalie Villeneuve;Nicola Vanni

  119
  Citations