Christel Depienne

Overview

Best Publications

• Analysis of shared heritability in common disorders of the brain

  Verneri Anttila;Verneri Anttila;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K. Finucane;Raymond K. Walters;Raymond K. Walters

  1978
  Citations

• Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

  Phil H. Lee;Verneri Anttila;Hyejung Won;Yen-Chen A. Feng

  1346
  Citations

• Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

  Claire S. Leblond;Caroline Nava;Anne Polge;Julie Gauthier

  704
  Citations

• Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

  Christel Depienne;Christel Depienne;Delphine Bouteiller;Boris Keren;Emmanuel Cheuret

  440
  Citations

• Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

  Dongmei Yu;Jae Hoon Sul;Fotis Tsetsos;Muhammad S Nawaz

  415
  Citations

• Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

  C Depienne;O Trouillard;C Saint-Martin;I Gourfinkel-An

  415
  Citations

• De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

  Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié

  337
  Citations

• The phenotypic spectrum of SCN8A encephalopathy

  Jan Larsen;Gemma L Carvill;Elena Gardella;Gerhard Kluger

  300
  Citations

• 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

  Christel Depienne;Christel Depienne;Jean-Louis Mandel

  284
  Citations

• Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

  Giovanni Stevanin;Hamid Azzedine;Paola Denora;Amir Boukhris

  283
  Citations

• Hereditary spastic paraplegias: an update

  Christel Depienne;Giovanni Stevanin;Alexis Brice;Alexandra Durr

  278
  Citations

• GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

  Konrad Platzer;Hongjie Yuan;Hannah Schütz;Alexander Winschel

  272
  Citations

• De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

  Arvid Suls;Johanna A. Jaehn;Angela Kecskés;Yvonne Weber

  263
  Citations

• De novo mutations in HCN1 cause early infantile epileptic encephalopathy

  Caroline Nava;Carine Dalle;Agnès Rastetter;Pasquale Striano

  262
  Citations

• Annonacin, a Natural Mitochondrial Complex I Inhibitor, Causes Tau Pathology in Cultured Neurons

  Myriam Escobar-Khondiker;Matthias Höllerhage;Marie-Paule Muriel;Pierre Champy

  230
  Citations

• Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

  Christelle Tesson;Magdalena Nawara;Magdalena Nawara;Magdalena Nawara;Mustafa A.M. Salih;Rodrigue Rossignol

  219
  Citations

• Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

  Christel Depienne;Marianna Bugiani;Celine Dupuits;Damien Galanaud

  207
  Citations

• Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

  Johannes R. Lemke;Kirsten Geider;Katherine L. Helbig;Henrike O. Heyne

  204
  Citations

• Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

  Lee Ph;Anttila;Won H

  65
  Citations

• Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

  Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

  33
  Citations