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European Journal of Human Genetics : EJHG|December 1, 2017
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disabilityJérémie Mortreux, Tiffany Busa, Dominique P Germain, et al.
The Journal of Comparative Neurology|November 18, 2006
Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiencyCaroline Kappeler, Marc Dhenain, Françoise Phan Dinh Tuy, et al.
Neurogenetics|August 8, 2008
The location of DCX mutations predicts malformation severity in X-linked lissencephalyPierre-Louis Leger, Isabelle Souville, Nathalie Boddaert, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 21, 2025
Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitalsCaroline Rey, Laetitia Giorgi, Hélène Maurey, et al.
Nature Medicine|June 5, 2003
A prion protein epitope selective for the pathologically misfolded conformationEustache Paramithiotis, Marc Pinard, Trebor Lawton, et al.
Archives of Neurology|August 12, 2009
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severityYoann Saillour, Nathalie Carion, Chloé Quelin, et al.
Epilepsia|April 3, 2016
Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in FranceMathilde Chipaux, William Szurhaj, Laurent Vercueil, et al.
Orphanet Journal of Rare Diseases|December 14, 2012
Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsDavid Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, et al.
Molecular Genetics and Metabolism|October 5, 2013
Creatine and guanidinoacetate reference values in a French populationMarie Joncquel-Chevalier Curt, David Cheillan, Gilbert Briand, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.
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