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European Journal of Medical Genetics|December 7, 2007
A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesisJoris Andrieux, Jean-Christophe Cuvellier, Bénédicte Duban-Bedu, et al.
Seizure|February 7, 2009
Comparison of seizure reduction and serum fatty acid levels after receiving the ketogenic and modified Atkins dietNatacha Porta, Louis Vallée, Elisabeth Boutry, et al.
European Journal of Pediatrics|October 29, 2020
Screening for neurodevelopmental disorders in children with congenital heart diseaseMorgane Billotte, Valérie Deken, Sylvie Joriot, et al.
American Journal of Human Genetics|July 26, 2016
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated NeuronsBrian N Harding, Amanda Moccia, Séverine Drunat, 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.
Orphanet Journal of Rare Diseases|March 29, 2012
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientLydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, et al.
JAMA Network Open|September 15, 2022
Recanalization Treatments for Pediatric Acute Ischemic Stroke in FranceManoëlle Kossorotoff, Basile Kerleroux, Grégoire Boulouis, 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.
Human Mutation|June 23, 2007
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)Karine Poirier, David A Keays, Fiona Francis, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2022
Highlighting the Dystonic Phenotype Related to GNAO1Thomas Wirth, Giacomo Garone, Manju A Kurian, et al.
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