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Orphanet Journal of Rare Diseases|March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencingNadège Calmels, Géraldine Greff, Cathy Obringer, et al.The Journal of Clinical Investigation|September 26, 2017
Mutations in the netrin-1 gene cause congenital mirror movementsAurélie Méneret, Elizabeth A Franz, Oriane Trouillard, et al.Human Genetics|July 3, 2016
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2Lyndal Henden, Saskia Freytag, Zaid Afawi, et al.Brain : a Journal of Neurology|October 16, 2012
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathyStephan Klebe, Christel Depienne, Sylvie Gerber, et al.Human Mutation|October 26, 2017
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndromeAshley P L Marsh, Timothy J Edwards, Charles Galea, et al.Neurology|May 9, 2014
Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 casesAurélie Méneret, Christel Depienne, Florence Riant, et al.Nature Communications|September 3, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansionsLars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.Nature Communications|May 17, 2020
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activityLaure Asselin, José Rivera Alvarez, Solveig Heide, et al.Human Mutation|May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunctionCyril Goizet, Christel Depienne, Giovanni Benard, et al.The Journal of Pediatrics|March 13, 2017
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual DisabilitySolveig Heide, Boris Keren, Thierry Billette de Villemeur, et al.Pageof 18