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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 21, 2009
Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 geneNadia Bahi-Buisson, Benoit Girard, Agnes Gautier, et al.
Brain : a Journal of Neurology|June 17, 2022
Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegiaYosuke Hashimoto, Karine Poirier, Nathalie Boddaert, et al.
Brain : a Journal of Neurology|August 2, 2008
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1ACatherine Fallet-Bianco, Laurence Loeuillet, Karine Poirier, et al.
European Journal of Medical Genetics|July 7, 2012
Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysisChloe Quelin, Yoann Saillour, Karine Poirier, et al.
Human Molecular Genetics|November 2, 2013
Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdownYoann Saillour, Loïc Broix, Elodie Bruel-Jungerman, et al.
European Journal of Medical Genetics|October 18, 2024
Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisalGiulia Barcia, Giovanna Scorrano, Marlène Rio, et al.
Journal of Medical Genetics|August 24, 2019
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizuresLaurence Hubert, Magda Cannata Serio, Laure Villoing-Gaudé, et al.
Brain Research. Molecular Brain Research|March 3, 2004
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neuronsKarine Poirier, Hilde Van Esch, Gaëlle Friocourt, et al.
Neurogenetics|September 28, 2013
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyriaStéphanie Valence, Karine Poirier, Nicolas Lebrun, et al.
European Journal of Medical Genetics|January 7, 2016
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathyAnnie Laquerriere, Marie Gonzales, Yoann Saillour, et al.
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