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LIS1-Related Isolated Lissencephaly
Yoann Saillour
,
Nathalie Carion
,
Chloe Quelin
,
Pierre-Louis Leger
,
Nathalie Boddaert
et al.
Journal articles
hal-01104698v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry
,
Geeske M van Woerden
,
Thomas Besnard
,
Martina Proietti Onori
,
Xénia Latypova
et al.
Journal articles
inserm-01813739v1
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Variants in CUL4B are Associated with Cerebral Malformations
Anneke T. Vulto-van Silfhout
,
Tadashi Nakagawa
,
Nadia Bahi-Buisson
,
Stefan A. Haas
,
Hao Hu
et al.
Journal articles
hal-01116441v1
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Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase
France Tuffery-Giraud
,
Christophe Béroud
,
France Leturcq
,
Rabah Ben Yaou
,
Dalil Hamroun
et al.
Journal articles
hal-01681838v1
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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Xavier Hubert Jaglin
,
Karine Poirier
,
Yoann Saillour
,
Emmanuelle Buhler
,
Guoling Tian
et al.
Journal articles
inserm-00404834v1
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Correction: The landscape of epilepsy-related GATOR1 variants
Sara Baldassari
,
Fabienne Picard
,
Nienke E. Verbeek
,
Marjan van Kempen
,
Eva Brilstra
et al.
Journal articles
hal-02066352v1
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Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
Julia Lauer Zillhardt
,
Karine Poirier
,
Loic Broix
,
Nicolas Lebrun
,
Adrienne Elmorjani
et al.
Journal articles
hal-01313739v1
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Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.
Aurélie Nicolas
,
Céline Lucchetti-Miganeh
,
Rabah Ben Yaou
,
Jean-Claude Kaplan
,
Jamel Chelly
et al.
Journal articles
inserm-00736304v1
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De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: an unusual presentation of tubulinopathy
Annie Laquerrière
,
Marie Gonzales
,
Yoann Saillour
,
Mara Cavallin
,
Nicole Joyē
et al.
Journal articles
hal-01259440v1
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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
Claire Bar
,
Giulia Barcia
,
Mélanie Jennesson
,
Gwenaël Le Guyader
,
Amy Schneider
et al.
Journal articles
hal-02302579v1
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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
Claire Bar
,
Mathieu Kuchenbuch
,
Giulia Barcia
,
Amy Schneider
,
Mélanie Jennesson
et al.
Journal articles
hal-02959318v1
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