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Role of Mental Retardation-Associated Dystrophin-Gene Product Dp71 in Excitatory Synapse Organization, Synaptic Plasticity and Behavioral Functions
Fatma Daoud
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Aurora Candelario-Martínez
,
Jean-Marie Billard
,
Avi Avital
,
Malik Khelfaoui
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et al.
Journal articles
hal-02325225v1
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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly
Catherine Fallet-Bianco
,
Annie Laquerrière
,
Karine Poirier
,
Ferechte Razavi
,
Fabien Guimiot
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et al.
Journal articles
inserm-01089369v1
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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
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et al.
Journal articles
inserm-00404834v1
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Increased diagnostic yield in complex dystonia through exome sequencing
Thomas Wirth
,
Christine Tranchant
,
Nathalie Drouot
,
Boris Keren
,
Cyril Mignot
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et al.
Journal articles
hal-03490916v1
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Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A
Catherine Fallet-Bianco
,
Laurence Loeuillet
,
Karine Poirier
,
Philippe Loget
,
Françoise Chapon
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et al.
Journal articles
hal-04118095v1
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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
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et al.
Journal articles
hal-01259440v1
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Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations
Annie Laquerrière
,
Camille Maillard
,
Mara Cavallin
,
Françoise Chapon
,
Florent Marguet
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et al.
Journal articles
hal-02304847v1
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Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype
Magalie Lecourtois
,
Karine Poirier
,
Gaëlle Friocourt
,
Xavier Jaglin
,
Alice Goldenberg
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et al.
Journal articles
istex
hal-02332580v1
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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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