Search - Normandie Université Access content directly

Filter your results

10 Results
authFullName_s : Jamel Chelly
Image document

Role of Mental Retardation-Associated Dystrophin-Gene Product Dp71 in Excitatory Synapse Organization, Synaptic Plasticity and Behavioral Functions

Fatma Daoud , Aurora Candelario-Martínez , Jean-Marie Billard , Avi Avital , Malik Khelfaoui , et al.
PLoS ONE, 2009, 4 (8), pp.e6574. ⟨10.1371/journal.pone.0006574⟩
Journal articles hal-02325225v1
Image document

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 , et al.
Acta Neuropathologica Communications, 2014, 2 (1), pp.69. ⟨10.1186/2051-5960-2-69⟩
Journal articles inserm-01089369v1
Image document

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

Xavier Hubert Jaglin , Karine Poirier , Yoann Saillour , Emmanuelle Buhler , Guoling Tian , et al.
Nature Genetics, 2009, 41 (6), pp.746-752. ⟨10.1038/ng.380⟩
Journal articles inserm-00404834v1
Image document

Increased diagnostic yield in complex dystonia through exome sequencing

Thomas Wirth , Christine Tranchant , Nathalie Drouot , Boris Keren , Cyril Mignot , et al.
Parkinsonism & Related Disorders, 2020, 74, pp.50 - 56. ⟨10.1016/j.parkreldis.2020.04.003⟩
Journal articles hal-03490916v1

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A

Catherine Fallet-Bianco , Laurence Loeuillet , Karine Poirier , Philippe Loget , Françoise Chapon , et al.
Brain - A Journal of Neurology , 2008, 131 (9), pp.2304-2320. ⟨10.1093/brain/awn155⟩
Journal articles hal-04118095v1
Image document

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.
European Journal of Medical Genetics, 2015, 59 (4), pp.249-256. ⟨10.1016/j.ejmg.2015.12.007⟩
Journal articles hal-01259440v1

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations

Annie Laquerrière , Camille Maillard , Mara Cavallin , Françoise Chapon , Florent Marguet , et al.
Journal of Neuropathology and Experimental Neurology, 2017, 76 (3), pp.195-205. ⟨10.1093/jnen/nlw124⟩
Journal articles hal-02304847v1

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 , et al.
Acta Neuropathologica, 2010, 119 (6), pp.779-789. ⟨10.1007/s00401-010-0684-z⟩
Journal articles istex hal-02332580v1
Image document

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.
Human Mutation, 2020, 41 (1), pp.69-80. ⟨10.1002/humu.23915⟩
Journal articles hal-02302579v1
Image document

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

Claire Bar , Mathieu Kuchenbuch , Giulia Barcia , Amy Schneider , Mélanie Jennesson , et al.
Epilepsia, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Journal articles hal-02959318v1