C. Cardoso

发表

LIS1: from cortical malformation to essential protein of cellular dynamics

D. Ledbetter, W. Dobyns, R. Leventer, 2001, Trends in Neurosciences.

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

A. Represa, D. Keays, J. Flint, 2009, Nature Genetics.

Disruption of the transcription factor NEUROD2 causes an autism syndrome via cell-autonomous defects in cortical projection neurons

J. Rosenfeld, A. Represa, B. Jacq, 2020 .

Loss of the transcription factor NEUROD2 causes a spectrum of neurobehavioral phenotypes in mice and humans

J. Rosenfeld, A. Represa, A. Bosio, 2019, bioRxiv.

Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.

C. Schwartz, V. Proud, L. Villard, 1997, Genomics.

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1)

D. Ledbetter, C. Martin, Soma Das, 2002, Human mutation.

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

A. Represa, D. Keays, J. Flint, 2011 .

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein

M. Mattei, Y. Lutz, L. Colleaux, 2000, Journal of medical genetics.

Title: Loss of the transcription factor NEUROD2 causes a spectrum of neurobehavioral phenotypes in mice and humans

Dina, A. Represa, A. Bosio, 2019 .

Disorders of neurogenesis and cortical development

Antoine de Chevigny, A. Falace, C. Cardoso, 2018, Dialogues in clinical neuroscience.

Truncation of NHEJ1 in a patient with polymicrogyria

N. Philip, D. Figarella-Branger, S. Lindsay, 2007, Human mutation.

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein.

S. Timsit, M. Khrestchatisky, L. Villard, 1998, Human molecular genetics.

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

J. Millán, C. Orellana, F. Martínez, 1999, American journal of human genetics.

Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model

Y. Ben-Ari, N. Burnashev, A. Represa, 2014, Nature Communications.

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

A. Pagnamenta, A. Represa, Jenny C. Taylor, 2017, Journal of visualized experiments : JoVE.

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32

D. Ledbetter, C. Martin, K. Millen, 2003, European Journal of Human Genetics.

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

N. Philip, W. Dobyns, R. Guerrini, 2003, Journal of medical genetics.

Abnormal Network Activity in a Targeted Genetic Model of Human Double Cortex

Y. Ben-Ari, A. Represa, L. Aniksztejn, 2009, The Journal of Neuroscience.

Cerebral Cortex doi:10.1093/cercor/bhs138 Cerebral Cortex Advance Access published May 24, 2012 An Epilepsy-Related ARX Polyalanine Expansion Modifies Glutamatergic Neurons Excitability and Morphology Without Affecting GABAergic Neurons Development

A. Represa, L. Aniksztejn, H. Becq, 2022 .

Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice

A. Becker, S. Schoch, J. Pitsch, 2016, Neurobiology of Disease.

14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller–Dieker syndrome

D. Ledbetter, L. Tsai, A. Wynshaw-Boris, 2003, Nature Genetics.

ON THE MECHANISMS OF NEURAL DEVELOPMENT IN THE VENTRAL TELENCEPHALON

A. Represa, C. Cardoso, Docent Claudio Rivera, 2016 .

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

T. Bourgeron, R. Delorme, D. Campion, 2015, European Journal of Human Genetics.

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

B. V. van Bon, R. Pfundt, B. D. de Vries, 2010, Journal of Medical Genetics.

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.

D. Ledbetter, C. Martin, J. Allanson, 2003, American journal of human genetics.

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

Carlos Cardoso, C. Rougeulle, M. Lalande, 1998, Nature Genetics.

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

I. Scheffer, E. Bertini, R. Guerrini, 2009, Neurology.

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

J. Rosenfeld, A. Represa, B. Jacq, 2021, Molecular Psychiatry.

Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero.

Y. Ben-Ari, N. Burnashev, A. Represa, 2013, Brain : a journal of neurology.

Dendritic Spine Plasticity: Function and Mechanisms

Karen Runge, Antoine de Chevigny, C. Cardoso, 2020, Frontiers in Synaptic Neuroscience.

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway

A. Represa, F. Benfenati, F. Zara, 2014, Proceedings of the National Academy of Sciences.

Mutations in Human Beta-2 b Tubulin Result in Asymmetrical Polymicrogyria

A. Represa, D. Keays, C. Fallet-Bianco, 2011 .

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

I. Scheffer, A. Pagnamenta, F. Michel, 2013, Brain : a journal of neurology.

Periventricular heterotopia in 6 q terminal deletion syndrome : role of the C 6 orf 70 gene

I. Scheffer, A. Pagnamenta, F. Michel, 2013 .

Causes and Consequences of Gray Matter Heterotopia

A. Represa, F. Watrin, Jean-Bernard Manent, 2015, CNS neuroscience & therapeutics.

phenotypes microduplications that show distinctive co-locating 17 p 13 . 3 microdeletions and Further molecular and clinical delineation of

R. Pfundt, C. Martin, A. Wallin, 2022 .

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.

A. Represa, C. Pellegrino, E. Buhler, 2012, Human molecular genetics.

Mutation in the 5′ alternatively spliced region of the XNP/ATR-X gene causes Chudley–Lowry syndrome

R. Stevenson, C. Schwartz, H. Lubs, 2005, European Journal of Human Genetics.

XNP-1/ATR-X acts with RB, HP1 and the NuRD complex during larval development in C. elegans.

N. Pujol, J. Ewbank, M. Fontès, 2005, Developmental biology.

Two affected boys in a Rett syndrome family

J. Chelly, L. Villard, M. Tardieu, 2000, Neurology.

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

D. Ledbetter, D. Pilz, W. Dobyns, 2000, Human molecular genetics.

The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders

L. Colleaux, G. Hetet, M. Fontès, 2000, European Journal of Human Genetics.

A locus for bilateral perisylvian polymicrogyria maps to Xq28.

C. Martin, J. Graham, R. Winter, 2002, American journal of human genetics.

Morphofunctional deficits in the cerebral cortex of NeuroD2 mutant mice are associated with autism/schizophrenia-like behaviors

A. Represa, A. Bosio, C. Beurrier, 2018 .

Distinct subtypes of grey matter heterotopia show subtype-specific morpho-electric neuronal properties and dynamics of epileptiform activity in mice

T. Marissal, A. Represa, I. Bureau, 2023, bioRxiv.

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

M. Fichera, C. Romano, M. Fontès, 1998, Human Mutation.