Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes.

Autor: Dawn E Watkins-Chow, Joanna Cooke, Ruth Pidsley, Andrew Edwards, Rebecca Slotkin, Karen E Leeds, Raymond Mullen, Laura L Baxter, Thomas G Campbell, Marion C Salzer, Laura Biondini, Gretchen Gibney, Françoise Phan Dinh Tuy, Jamel Chelly, H Douglas Morris, Johannes Riegler, Mark F Lythgoe, Ruth M Arkell, Fabrizio Loreni, Jonathan Flint, William J Pavan, David A Keays

Publikováno v: PLoS Genetics, Vol 11, Iss 11, p e1005682 (2015)

Externí odkaz: https://doaj.org/article/104fd857238b4b8189cbe2fd22c7a629

Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus.

Autor: Marika Nosten-Bertrand, Caroline Kappeler, Céline Dinocourt, Cécile Denis, Johanne Germain, Françoise Phan Dinh Tuy, Soraya Verstraeten, Chantal Alvarez, Christine Métin, Jamel Chelly, Bruno Giros, Richard Miles, Antoine Depaulis, Fiona Francis

Publikováno v: PLoS ONE, Vol 3, Iss 6, p e2473 (2008)

Patients with Doublecortin (DCX) mutations have severe cortical malformations associated with mental retardation and epilepsy. Dcx knockout (KO) mice show no major isocortical abnormalities, but have discrete hippocampal defects. We questioned the fu

Externí odkaz: https://doaj.org/article/aff3bab36c654b1b90feacad4d89878a

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

Autor: Katia Boutourlinsky, Alexandre Croquelois, Dominique Boucher, Sara Bizzotto, Jamel Chelly, Grazia Maria Mancini, Egbert Welker, Camino de Juan Romero, Anne-Gaëlle Le Moing, Jean-François Deleuze, Wassila Carpentier, Renske Oegema, Richard Belvindrah, Karine Poirier, Michel Kielar, Robert Olaso, Nadia Bahi-Buisson, Fiona Francis, Cécile Lebrand, Françoise Phan Dinh Tuy, Víctor Borrell, Patrick Berquin

Publikováno v: Nature Neuroscience
Nature Neuroscience, Nature Publishing Group, 2014, 17 (7), pp.923-933. 〈10.1038/nn.3729〉
Nature Neuroscience, Nature Publishing Group, 2014, 17 (7), pp.923-933. ⟨10.1038/nn.3729⟩
Nature neuroscience
Nature Neuroscience, vol. 17, no. 7, pp. 923-933
Nature Neuroscience, 17(7), 923-933. Nature Publishing Group
NATURE NEUROSCIENCE
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Nature Neuroscience, 2014, 17 (7), pp.923-933. ⟨10.1038/nn.3729⟩

Neuronal migration disorders such as lissencephaly and subcortical band heterotopia are associated with epilepsy and intellectual disability. DCX, PAFAH1B1 and TUBA1A are mutated in these disorders; however, corresponding mouse mutants do not show he

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27a156279b21846d5612b4fde2c0dcae
https://pure.eur.nl/en/publications/25e2216d-64fd-4e6b-a931-57d66330c069

Human disorders of cortical development: from past to present

Autor: Jamel Chelly, Gundela Meyer, Catherine Fallet-Bianco, Fiona Francis, Sarah Moreno, Caroline Kappeler, Alfredo Cabrera Socorro, Françoise Phan Dinh Tuy, Cherif Beldjord

Publikováno v: European Journal of Neuroscience. 23:877-893

Epilepsy and mental retardation, originally of unknown cause, are now known to result from many defects including cortical malformations, neuronal circuitry disorders and perturbations of neuronal communication and synapse function. Genetic approache

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76626fd97f32ecf96f8bc2d0585cca30
https://doi.org/10.1111/j.1460-9568.2006.04649.x

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes

Autor: H. Douglas Morris, Dawn E. Watkins-Chow, Raymond Mullen, Ruth M. Arkell, Françoise Phan Dinh Tuy, Laura Biondini, Ruth Pidsley, Johannes Riegler, Karen E. Leeds, Thomas G. Campbell, Andrew Edwards, Joanna Cooke, Marion Claudia Salzer, Rebecca Slotkin, Laura L. Baxter, Gretchen Gibney, Jonathan Flint, Fabrizio Loreni, Jamel Chelly, William J. Pavan, Mark F. Lythgoe, David A. Keays

Publikováno v: PLoS Genetics, Vol 9, Iss 1, p e1003094 (2013)

The ribosome is an evolutionarily conserved organelle essential for cellular function. Ribosome construction requires assembly of approximately 80 different ribosomal proteins (RPs) and four different species of rRNA. As RPs co-assemble into one mult

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e440a7ecfe5a99593a1144f10fedb84c
http://ora.ox.ac.uk/objects/uuid:0b100e13-6d6b-4827-b661-d81be015af9f