Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Isabelle Souville"'
Autor:
Reham Khalaf-Nazzal, Nadia Bahi-Buisson, Cherif Beldjord, Anne Houdusse, Jamel Chelly, Caroline Elie, Carolyn A. Moores, Franck J. Fourniol, Pierre Louis Leger, Aurélie Toussaint, Marie Hully, Isabelle Souville, Jean Yves Lemaitre, Nathalie Boddaert, Karine Poirier, Fiona Francis
Publikováno v:
Brain. 136:223-244
X-linked isolated lissencephaly sequence and subcortical band heterotopia are allelic human disorders associated with mutations of doublecortin (DCX), giving both familial and sporadic forms. DCX encodes a microtubule-associated protein involved in n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af5a5ef0708a3f1adbb2461b5507a381
https://doi.org/10.1093/brain/aws323
https://doi.org/10.1093/brain/aws323
Autor:
Oriane Trouillard, Rima Nabbout, Olivier Dulac, Delphine Héron, Cherif Beldjord, Jamel Chelly, Thierry Bienvenu, Christel Depienne, Mathilde Chipaux, Nadia Bahi-Buisson, Alexandra Afenjar, Isabelle Souville, Eric LeGuern, Benoit Girard
Publikováno v:
Epilepsy Research. 87:25-30
Summary Background Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome (DS) is a distinctive epilepsy syndrome often associated with de novo mutations in the SCN1A gene. However, 25–30% patients with SMEI/DS are negative for SCN1A mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8f1668c0835ab5664c00e8c9023cefd
https://doi.org/10.1016/j.eplepsyres.2009.07.004
https://doi.org/10.1016/j.eplepsyres.2009.07.004
Autor:
Jamel Chelly, Pierre-Louis Leger, Nadia Bahi-Buisson, Yoann Saillour, L. Castelnau, Nathalie Boddaert, Isabelle Souville, Perrine Plouin, Karine Poirier, Cherif Beldjord, N. Carion
Publikováno v:
Revue Neurologique. 164:995-1009
Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b7c1151eaeef448daf13ebb10f0b0f5
https://doi.org/10.1016/j.neurol.2008.04.006
https://doi.org/10.1016/j.neurol.2008.04.006
Autor:
Jamel Chelly, Franck J. Fourniol, Catherine Fallet Bianco, Isabelle Souville, Caroline Elie, Yoann Saillour, Nathalie Boddaert, Nadia Bahi-Buisson, Nicolas Lebrun, Karine Poirier, Stéphanie Valence, Cherif Beldjord, Marie Hully, Karine Lascelles
Publikováno v:
Brain : a journal of neurology. 137(Pt 6)
Complex cortical malformations associated with mutations in tubulin genes: TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB5 and TUBG1 commonly referred to as tubulinopathies, are a heterogeneous group of conditions with a wide spectrum of clinical severity. Among
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d47d50fb254f8fd2871a3991ad74e451
https://pubmed.ncbi.nlm.nih.gov/24860126
https://pubmed.ncbi.nlm.nih.gov/24860126
Autor:
Mireille Cossée, Catherine Chiron, Aurore Curie, Damien Sanlaville, Thierry Bienvenu, Caroline Rooryck-Thambo, Philippe Briot, Karine Poirier, S. Marignier, Anne de Saint Martin, Sophie Bertrand, Isabelle Mortemousque, Didier Lacombe, Nouchine Hadjikhani, Silvia Sacco, Amandine Brun, Randy L. Gollub, Christophe Philippe, Jamel Chelly, Karine Delange, Gérald Bussy, Alice C. Roy, Bruno Leheup, Yves Paulignan, Isabelle Souville, Fanny Rochefort, Jian Kong, Renaud Touraine, Brigitte Gilbert-Dussardier, Fabienne Prieur, Annick Toutain, Eric Bieth, Didier Kauffmann, Tatjana A. Nazir, Isabelle Bobillier-Chaumont, M. Till, Anne Reboul, Vincent Laugel, Sonya Freeman, Anne Cheylus, Vincent des Portes, Bénédicte de Fréminville
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9, pp.25. 〈10.1186/1750-1172-9-25〉
Orphanet Journal of Rare Diseases, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9, pp.25. 〈10.1186/1750-1172-9-25〉
International audience; BACKGROUND: The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. While in certain cases c.429_452dup24 has been associated with specific clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78656f55bc69e515a3565536ddae94c0
https://hal.science/hal-01020483/document
https://hal.science/hal-01020483/document
Autor:
Franck J. Fourniol, Marine Line Jacquemont, Karine Poirier, Fiona Francis, Jamel Chelly, Isabelle Souville, Nathalie Boddaert, Jean Marie Lepage, Nadia Bahi-Buisson, Stéphanie Valence, Yoann Saillour, Cherif Beldjord, Isabelle Desguerre
Publikováno v:
European journal of human genetics : EJHG. 21(4)
De novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders, ranging from lissencephaly to perisylvian pachygyria. Recently, one family with polymicrogyria (PMG) and mutation in TUBA1A was reported. Hence,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd7b9815a131416ec2cb695b636c6bb0
https://pubmed.ncbi.nlm.nih.gov/22948023
https://pubmed.ncbi.nlm.nih.gov/22948023
Autor:
Nadia Bahi-Buisson, Yoann Saillour, Chloé Quélin, Cherif Beldjord, Anne Elodie Millisher-Bellaiche, Isabelle Souville, Nathalie Boddaert, Jamel Chelly, Karine Poirier, Marie Ange N’Guyen-Morel, Laurent Vercueil, Fanny Dubois
Publikováno v:
Neurogenetics. 13(4)
Subcortical band heterotopia (SBH) is a neuronal migration disorder usually described in females carrying heterozygous mutations in the X-linked doublecortin (DCX) gene. Hemizygous DCX mutations in males result in lissencephaly. Recently, exonic dele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8034153bcf3304c69ccacaa56d2691f0
https://pubmed.ncbi.nlm.nih.gov/22833188
https://pubmed.ncbi.nlm.nih.gov/22833188
Autor:
Perrine Plouin, Pierre-Louis Leger, Hilde Van Esch, Marie Laure Moutard, Fiona Francis, Cherif Beldjord, N Bahi-Buisson, Jean Marc Pinard, Jamel Chelly, Jean Louis Renard, Isabelle Souville, Caroline Elie, Vincent des Portes, Sylvie Joriot, Nathalie Boddaert
Publikováno v:
neurogenetics
neurogenetics, Springer Verlag, 2008, 9, pp.Issue : 4 Pages : 277-285. 〈10.1007/s10048-008-0141-5〉
neurogenetics, Springer Verlag, 2008, 9, pp.Issue : 4 Pages : 277-285. ⟨10.1007/s10048-008-0141-5⟩
neurogenetics, Springer Verlag, 2008, 9, pp.Issue : 4 Pages : 277-285. 〈10.1007/s10048-008-0141-5〉
neurogenetics, Springer Verlag, 2008, 9, pp.Issue : 4 Pages : 277-285. ⟨10.1007/s10048-008-0141-5⟩
International audience; Lissencephaly spectrum (LIS) is one of the most severe neuronal migration disorders that ranges from agyria/pachygyria to subcortical band heterotopia. Approximately 80% of patients with the LIS spectrum carry mutations in eit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bbad81bb66758fe15bba117f12e86b1
https://pubmed.ncbi.nlm.nih.gov/18685874
https://pubmed.ncbi.nlm.nih.gov/18685874
Autor:
Perrine Plouin, Karine Poirier, Karine Lascelles, Yoann Saillour, Cherif Beldjord, Isabelle Caubel, Anna Kaminska, Sylviane Peudonnier, Nathalie Boddaert, Isabelle Souville, Nadia Bahi-Buisson, Jamel Chelly, Monika Eisermann, Olivier Dulac
Publikováno v:
Epilepsy research. 80(2-3)
Mutations in the ARX gene are responsible for a wide variety of mental retardation conditions including X-linked infantile spasms (ISSX) and generalized dystonia. However, electroclinical descriptions in patients with ISSX carrying ARX mutations are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afa04a0511bfd29dd6ef0c6315a2d57b
https://pubmed.ncbi.nlm.nih.gov/18468866
https://pubmed.ncbi.nlm.nih.gov/18468866
Autor:
Isabelle Souville, Fiona Francis, Gundela Meyer, Jamel Chelly, Evelyne Souil, Caroline Kappeler, Cherif Beldjord, Yoann Saillour, Françoise Phan Dinh Tuy, Marc Dhenain, Catherine Fallet-Bianco, Jean-Marc Pinard, Andreas Volk, Férechté Encha-Razavi, Serge Marty
Publikováno v:
The Journal of comparative neurology. 500(2)
Mutated doublecortin (DCX) gives rise to severe abnormalities in human cortical development. Adult Dcx knockout mice show no major neocortical defects but do have a disorganized hippocampus. We report here the developmental basis of these hippocampal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1df0bf4d8ddd994253cca17cd527cc18
https://pubmed.ncbi.nlm.nih.gov/17111359
https://pubmed.ncbi.nlm.nih.gov/17111359