Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Jean Bernard Manent"'
Autor:
Antonio Falace, Lea Corbieres, Catia Palminha, Fabrizia Claudia Guarnieri, Fabienne Schaller, Emmanuelle Buhler, Clara Tuccari di San Carlo, Aurelie Montheil, Françoise Watrin, Jean Bernard Manent, Alfonso Represa, Antoine de Chevigny, Emilie Pallesi-Pocachard, Carlos Cardoso
Publikováno v:
Neurobiology of Disease, Vol 198, Iss , Pp 106558- (2024)
Summary: Periventricular nodular heterotopia (PNH), the most common brain malformation diagnosed in adulthood, is characterized by the presence of neuronal nodules along the ventricular walls. PNH is mainly associated with mutations in the FLNA gene
Externí odkaz:
https://doaj.org/article/37d7b088097045a18936a2b46622b1a4
Autor:
Kalliopi Moustaki, Emmanuelle Buhler, Robert Martinez, Françoise Watrin, Alfonso Represa, Jean-Bernard Manent
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 13 (2019)
Studies conducted in human and rodent models have suggested that preexisting neurodevelopmental defects could predispose immature brains to febrile seizures (FS). However, the impact of the anatomical extent of preexisting cortical malformations on F
Externí odkaz:
https://doaj.org/article/913e7ff62cda4a02b9aa028339f48151
Autor:
Delphine Hardy, Emmanuelle Buhler, Dmitrii Suchkov, Antonin Vinck, Aurélien Fortoul, Françoise Watrin, Alfonso Represa, Marat Minlebaev, Jean-Bernard Manent
Publikováno v:
Neurobiology of Disease
Neurobiology of Disease, 2023, 177, pp.106002. ⟨10.1016/j.nbd.2023.106002⟩
Neurobiology of Disease, 2023, 177, pp.106002. ⟨10.1016/j.nbd.2023.106002⟩
Malformations of cortical development represent a major cause of epilepsy in childhood. However, the pathological substrate and dynamic changes leading to the development and progression of epilepsy remain unclear. Here, we characterized an etiology-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff4588bb39e1be867b63c514e5b8a112
https://doi.org/10.1016/j.nbd.2023.106002
https://doi.org/10.1016/j.nbd.2023.106002
Autor:
Alfonso Represa, Françoise Watrin, Fanny Sandrine Martineau, Francesca Sargolini, Emmanuelle Buhler, Jean-Bernard Manent, Bruno Poucet, Lauriane Fournier
Publikováno v:
Brain Research
Brain Research, Elsevier, 2019, 1711, pp.146-155
Brain Research, 2019, 1711, pp.146-155
Brain Research, Elsevier, 2019, 1711, pp.146-155
Brain Research, 2019, 1711, pp.146-155
Subcortical band heterotopia (SBH), also known as doublecortex syndrome, is a malformation of cortical development resulting from mutations in the doublecortin gene (DCX). It is characterized by a lack of migration of cortical neurons that accumulate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a77aba0076da32a1758d50c4582fc11
https://doi.org/10.1016/j.brainres.2019.01.030
https://doi.org/10.1016/j.brainres.2019.01.030
Autor:
François Beaubien, Franck Bielle, Frank Bradke, Frédéric Charron, Alain Chédotal, Jean-François Cloutier, Christopher L. Cunningham, Fernando de Castro, Kevin C. Flynn, Fernando García-Moreno, Sonia Garel, R.J. Giger, Wesley B. Grueber, K. Hayashi, Zhigang He, Holden Higginbotham, Katrine Iversen, Artur Kania, Eyal Karzbrun, Arnold R. Kriegstein, Zeljka Krsnik, Christophe Laumonnerie, Julie L. Lefebvre, Fanny Lepiemme, Guangnan Li, Joseph J. LoTurco, Le Ma, Jean-Bernard Manent, Julie Marocha, Zoltán Molnár, K. Nakajima, Laurent Nguyen, Stephen C. Noctor, Hirofumi Noguchi, R. Jeroen Pasterkamp, Samuel J. Pleasure, F. Polleux, Tatiana Popovitchenko, Janet E.A. Prince, Mladen-Roko Rasin, Orly Reiner, Masato Sawada, Kazunobu Sawamoto, K. Sekine, Carla Silva G., David J. Solecki, Constantino Sotelo, H. Tabata, Marc Tessier-Lavigne, Stephen R. Tymanskyj, Marieke G. Verhagen, Fan Wang, Franco Weth, Patricia T. Yam, Jing Yang, Bing Ye, Bernard Zalc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a429aec418543056aa632fc00d08e406
https://doi.org/10.1016/b978-0-12-814407-7.01002-6
https://doi.org/10.1016/b978-0-12-814407-7.01002-6
Autor:
Carmen Barba, Antonin Vinck, Anna Maria Buccoliero, Emmanuelle Buhler, Jean-Bernard Manent, Davide Mei, Valerio Conti, Xiaoxu Yang, Cristiana Pelorosso, Jennifer McEvoy-Venneri, Renzo Guerrini, Antoinette Gelot, Laurel L. Ball, Alfonso Represa, Valentina Cetica, Françoise Watrin, Joseph G. Gleeson
Publikováno v:
Hum Mol Genet
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2019, ddz194, Epub ahead of print. ⟨10.1093/hmg/ddz194⟩
Human Molecular Genetics, 2019, ddz194, Epub ahead of print. ⟨10.1093/hmg/ddz194⟩
Human molecular genetics, vol 28, iss 22
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2019, ddz194, Epub ahead of print. ⟨10.1093/hmg/ddz194⟩
Human Molecular Genetics, 2019, ddz194, Epub ahead of print. ⟨10.1093/hmg/ddz194⟩
Human molecular genetics, vol 28, iss 22
Single germline or somatic activating mutations of mammalian target of rapamycin (mTOR) pathway genes are emerging as a major cause of type II focal cortical dysplasia (FCD), hemimegalencephaly (HME) and tuberous sclerosis complex (TSC). A double-hit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b22f70d9b1ddd21d2835d5990605071
https://pubmed.ncbi.nlm.nih.gov/31411685
https://pubmed.ncbi.nlm.nih.gov/31411685
Autor:
Hiroshi Kawasaki, Fanny Sandrine Martineau, Fabienne Schaller, Jean-Bernard Manent, Emmanuelle Buhler, Françoise Watrin, Alfonso Represa, Vanessa Plantier, Surajit Sahu, Lauriane Fournier, Geneviève Chazal
Publikováno v:
Cerebral Cortex (New York, NY)
The neocortex is a six-layered laminated structure with a precise anatomical and functional organization ensuring proper function. Laminar positioning of cortical neurons, as determined by termination of neuronal migration, is a key determinant of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ef4a2457b06aa53bd499fa2a7ac2204
https://doi.org/10.1101/229948
https://doi.org/10.1101/229948
Publikováno v:
CNS Neuroscience & Therapeutics. 21:112-122
The objective of this article is to review the pathophysiological bases of gray matter heterotopia and to appreciate their involvement in brain cortical development and functional consequences, namely epilepsy. The development of the cerebral cortex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe388fb55b9ff906e59c2e4ccb6c064f
https://doi.org/10.1111/cns.12322
https://doi.org/10.1111/cns.12322
Autor:
Yoann Chauvin, Françoise Watrin, Marion Jalabert, Ludovic F. Petit, Emmanuelle Buhler, Arnaud Malvache, Jean-Bernard Manent, Angélique Peret, Alfonso Represa
Publikováno v:
Annals of Neurology. 76:428-442
OBJECTIVE: Subcortical band heterotopia (SBH) is a cortical malformation formed when neocortical neurons prematurely stop their migration in the white matter, forming a heterotopic band below the normotopic cortex, and is generally associated with in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de2a227f0793b33ce6a4d81c14f26822
https://doi.org/10.1002/ana.24237
https://doi.org/10.1002/ana.24237