Search Results - "Ribierre, Théo"

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study by Baldassari, Sara, Ribierre, Théo, Marsan, Elise, Adle-Biassette, Homa, Ferrand-Sorbets, Sarah, Bulteau, Christine, Dorison, Nathalie, Fohlen, Martine, Polivka, Marc, Weckhuysen, Sarah, Dorfmüller, Georg, Chipaux, Mathilde, Baulac, Stéphanie

“…Genetic malformations of cortical development (MCDs), such as mild MCDs (mMCD), focal cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes…”
Get full text

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy by Ribierre, Théo, Deleuze, Charlotte, Bacq, Alexandre, Baldassari, Sara, Marsan, Elise, Chipaux, Mathilde, Muraca, Giuseppe, Roussel, Delphine, Navarro, Vincent, Leguern, Eric, Miles, Richard, Baulac, Stéphanie

“…DEP domain-containing 5 protein (DEPDC5) is a repressor of the recently recognized amino acid-sensing branch of the mTORC1 pathway. So far, its function in the…”
Get full text

Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy by Ribierre, Théo, Bacq, Alexandre, Donneger, Florian, Doladilhe, Marion, Maletic, Marina, Roussel, Delphine, Le Roux, Isabelle, Chassoux, Francine, Devaux, Bertrand, Adle-Biassette, Homa, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Chipaux, Mathilde, Baldassari, Sara, Poncer, Jean-Christophe, Baulac, Stéphanie

“…Cortical malformations such as focal cortical dysplasia type II (FCDII) are associated with pediatric drug-resistant epilepsy that necessitates neurosurgery…”
Get full text

Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy by Bacq, Alexandre, Roussel, Delphine, Bonduelle, Thomas, Zagaglia, Sara, Maletic, Marina, Ribierre, Théo, Adle-Biassette, Homa, Marchal, Cécile, Jennesson, Mélanie, An, Isabelle, Picard, Fabienne, Navarro, Vincent, Sisodiya, Sanjay M, Baulac, Stéphanie

“…Germline loss-of-function mutations in DEPDC5, and in its binding partners (NPRL2/3) of the mammalian target of rapamycin (mTOR) repressor GATOR1 complex,…”
Get full text

Juvenile myoclonic epilepsy phenotype in a family with Unverricht‐Lundborg disease by Berrechid, Amina Gargouri, Bendjebara, Mouna, Bouteiller, Delphine, Nasri, Amina, Peuvion, Jean‐Noël, Marie, Yannick, Baulac, Stéphanie, Mrabet, Saloua, Ribierre, Théo, Cazeneuve, Cecile, Imenkacem, Leguern, Eric, Gouider, Riadh

“…ABSTRACT Aims. Unverricht‐Lundborg disease (ULD), an autosomal recessive progressive myoclonus epilepsy, is due to an expansion, or less commonly a mutation,…”
Get full text

mTOR pathway in familial focal epilepsies by Ribierre, Théo, Baulac, Stéphanie

“…An increasingly recognized role of genes encoding components of the mammalian Target Of Rapamycin (mTOR) signal transduction pathway has recently emerged among…”
Get full text

A second-hit somatic mutation drives neurodevelopmental epilepsy by Ribierre, Théo, Baulac, Stéphanie

Get more information

STIM1 controls T cell-mediated immune regulation and inflammation in chronic infection by Desvignes, Ludovic, Weidinger, Carl, Shaw, Patrick, Vaeth, Martin, Ribierre, Theo, Liu, Menghan, Fergus, Tawania, Kozhaya, Lina, McVoy, Lauren, Unutmaz, Derya, Ernst, Joel D, Feske, Stefan

“…Chronic infections induce a complex immune response that controls pathogen replication, but also causes pathology due to sustained inflammation. Ca2+ influx…”
Get full text

Second-hit mosaic mutation in mTORCI repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy by Ribierre, Theo, Deleuze, Charlotte, Bacq, Alexandre, Baldassari, Sara, Marsan, Elise, Chipaux, Mathilde, Muraca, Giuseppe, Roussel, Delphine, Navarro, Vincent, Leguern, Eric, Miles, Richard, Baulac, Stephanie

“…DEP domain-containing 5 protein (DEPDC5) is a repressor of the recently recognized amino acid-sensing branch of the mTORC1 pathway. So far, its function in the…”
Get full text

STIM1 controls T cell-mediated immune regulation and inflammation in chronic infection by Desvignes, Ludovic, Weidinger, Carl, Shaw, Patrick, Vaeth, Martin, Ribierre, Theo, Liu, Menghan, Fergus, Tawania, Kozhaya, Lina, McVoy, Lauren, Unutmaz, Derya, Ernst, Joel D, Feske, Stefan

“…Chronic infections induce a complex immune response that controls pathogen replication, but also causes pathology due to sustained inflammation. [Ca.sup.2+]…”
Get full text