Search Results - "Gelot, Antoinette Bernabe"

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A by Carabalona, Aurelie, Beguin, Shirley, Pallesi-Pocachard, Emilie, Buhler, Emmanuelle, Pellegrino, Christophe, Arnaud, Karen, Hubert, Philippe, Oualha, Mehdi, Siffroi, Jean Pierre, Khantane, Sabrina, Coupry, Isabelle, Goizet, Cyril, Gelot, Antoinette Bernabe, Represa, Alfonso, Cardoso, Carlos

“…Periventricular nodular heterotopia (PH) is a human brain malformation caused by defective neuronal migration that results in ectopic neuronal nodules lining…”
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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course by Biancalana, Valérie, Rendu, John, Chaussenot, Annabelle, Mecili, Helen, Bieth, Eric, Fradin, Mélanie, Mercier, Sandra, Michaud, Maud, Nougues, Marie-Christine, Pasquier, Laurent, Sacconi, Sabrina, Romero, Norma B, Marcorelles, Pascale, Authier, François Jérôme, Gelot Bernabe, Antoinette, Uro-Coste, Emmanuelle, Cances, Claude, Isidor, Bertrand, Magot, Armelle, Minot-Myhie, Marie-Christine, Péréon, Yann, Perrier-Boeswillwald, Julie, Bretaudeau, Gilles, Dondaine, Nicolas, Bouzenard, Alison, Pizzimenti, Mégane, Eymard, Bruno, Ferreiro, Ana, Laporte, Jocelyn, Fauré, Julien, Böhm, Johann

“…The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca channel in skeletal muscle and acts as a connecting link between electrical stimulation and…”
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Polymicrogyria with Dysmorphic Neurons in a Patient with SNCA2 Mutation by Gelot, Antoinette-Bernabe, Courtin, Thomas, Sileo, Chiara, Keren, Boris, Soreze-Smagghue, Yohan, Whalen, Sandra, Represa, Alfonso

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Polymicrogyria with Dysmorphic Neurons in a Patient with SCN2A Mutation by Gelot, Antoinette-Bernabe, Courtin, Thomas, Sileo, Chiara, Keren, Boris, Soreze-Smagghue, Yohan, Whalen, Sandra, Represa, Alfonso

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Progression of Fetal Brain Lesions in Tuberous Sclerosis Complex by Gelot, Antoinette Bernabe, Represa, Alfonso

“…Tuberous sclerosis (TSC) is a multisystem autosomal dominant genetic disorder due to loss of function of TSC1/TSC2 resulting in increased mTOR (mammalian…”
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Neurodevelopmental problems of unaccompanied refugee and migrant children: a new challenge for pediatric neurologists by Fazzi, Elisa, Korff, Christian, Bernabe Gelot, Antoinette, Leroy, Patricia, Rivier, Francois, San Antonio-Arce, Victoria, Veggiotti, Pierangelo

“…This article is commented on by Ventevogel and Melville on pages 1247–1248 of this issue…”
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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells by Cavallin, Mara, Rujano, Maria A, Bednarek, Nathalie, Medina-Cano, Daniel, Bernabe Gelot, Antoinette, Drunat, Severine, Maillard, Camille, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Beneteau, Claire, Besnard, Thomas, Cogné, Benjamin, Eveillard, Marion, Kuster, Alice, Poirier, Karine, Verloes, Alain, Martinovic, Jelena, Bidat, Laurent, Rio, Marlene, Lyonnet, Stanislas, Reilly, M Louise, Boddaert, Nathalie, Jenneson-Liver, Melanie, Motte, Jacques, Doco-Fenzy, Martine, Chelly, Jamel, Attie-Bitach, Tania, Simons, Matias, Cantagrel, Vincent, Passemard, Sandrine, Baffet, Alexandre, Thomas, Sophie, Bahi-Buisson, Nadia

“…Microlissencephaly is a rare brain malformation characterized by congenital microcephaly and lissencephaly. Microlissencephaly is suspected to result from…”
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MFN2, a new gene responsible for mitochondrial DNA depletion by Renaldo, Florence, Amati-Bonneau, Patrizia, Slama, Abdelhamid, Romana, Claudia, Forin, Veronique, Doummar, Diane, Barnerias, Christine, Bursztyn, Joseph, Mayer, Michèle, Khouri, Nejib, Billette de Villemeur, Thierry, Burglen, Lydie, Reynier, Pascal, Bernabe Gelot, Antoinette, Rodriguez, Diana

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In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses by Alby, Caroline, Boutaud, Lucile, Bonnière, Maryse, Collardeau‐Frachon, Sophie, Guibaud, Laurent, Lopez, Estelle, Bruel, Ange‐Line, Aral, Bernard, Sonigo, Pascale, Roth, Philippe, Vibert‐Guigue, Claude, Castaigne, Vanina, Carbonne, Bruno, Joyé, Nicole, Faivre, Laurence, Cordier, Marie‐Pierre, Bernabe Gelot, Antoinette, Clementi, Maurizio, Mammi, Isabella, Vekemans, Michel, Razavi, Féréchté, Gonzales, Marie, Thauvin‐Robinet, Christel, Attié‐Bitach, Tania

“…Background OFD1 syndrome is a rare ciliopathy inherited on a dominant X‐linked mode, typically lethal in males in the first or second trimester of pregnancy…”
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In Vivo Corneal Confocal Microscopy in Mucolipidosis Type IV by Martin, Gilles C, Bernabe-Gelot, Antoinette, Gabison, Eric

“…in Mucolipidosis Type IV A 7-year-old girl referred for a progressive bilateral visual impairment was found with a diffuse epithelial corneal infiltration…”
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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction by Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennifer L, Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E, Gordts, Philip L S M, Esko, Jeffrey D, Buschman, Matthew D, Field, Seth J, Napolitano, Gennaro, Abdel-Salam, Ghada M, Ozgul, R Koksal, Sagıroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G, Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A, Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B, de Lonlay, Pascale, Gleeson, Joseph G

“…Joseph Gleeson and colleagues report that biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy marked by lysosome-autophagosome…”
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The mortuary: a place of life by Gelot, Antoinette Bernabe

“…The mortuary is a place where past, present and future converge. It is a place where families can prepare and find peace. Every day, mortuary staff offer…”
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New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes by Bauché, Stéphanie, Sureau, Alain, Sternberg, Damien, Rendu, John, Buon, Céline, Messéant, Julien, Boëx, Myriam, Furling, Denis, Fauré, Julien, Latypova, Xénia, Gelot, Antoinette Bernabe, Mayer, Michèle, Mary, Pierre, Whalen, Sandra, Fournier, Emmanuel, Cloix, Isabelle, Remerand, Ganaelle, Laffargue, Fanny, Nougues, Marie-Christine, Fontaine, Bertrand, Eymard, Bruno, Isapof, Arnaud, Strochlic, Laure

“…To report the identification of 2 new homozygous recessive mutations in the synaptotagmin 2 ( ) gene as the genetic cause of severe and early presynaptic forms…”
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