Further refinement of COL4A1 and COL4A2 related cortical malformations
Cavallin, Mara, Mine, Manuele, Philbert, Marion, Boddaert, Nathalie, Lepage, Jean Marie, Coste, Thibault, Lopez-Gonzalez, Vanessa, Sanchez-Soler, Maria Jose, Ballesta-Martínez, Maria Juliana, Remerand, Ganaëlle, Pasquier, Laurent, Guët, Agnès, Chelly, Jamel, Lascelles, Karine, Prieto-Morin, Carol, Kossorotoff, Manoelle, Tournier Lasserve, Elisabeth, Bahi-Buisson, Nadia
Published in European journal of medical genetics (01.12.2018)
Published in European journal of medical genetics (01.12.2018)
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Journal Article
FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9
Piarroux, Julie, Riant, Florence, Humbertclaude, Véronique, Remerand, Ganaelle, Hadjadj, Jessica, Rejou, Franck, Coubes, Christine, Pinson, Lucile, Meyer, Pierre, Roubertie, Agathe
Published in Annals of clinical and translational neurology (01.04.2020)
Published in Annals of clinical and translational neurology (01.04.2020)
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Journal Article
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations
Remerand, Ganaelle, Boespflug‐Tanguy, Odile, Tonduti, Davide, Touraine, Renaud, Rodriguez, Diana, Curie, Aurore, Perreton, Nathalie, Des Portes, Vincent, Sarret, Catherine, Afenjar, Alexandra, Burglen, Lydie, Castellotti, Barbara, Cuntz, Danielle, Desguerre, Isabelle, Doummar, Diane, Estienne, Margherita, Freri, Elena, Heron, Delphine, Moutard, Marie‐Laure, Novara, Francesca, Orcesi, Simona, Saletti, Veronica, Zibordi, Federica
Published in Developmental medicine and child neurology (01.12.2019)
Published in Developmental medicine and child neurology (01.12.2019)
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Journal Article
Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation)
Minet, Perrine, Sarret, Catherine, Miret, Ania, Mention, Karine, Benoist, Jean François, Remerand, Ganaelle
Published in Acta neurologica Belgica (01.12.2021)
Published in Acta neurologica Belgica (01.12.2021)
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Journal Article
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms
Ragnarsson, Lotten, Zhang, Zihan, Das, Sooraj S., Tran, Poanna, Andersson, Åsa, Portes, Vincent, Desmettre Altuzarra, Cecilia, Remerand, Ganaelle, Labalme, Audrey, Chatron, Nicolas, Sanlaville, Damien, Lesca, Gaetan, Anggono, Victor, Vetter, Irina, Keramidas, Angelo
Published in Epilepsia (Copenhagen) (01.12.2023)
Published in Epilepsia (Copenhagen) (01.12.2023)
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Journal Article
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome
Masnada, Silvia, Sarret, Catherine, Antonello, Clara Eleonora, Fadilah, Ala, Krude, Heiko, Mura, Eleonora, Mordekar, Santosh, Nicita, Francesco, Olivotto, Sara, Orcesi, Simona, Porta, Francesco, Remerand, Ganaelle, Siri, Barbara, Wilpert, Nina-Maria, Amir-Yazdani, Pouneh, Bertini, Enrico, Schuelke, Markus, Bernard, Geneviève, Boespflug-Tanguy, Odile, Tonduti, Davide
Published in Molecular genetics and metabolism (01.01.2022)
Published in Molecular genetics and metabolism (01.01.2022)
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Journal Article
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Bauché, Stéphanie, O’Regan, Seana, Azuma, Yoshiteru, Laffargue, Fanny, McMacken, Grace, Sternberg, Damien, Brochier, Guy, Buon, Céline, Bouzidi, Nassima, Topf, Ana, Lacène, Emmanuelle, Remerand, Ganaelle, Beaufrere, Anne-Marie, Pebrel-Richard, Céline, Thevenon, Julien, El Chehadeh-Djebbar, Salima, Faivre, Laurence, Duffourd, Yannis, Ricci, Federica, Mongini, Tiziana, Fiorillo, Chiara, Astrea, Guja, Burloiu, Carmen Magdalena, Butoianu, Niculina, Sandu, Carmen, Servais, Laurent, Bonne, Gisèle, Nelson, Isabelle, Desguerre, Isabelle, Nougues, Marie-Christine, Bœuf, Benoit, Romero, Norma, Laporte, Jocelyn, Boland, Anne, Lechner, Doris, Deleuze, Jean-François, Fontaine, Bertrand, Strochlic, Laure, Lochmuller, Hanns, Eymard, Bruno, Mayer, Michèle, Nicole, Sophie
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article
Web Resource
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype
Cherik, Florian, Lepage, Mathis, Remerand, Ganaelle, Francannet, Christine, Delabaere, Amélie, Salaun, Gaëlle, Pebrel-Richard, Céline, Gouas, Laetitia, Vago, Philippe, Tchirkov, Andrei, Goumy, Carole
Published in European journal of medical genetics (01.09.2021)
Published in European journal of medical genetics (01.09.2021)
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Journal Article
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations
Remerand, Ganaelle, Boespflug‐Tanguy, Odile, Tonduti, Davide, Touraine, Renaud, Rodriguez, Diana, Curie, Aurore, Perreton, Nathalie, Des Portes, Vincent, Sarret, Catherine
Published in Developmental medicine and child neurology (01.12.2019)
Published in Developmental medicine and child neurology (01.12.2019)
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Journal Article
Recanalization Treatments for Pediatric Acute Ischemic Stroke in France
Kossorotoff, Manoëlle, Kerleroux, Basile, Boulouis, Grégoire, Husson, Béatrice, Tran Dong, Kim, Eugene, François, Damaj, Lena, Ozanne, Augustin, Bellesme, Céline, Rolland, Anne, Bourcier, Romain, Triquenot-Bagan, Aude, Marnat, Gaultier, Neau, Jean-Philippe, Joriot, Sylvie, Perez, Alexandra, Guillen, Maud, Perivier, Maximilien, Audic, Frederique, Hak, Jean François, Denier, Christian, Naggara, Olivier, BEN HASSEN, WAGIH, KOSSOROTOFF, MANOËLLE, NAGGARA, OLIVIER, KERLEROUX, BASILE, DENIER, CHRISTIAN, OZANNE, AUGUSTIN, BELLESME, CÉLINE, HUSSON, BÉATRICE, HUGUES, CHABRIAT, PEGGY, REINER, LAMY, CATHERINE, CLARENÇON, FREDERIC, DELTOUR, SANDRINE, LEVASSEUR, MICHÈLE, LUN, FRANÇOIS, HOSSEINI, HASSAN, VILLAIN, ADRIEN, LAMY, CHANTAL, HERY, LOÏC, CHIVOT, CYRIL, GUEDEN, SOPHIE, BOUAMRA, BENJAMIN, BELLEVILLE GOFFENEY, JOANNA, BIONDI, ALESSANDRA, RENOU, PAULINE, THIBAUD, MARIE, MARNAT, GAULTIER, BACH, NATHALIE, FERRIER, ANNA, REMERAND, GANAELLE, CHABERT, EMMANUEL, BÉJOT, YANNICK, DETANTE, OLIVIER, LAMETERY, ELODIE, TAHON, FLORENCE, CORDONNIER, CHARLOTTE, SYLVIE, JORIOT, APOLLINE, KAZEMI, LAROCHE, CECILE, SALEME, SUZANA, DEREX, LAURENT, CARNEIRO, MARYLINE, EKER, OMER, AUDIC, FREDERIQUE, DORY LAUTREC, PHILIPPE, GIRARD, NADINE, ARQUIZAN, CAROLINE, MEYER, PIERRE, RICHARD, SEBASTIEN, BILBAULT, CLAIRE, DESAL, HUBERT, ROLLAND, ANNE, ROMAIN, BOURCIER, GONDON, EMMANUELLE, SEDAT, JACQUES, AUZOU, PASCAL, OZSANCAK, CANAN, CAMI, GUILLAUME, NEAU, JEAN PHILIPPE, RAYNAUD, NICOLAS, VELASCO, STÉPHANE, VANNIER, STEPHANE, DAMAJ, LÉNA, FERRÉ, JEAN CHRISOPHE, EUGENE, FRANCOIS, TRIQUENOT BAGAN, AUDE, PAPAGIANNAKI, CHRISANTHI, WOLFF, VALÉRIE, PEREZ, ALEXANDRA, BEAUJEUX, RÉMY, CHEURET, EMMANUEL, DARCOURT, JEAN, JANOT, KEVIN, PERIVIER, MAXIMILIEN, HERBRETEAUX, DENIS
Published in JAMA network open (15.09.2022)
Published in JAMA network open (15.09.2022)
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Journal Article
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes
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
Published in Neurology. Genetics (01.12.2020)
Published in Neurology. Genetics (01.12.2020)
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Journal Article
Syndrome microdélétionnel 10q26 : nouvelle région minimale critique et possible implication des gènes INSYN2 et NPS dans le phénotype cognitif
Goumy, Carole, Cherik, Florian, Lepage, Mathis, Remerand, Ganaelle, Francannet, Christine, Delabaere, Amélie, Salaun, Gaelle, Pebrel-Richard, Céline, Gouas, Laetitia, Eymard-Pierre, Eleonore, Vago, Philippe, Tchirkov, Andrei
Published in Morphologie (01.09.2021)
Published in Morphologie (01.09.2021)
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Journal Article
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations
Remerand, Ganaelle, Boespflug-Tanguy, Odile, Tonduti, Davide, Touraine, Renaud, Rodriguez, Diana, Curie, Aurore, Perreton, Nathalie, Des Portes, Vincent, Sarret, Catherine
Published in Developmental medicine and child neurology (01.12.2019)
Published in Developmental medicine and child neurology (01.12.2019)
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