Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments
Leblond, Claire S, Nava, Caroline, Polge, Anne, Gauthier, Julie, Huguet, Guillaume, Lumbroso, Serge, Giuliano, Fabienne, Stordeur, Coline, Depienne, Christel, Mouzat, Kevin, Pinto, Dalila, Howe, Jennifer, Lemière, Nathalie, Durand, Christelle M, Guibert, Jessica, Ey, Elodie, Toro, Roberto, Peyre, Hugo, Mathieu, Alexandre, Amsellem, Frédérique, Rastam, Maria, Gillberg, I Carina, Rappold, Gudrun A, Holt, Richard, Monaco, Anthony P, Maestrini, Elena, Galan, Pilar, Heron, Delphine, Jacquette, Aurélia, Afenjar, Alexandra, Rastetter, Agnès, Brice, Alexis, Devillard, Françoise, Assouline, Brigitte, Laffargue, Fanny, Lespinasse, James, Chiesa, Jean, Rivier, François, Bonneau, Dominique, Regnault, Beatrice, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Sanlaville, Damien, Schluth-Bolard, Caroline, Edery, Patrick, Perrin, Laurence, Tabet, Anne Claude, Schmeisser, Michael J, Boeckers, Tobias M, Coleman, Mary, Sato, Daisuke, Szatmari, Peter, Scherer, Stephen W, Rouleau, Guy A, Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Delorme, Richard, Bourgeron, Thomas
Published in PLoS genetics (01.09.2014)
Published in PLoS genetics (01.09.2014)
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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Asselin, Laure, Rivera Alvarez, José, Heide, Solveig, Bonnet, Camille S., Tilly, Peggy, Vitet, Hélène, Weber, Chantal, Bacino, Carlos A., Baranaño, Kristin, Chassevent, Anna, Dameron, Amy, Faivre, Laurence, Hanchard, Neil A., Mahida, Sonal, McWalter, Kirsty, Mignot, Cyril, Nava, Caroline, Rastetter, Agnès, Streff, Haley, Thauvin-Robinet, Christel, Weiss, Marjan M., Zapata, Gladys, Zwijnenburg, Petra J. G., Saudou, Frédéric, Depienne, Christel, Golzio, Christelle, Héron, Delphine, Godin, Juliette D.
Published in Nature communications (15.05.2020)
Published in Nature communications (15.05.2020)
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy
Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G F, Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H, Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stéphanie, Zara, Federico, Koeleman, Bobby P C, Haaf, Thomas, LeGuern, Eric, Depienne, Christel
Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Leitão, Elsa, Schröder, Christopher, Parenti, Ilaria, Dalle, Carine, Rastetter, Agnès, Kühnel, Theresa, Kuechler, Alma, Kaya, Sabine, Gérard, Bénédicte, Schaefer, Elise, Nava, Caroline, Drouot, Nathalie, Engel, Camille, Piard, Juliette, Duban-Bedu, Bénédicte, Villard, Laurent, Stegmann, Alexander P. A., Vanhoutte, Els K., Verdonschot, Job A. J., Kaiser, Frank J., Tran Mau-Them, Frédéric, Scala, Marcello, Striano, Pasquale, Frints, Suzanna G. M., Argilli, Emanuela, Sherr, Elliott H., Elder, Fikret, Buratti, Julien, Keren, Boris, Mignot, Cyril, Héron, Delphine, Mandel, Jean-Louis, Gecz, Jozef, Kalscheuer, Vera M., Horsthemke, Bernhard, Piton, Amélie, Depienne, Christel
Published in Nature communications (02.11.2022)
Published in Nature communications (02.11.2022)
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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders
Mochel, Fanny, Rastetter, Agnès, Ceulemans, Berten, Platzer, Konrad, Yang, Sandra, Shinde, Deepali N, Helbig, Katherine L, Lopergolo, Diego, Mari, Francesca, Renieri, Alessandra, Benetti, Elisa, Canitano, Roberto, Waisfisz, Quinten, Plomp, Astrid S, Huisman, Sylvia A, Wilson, Golder N, Cathey, Sara S, Louie, Raymond J, Gaudio, Daniela Del, Waggoner, Darrel, Kacker, Shawn, Nugent, Kimberly M, Roeder, Elizabeth R, Bruel, Ange-Line, Thevenon, Julien, Ehmke, Nadja, Horn, Denise, Holtgrewe, Manuel, Kaiser, Frank J, Kamphausen, Susanne B, Abou Jamra, Rami, Weckhuysen, Sarah, Dalle, Carine, Depienne, Christel
Published in Brain (London, England : 1878) (01.12.2020)
Published in Brain (London, England : 1878) (01.12.2020)
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Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
Martin, Elodie, Schüle, Rebecca, Smets, Katrien, Rastetter, Agnès, Boukhris, Amir, Loureiro, José L., Gonzalez, Michael A., Mundwiller, Emeline, Deconinck, Tine, Wessner, Marc, Jornea, Ludmila, Oteyza, Andrés Caballero, Durr, Alexandra, Martin, Jean-Jacques, Schöls, Ludger, Mhiri, Chokri, Lamari, Foudil, Züchner, Stephan, De Jonghe, Peter, Kabashi, Edor, Brice, Alexis, Stevanin, Giovanni
Published in American journal of human genetics (07.02.2013)
Published in American journal of human genetics (07.02.2013)
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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
Mignot, Cyril, von Stülpnagel, Celina, Nava, Caroline, Ville, Dorothée, Sanlaville, Damien, Lesca, Gaetan, Rastetter, Agnès, Gachet, Benoit, Marie, Yannick, Korenke, G Christoph, Borggraefe, Ingo, Hoffmann-Zacharska, Dorota, Szczepanik, Elżbieta, Rudzka-Dybała, Mariola, Yiş, Uluç, Çağlayan, Hande, Isapof, Arnaud, Marey, Isabelle, Panagiotakaki, Eleni, Korff, Christian, Rossier, Eva, Riess, Angelika, Beck-Woedl, Stefanie, Rauch, Anita, Zweier, Christiane, Hoyer, Juliane, Reis, André, Mironov, Mikhail, Bobylova, Maria, Mukhin, Konstantin, Hernandez-Hernandez, Laura, Maher, Bridget, Sisodiya, Sanjay, Kuhn, Marius, Glaeser, Dieter, Weckhuysen, Sarah, Myers, Candace T, Mefford, Heather C, Hörtnagel, Konstanze, Biskup, Saskia, Lemke, Johannes R, Héron, Delphine, Kluger, Gerhard, Depienne, Christel, Craiu, Dana, De Jonghe, Peter, Helbig, Ingo, Guerrini, Renzo, Lehesjoki, Anna-Elina, Marini, Carla, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd, Pal, Deb, Selmer, Kaja, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Talvik, Tiina, von Spiczak, Sarah
Published in Journal of medical genetics (01.08.2016)
Published in Journal of medical genetics (01.08.2016)
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Further characterisation of ARX-related disorders in females due to inherited or de novo variants
Gras, Mathilde, Heide, Solveig, Keren, Boris, Valence, Stéphanie, Garel, Catherine, Whalen, Sandra, Jansen, Anna C, Keymolen, Kathelijn, Stouffs, Katrien, Jennesson, Mélanie, Poirsier, Céline, Lesca, Gaetan, Depienne, Christel, Nava, Caroline, Rastetter, Agnès, Curie, Aurore, Cuisset, Laurence, Des Portes, Vincent, Milh, Mathieu, Charles, Perrine, Mignot, Cyril, Héron, Delphine
Published in Journal of medical genetics (01.02.2024)
Published in Journal of medical genetics (01.02.2024)
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KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
KLEBEL, Stephan, LOSSOS, Alexander, RASTETTER, Agnes, MARTIN, Elodie, BOUTEILLER, Delphine, ORLANDO, Laurent, GYAPAY, Gabor, EL-HACHIMI, Khalid H, ZIMMERMAN, Batel, GAMLIEL, Moriya, MISK, Adel, LERER, Israela, AZZEDINE, Hamid, BRICE, Alexis, DURR, Alexandra, STEVANIN, Giovanni, MUNDWILLER, Emeline, SHEFFER, Ruth, GAUSSEN, Marion, MARELLI, Cecilia, NAWARA, Magdalena, CARPENTIER, Wassila, MEYER, Vincent
Published in European journal of human genetics : EJHG (01.06.2012)
Published in European journal of human genetics : EJHG (01.06.2012)
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Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
Heide, Solveig, Argilli, Emanuela, Valence, Stéphanie, Boutaud, Lucile, Roux, Nathalie, Mignot, Cyril, Nava, Caroline, Keren, Boris, Giraudat, Kim, Faudet, Anne, Gerasimenko, Anna, Garel, Catherine, Blondiaux, Eleonore, Rastetter, Agnès, Grevent, David, Le, Carolyn, Mackenzie, Lisa, Richards, Linda, Attié-Bitach, Tania, Depienne, Christel, Sherr, Elliott, Héron, Delphine
Published in Journal of medical genetics (01.03.2024)
Published in Journal of medical genetics (01.03.2024)
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Marsh, Ashley P L, Heron, Delphine, Edwards, Timothy J, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E M, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin B, Mandel, Jean-Louis, Amor, David J, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H, Leventer, Richard J, Richards, Linda J, Lockhart, Paul J, Depienne, Christel
Published in Nature genetics (01.04.2017)
Published in Nature genetics (01.04.2017)
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril
Published in Human genetics (01.04.2017)
Published in Human genetics (01.04.2017)
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Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3 Mutations
Debs, Rabab, Depienne, Christel, Rastetter, Agnès, Bellanger, Agnès, Degos, Bertrand, Galanaud, Damien, Keren, Boris, Lyon-Caen, Olivier, Brice, Alexis, Sedel, Frédéric
Published in Archives of neurology (Chicago) (01.01.2010)
Published in Archives of neurology (Chicago) (01.01.2010)
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Journal Article
Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish
Martin, Elodie, Yanicostas, Constantin, Rastetter, Agnès, Naini, Seyedeh Maryam Alavi, Maouedj, Alissia, Kabashi, Edor, Rivaud-Péchoux, Sophie, Brice, Alexis, Stevanin, Giovanni, Soussi-Yanicostas, Nadia
Published in Neurobiology of disease (01.12.2012)
Published in Neurobiology of disease (01.12.2012)
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DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome
Marsh, Ashley P. L., Edwards, Timothy J., Galea, Charles, Cooper, Helen M., Engle, Elizabeth C., Jamuar, Saumya S., Méneret, Aurélie, Moutard, Marie‐Laure, Nava, Caroline, Rastetter, Agnès, Robinson, Gail, Rouleau, Guy, Roze, Emmanuel, Spencer‐Smith, Megan, Trouillard, Oriane, Billette de Villemeur, Thierry, Walsh, Christopher A., Yu, Timothy W., Heron, Delphine, Sherr, Elliott H., Richards, Linda J., Depienne, Christel, Leventer, Richard J., Lockhart, Paul J.
Published in Human mutation (01.01.2018)
Published in Human mutation (01.01.2018)
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Journal Article
Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia
Murmu, Reena Prity, Martin, Elodie, Rastetter, Agnès, Esteves, Typhaine, Muriel, Marie-Paule, El Hachimi, Khalid Hamid, Denora, Paola Silvia, Dauphin, Aurélien, Fernandez, José Carlos, Duyckaerts, Charles, Brice, Alexis, Darios, Frédéric, Stevanin, Giovanni
Published in Molecular and cellular neuroscience (01.07.2011)
Published in Molecular and cellular neuroscience (01.07.2011)
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SCN1A-related epilepsy with recessive inheritance: Two further families
Moretti, Raffaella, Arnaud, Lionel, Bouteiller, Delphine, Trouillard, Oriane, Moreau, Patricia, Buratti, Julien, Rastetter, Agnès, Keren, Boris, Des Portes, Vincent, Toulouse, Joseph, Gourfinkel-An, Isabelle, Leguern, Eric, Depienne, Christel, Mignot, Cyril, Nava, Caroline
Published in European journal of paediatric neurology (01.07.2021)
Published in European journal of paediatric neurology (01.07.2021)
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Journal Article
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders
Nava, Caroline, Keren, Boris, Mignot, Cyril, Rastetter, Agnès, Chantot-Bastaraud, Sandra, Faudet, Anne, Fonteneau, Eric, Amiet, Claire, Laurent, Claudine, Jacquette, Aurélia, Whalen, Sandra, Afenjar, Alexandra, Périsse, Didier, Doummar, Diane, Dorison, Nathalie, Leboyer, Marion, Siffroi, Jean-Pierre, Cohen, David, Brice, Alexis, Héron, Delphine, Depienne, Christel
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability
Mignot, Cyril, Moutard, Marie-Laure, Rastetter, Agnès, Boutaud, Lucile, Heide, Solveig, Billette, Thierry, Doummar, Diane, Garel, Catherine, Afenjar, Alexandra, Jacquette, Aurélia, Lacombe, Didier, Verloes, Alain, Bole-Feysot, Christine, Nitschké, Patrick, Masson, Cécile, Faudet, Anne, Lesne, Fabien, Bienvenu, Thierry, Alby, Caroline, Attié-Bitach, Tania, Depienne, Christel, Nava, Caroline, Héron, Delphine
Published in Brain (London, England : 1878) (01.11.2016)
Published in Brain (London, England : 1878) (01.11.2016)
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Journal Article
Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations
Spencer‐Smith, Megan, Knight, Jacquelyn L, Lacaze, Emmanuelle, Depienne, Christel, Lockhart, Paul J, Richards, Linda J, Heron, Delphine, Leventer, Richard J, Robinson, Gail A, Ceslis, Amelia, Gibson, Emily, Giraudat, Kim, McIlroy, Alissandra, Paul, Lynn K, Siffredi, Vanessa, Bahlo, Melanie, Barker, Megan, Blondiaux, Eleonore, Edwards, Timothy J, Garel, Catherine, Heide, Solveig, Keren, Boris, Mandelstam, Simone A, Marsh, Ashley PL, McGillivray, George, Mignot, Cyril, Moutard, Marie‐Laure, Nava, Caroline, Pope, Kate, Rastetter, Agnès, Stephenson, Sarah EM, Valence, Stéphanie, de Villemeur, Thierry Billette, Wood, Amanda, Anderson, Vicki, Sherr, Elliott H
Published in Developmental medicine and child neurology (01.06.2020)
Published in Developmental medicine and child neurology (01.06.2020)
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