30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

od Depienne, Christel, Mandel, Jean-Louis
izdano v Am J Hum Genet (2021)

GABA(A) Receptor γ2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition

od Eugène, Emmanuel, Depienne, Christel, Baulac, Stéphanie, Baulac, Michel, Fritschy, Jean Marc, Le Guern, Eric, Miles, Richard, Poncer, Jean Christophe
izdano v J Neurosci (2007)

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

od Trouillard, Oriane, Koht, Jeanette, Gerstner, Thorsten, Moland, Siri, Depienne, Christel, Dusart, Isabelle, Méneret, Aurélie, Ruiz, Marta, Dubacq, Caroline, Roze, Emmanuel
izdano v Tremor Other Hyperkinet Mov (N Y) (2016)

Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations

od Alame, Saada, El-Houwayek, Eliane, Nava, Caroline, Sabbagh, Sandra, Fawaz, Ali, Gillart, Anne-Celine, Hasbini, Dana, Depienne, Christel, Mégarbané, André
izdano v Case Rep Med (2019)

Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation

od Atsem, Stefanie, Reichenbach, Juliane, Potabattula, Ramya, Dittrich, Marcus, Nava, Caroline, Depienne, Christel, Böhm, Lena, Rost, Simone, Hahn, Thomas, Schorsch, Martin, Haaf, Thomas, El Hajj, Nady
izdano v Hum Mol Genet (2016)

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

od Depienne, Christel, Fedirko, Estelle, Forlani, Sylvie, Cazeneuve, Cécile, Ribaï, Pascale, Feki, Imed, Tallaksen, Chantal, Nguyen, Karine, Stankoff, Bruno, Ruberg, Merle, Stevanin, Giovanni, Durr, Alexandra, Brice, Alexis
Izdano 2007

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

od Couarch, Philippe, Vernia, Santiago, Gourfinkel-An, Isabelle, Lesca, Gaëtan, Gataullina, Svetlana, Fedirko, Estelle, Trouillard, Oriane, Depienne, Christel, Dulac, Olivier, Steschenko, Dominique, Leguern, Eric, Sanz, Pascual, Baulac, Stéphanie
Izdano 2011

Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders

od Huguet, Guillaume, Nava, Caroline, Lemière, Nathalie, Patin, Etienne, Laval, Guillaume, Ey, Elodie, Brice, Alexis, Leboyer, Marion, Szepetowski, Pierre, Gillberg, Christopher, Depienne, Christel, Delorme, Richard, Bourgeron, Thomas
Izdano 2014

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

od Kolc, Kristy L., Sadleir, Lynette G., Depienne, Christel, Marini, Carla, Scheffer, Ingrid E., Møller, Rikke S., Trivisano, Marina, Specchio, Nicola, Pham, Duyen, Kumar, Raman, Roberts, Rachel, Gecz, Jozef
izdano v Transl Psychiatry (2020)

Evidence of mosaicism in SPAST variant carriers in four French families

od Angelini, Chloé, Goizet, Cyril, Said, Samia Ait, Camu, William, Depienne, Christel, Heron, Bénédicte, Kol, Bophara, Guillaud-Bataille, Marine, Pennamen, Perrine, Rooryck, Caroline, Scherer-Gagou, Clarisse, Tissier, Laurène, Stevanin, Giovanni, Leguern, Eric, Banneau, Guillaume
izdano v Eur J Hum Genet (2021)

Annonacin, a Natural Mitochondrial Complex I Inhibitor, Causes Tau Pathology in Cultured Neurons

od Escobar-Khondiker, Myriam, Höllerhage, Matthias, Muriel, Marie-Paule, Champy, Pierre, Bach, Antoine, Depienne, Christel, Respondek, Gesine, Yamada, Elizabeth S., Lannuzel, Annie, Yagi, Takao, Hirsch, Etienne C., Oertel, Wolfgang H., Jacob, Ralf, Michel, Patrick P., Ruberg, Merle, Höglinger, Günter U.
izdano v J Neurosci (2007)

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

od Nixon, Kevin C.J., Rousseau, Justine, Stone, Max H., Sarikahya, Mohammed, Ehresmann, Sophie, Mizuno, Seiji, Matsumoto, Naomichi, Miyake, Noriko, Baralle, Diana, McKee, Shane, Izumi, Kosuke, Ritter, Alyssa L., Heide, Solveig, Héron, Delphine, Depienne, Christel, Titheradge, Hannah, Kramer, Jamie M., Campeau, Philippe M.
izdano v Am J Hum Genet (2019)

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

od 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
Izdano 2014

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia

od Newton, Timothy, Allison, Rachel, Edgar, James R, Lumb, Jennifer H, Rodger, Catherine E, Manna, Paul T, Rizo, Tania, Kohl, Zacharias, Nygren, Anders O H, Arning, Larissa, Schüle, Rebecca, Depienne, Christel, Goldberg, Lisa, Frahm, Christiane, Stevanin, Giovanni, Durr, Alexandra, Schöls, Ludger, Winner, Beate, Beetz, Christian, Reid, Evan
izdano v Brain (2018)

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

od Depienne, Christel, Ciura, Sorana, Trouillard, Oriane, Bouteiller, Delphine, Leitão, Elsa, Nava, Caroline, Keren, Boris, Marie, Yannick, Guegan, Justine, Forlani, Sylvie, Brice, Alexis, Anheim, Mathieu, Agid, Yves, Krack, Paul, Damier, Philippe, Viallet, François, Houeto, Jean-Luc, Durif, Franck, Vidailhet, Marie, Worbe, Yulia, Roze, Emmanuel, Kabashi, Edor, Hartmann, Andreas
izdano v Tremor Other Hyperkinet Mov (N Y) (2019)

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

od Hardies, Katia, Cai, Yiying, Jardel, Claude, Jansen, Anna C., Cao, Mian, May, Patrick, Djémié, Tania, Hachon Le Camus, Caroline, Keymolen, Kathelijn, Deconinck, Tine, Bhambhani, Vikas, Long, Catherine, Sajan, Samin A., Helbig, Katherine L., Suls, Arvid, Balling, Rudi, Helbig, Ingo, De Jonghe, Peter, Depienne, Christel, De Camilli, Pietro, Weckhuysen, Sarah
izdano v Brain (2016)

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

od Nava, Caroline, Rupp, Johanna, Boissel, Jean-Paul, Mignot, Cyril, Rastetter, Agnès, Amiet, Claire, Jacquette, Aurélia, Dupuits, Céline, Bouteiller, Delphine, Keren, Boris, Ruberg, Merle, Faudet, Anne, Doummar, Diane, Philippe, Anne, Périsse, Didier, Laurent, Claudine, Lebrun, Nicolas, Guillemot, Vincent, Chelly, Jamel, Cohen, David, Héron, Delphine, Brice, Alexis, Closs, Ellen I., Depienne, Christel
izdano v Amino Acids (2015)

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

od Depienne, Christel, Bouteiller, Delphine, Keren, Boris, Cheuret, Emmanuel, Poirier, Karine, Trouillard, Oriane, Benyahia, Baya, Quelin, Chloé, Carpentier, Wassila, Julia, Sophie, Afenjar, Alexandra, Gautier, Agnès, Rivier, François, Meyer, Sophie, Berquin, Patrick, Hélias, Marie, Py, Isabelle, Rivera, Serge, Bahi-Buisson, Nadia, Gourfinkel-An, Isabelle, Cazeneuve, Cécile, Ruberg, Merle, Brice, Alexis, Nabbout, Rima, LeGuern, Eric
Izdano 2009

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

od Depienne, Christel, Bouteiller, Delphine, Keren, Boris, Cheuret, Emmanuel, Poirier, Karine, Trouillard, Oriane, Benyahia, Baya, Quelin, Chloé, Carpentier, Wassila, Julia, Sophie, Afenjar, Alexandra, Gautier, Agnès, Rivier, François, Meyer, Sophie, Berquin, Patrick, Hélias, Marie, Py, Isabelle, Rivera, Serge, Bahi-Buisson, Nadia, Gourfinkel-An, Isabelle, Cazeneuve, Cécile, Ruberg, Merle, Brice, Alexis, Nabbout, Rima, LeGuern, Eric
Izdano 2009

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder

od Hiatt, Susan M., Thompson, Michelle L., Prokop, Jeremy W., Lawlor, James M.J., Gray, David E., Bebin, E. Martina, Rinne, Tuula, Kempers, Marlies, Pfundt, Rolph, van Bon, Bregje W., Mignot, Cyril, Nava, Caroline, Depienne, Christel, Kalsner, Louisa, Rauch, Anita, Joset, Pascal, Bachmann-Gagescu, Ruxandra, Wentzensen, Ingrid M., McWalter, Kirsty, Cooper, Gregory M.
izdano v Am J Hum Genet (2019)