Výsledky vyhledávání - Nava, Caroline

Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations Autor Alame, Saada, El-Houwayek, Eliane, Nava, Caroline, Sabbagh, Sandra, Fawaz, Ali, Gillart, Anne-Celine, Hasbini, Dana, Depienne, Christel, Mégarbané, André

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

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

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Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene Autor Adamsen, Dea, Ramaekers, Vincent, Ho, Horace TB, Britschgi, Corinne, Rüfenacht, Véronique, Meili, David, Bobrowski, Elise, Philippe, Paule, Nava, Caroline, Van Maldergem, Lionel, Bruggmann, Rémy, Walitza, Susanne, Wang, Joanne, Grünblatt, Edna, Thöny, Beat

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Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome Autor Darville, Hélène, Poulet, Aurélie, Rodet-Amsellem, Frédérique, Chatrousse, Laure, Pernelle, Julie, Boissart, Claire, Héron, Delphine, Nava, Caroline, Perrier, Anselme, Jarrige, Margot, Cogé, Francis, Millan, Mark J., Bourgeron, Thomas, Peschanski, Marc, Delorme, Richard, Benchoua, Alexandra

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Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood Autor Edvardson, Simon, Nicolae, Claudia M., Agrawal, Pankaj B., Mignot, Cyril, Payne, Katelyn, Prasad, Asuri Narayan, Prasad, Chitra, Sadler, Laurie, Nava, Caroline, Mullen, Thomas E., Begtrup, Amber, Baskin, Berivan, Powis, Zöe, Shaag, Avraham, Keren, Boris, Moldovan, George-Lucian, Elpeleg, Orly

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Cardio‐facio‐cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome Autor Nava, Caroline, Hanna, Nadine, Michot, Caroline, Pereira, Sabrina, Pouvreau, Nathalie, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Arveiler, Benoit, Lacombe, Didier, Pasmant, Eric, Parfait, Béatrice, Baumann, Clarisse, Héron, Delphine, Sigaudy, Sabine, Toutain, Annick, Rio, Marlène, Goldenberg, Alice, Leheup, Bruno, Verloes, Alain, Cavé, Hélène

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

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De Novo Mutations in YWHAG Cause Early-Onset Epilepsy Autor Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J.

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Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome Autor 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

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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures Autor Ito, Yoko, Carss, Keren J., Duarte, Sofia T., Hartley, Taila, Keren, Boris, Kurian, Manju A., Marey, Isabelle, Charles, Perinne, Mendonça, Carla, Nava, Caroline, Pfundt, Rolph, Sanchis-Juan, Alba, van Bokhoven, Hans, van Essen, Anthony, van Ravenswaaij-Arts, Conny, Boycott, Kym M., Kernohan, Kristin D., Dyack, Sarah, Raymond, F. Lucy

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Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability Autor Barcia, Giulia, Chemaly, Nicole, Kuchenbuch, Mathieu, Eisermann, Monika, Gobin-Limballe, Stéphanie, Ciorna, Viorica, Macaya, Alfons, Lambert, Laetitia, Dubois, Fanny, Doummar, Diane, Billette de Villemeur, Thierry, Villeneuve, Nathalie, Barthez, Marie-Anne, Nava, Caroline, Boddaert, Nathalie, Kaminska, Anna, Bahi-Buisson, Nadia, Milh, Mathieu, Auvin, Stéphane, Bonnefont, Jean-Paul, Nabbout, Rima

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Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations Autor Cameron, Jillian M., Maljevic, Snezana, Nair, Umesh, Aung, Ye Htet, Cogné, Benjamin, Bézieau, Stéphane, Blair, Edward, Isidor, Bertrand, Zweier, Christiane, Reis, André, Koenig, Mary Kay, Maarup, Timothy, Sarco, Dean, Afenjar, Alexandra, Huq, A. H. M. Mahbubul, Kukolich, Mary, Billette de Villemeur, Thierry, Nava, Caroline, Héron, Bénédicte, Petrou, Steven, Berkovic, Samuel F.

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Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder Autor 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.

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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies Autor Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B., Wheeler, Patricia G., Haynes, Devon, Juusola, Jane, Billette de Villemeur, Thierry, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias

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Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies Autor Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B., Wheeler, Patricia G., Haynes, Devon, Juusola, Jane, de Villemeur, Thierry Billette, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias

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Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction Autor Wang, Julia, Rousseau, Justine, Kim, Emily, Ehresmann, Sophie, Cheng, Yi-Ting, Duraine, Lita, Zuo, Zhongyuan, Park, Ye-Jin, Li-Kroeger, David, Bi, Weimin, Wong, Lee-Jun, Rosenfeld, Jill, Gleeson, Joseph, Faqeih, Eissa, Alkuraya, Fowzan S., Wierenga, Klaas J., Chen, Jiani, Afenjar, Alexandra, Nava, Caroline, Doummar, Diane, Keren, Boris, Juusola, Jane, Grompe, Markus, Bellen, Hugo J., Campeau, Philippe M.

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DCC mutation update: congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome Autor Marsh, Ashley PL, 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, de Villemeur, Thierry Billette, Walsh, Christopher A, Yu, Timothy W, Heron, Delphine, Sherr, Elliott H, Richards, Linda J, Depienne, Christel, Leventer, Richard J, Lockhart, Paul J

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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly Autor Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.

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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity Autor 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.

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