Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy
Mary, Laura, Nourisson, Elsa, Feger, Claire, Laugel, Vincent, Chaigne, Denys, Keren, Boris, Afenjar, Alexandra, Billette, Thierry, Trost, Detlef, Cieuta‐Walti, Cécile, Gerard, Bénédicte, Piton, Amélie, Schaefer, Elise
Published in American journal of medical genetics. Part A (01.06.2021)
Published in American journal of medical genetics. Part A (01.06.2021)
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Molecular Rescue of Dyrk1A Overexpression Alterations in Mice with Fontup ® Dietary Supplement: Role of Green Tea Catechins
Gu, Yuchen, Moroy, Gautier, Paul, Jean-Louis, Rebillat, Anne-Sophie, Dierssen, Mara, de la Torre, Rafael, Cieuta-Walti, Cécile, Dairou, Julien, Janel, Nathalie
Published in International journal of molecular sciences (19.02.2020)
Published in International journal of molecular sciences (19.02.2020)
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Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease
Accogli, Andrea, Guerrero, Kether, D'Agostino, Maria Daniela, Tran, Luan, Cieuta-Walti, Cécile, Thiffault, Isabelle, Chénier, Sébastien, Schwartzentruber, Jeremy, Majewski, Jacek, Bernard, Geneviève
Published in Journal of child neurology (01.02.2019)
Published in Journal of child neurology (01.02.2019)
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Growth curves for French people with Down syndrome from birth to 20 years of age
Mircher, Clotilde, Briceño, Laura G., Toulas, Jeanne, Conte, Martine, Tanguy, Marie‐Laure, Cieuta‐Walti, Cécile, Rethore, Marie‐Odile, Ravel, Aimé
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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Journal Article
Acute Regression in Young People with Down Syndrome
Mircher, Clotilde, Cieuta-Walti, Cécile, Marey, Isabelle, Rebillat, Anne-Sophie, Cretu, Laura, Milenko, Eliane, Conte, Martine, Sturtz, Franck, Rethore, Marie-Odile, Ravel, Aimé
Published in Brain sciences (27.05.2017)
Published in Brain sciences (27.05.2017)
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Anthropometric charts and congenital anomalies in newborns with Down syndrome
Mircher, Clotilde, Toulas, Jeanne, Cieuta‐Walti, Cécile, Marey, Isabelle, Conte, Martine, González Briceño, Laura, Tanguy, Marie‐Laure, Rethore, Marie‐Odile, Ravel, Aime
Published in American journal of medical genetics. Part A (01.08.2017)
Published in American journal of medical genetics. Part A (01.08.2017)
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Humanized mouse model of Rasmussen's encephalitis supports the immune-mediated hypothesis
Kebir, Hania, Carmant, Lionel, Fontaine, François, Béland, Kathie, Bosoi, Ciprian M, Sanon, Nathalie T, Alvarez, Jorge I, Desgent, Sébastien, Pittet, Camille L, Hébert, David, Langlois, Marie-Josée, Rébillard, Rose-Marie, Nguyen, Dang K, Cieuta-Walti, Cécile, Holmes, Gregory L, Goodkin, Howard P, Mytinger, John R, Connolly, Mary B, Prat, Alexandre, Haddad, Elie
Published in The Journal of clinical investigation (01.05.2018)
Published in The Journal of clinical investigation (01.05.2018)
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Psychomotor development in infants and young children with Down syndrome—A prospective, repeated measure, post‐hoc analysis
Sacco, Silvia, Bouis, Charles, Gallard, Jennifer, Pichot, Aude, Blondiaux, Elodie, Marey, Isabelle, Dorison, Nathalie, Sturtz, Franck, Cieuta‐Walti, Cecile, Ravel, Aimé, Mircher, Clotilde
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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Epileptiform asymetries and treatment response in juvenile myoclonic epilepsy
Létourneau, Karine, Cieuta-Walti, Cécile, Deacon, Charles
Published in Canadian journal of neurological sciences (01.11.2010)
Published in Canadian journal of neurological sciences (01.11.2010)
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Safety and preliminary efficacy on cognitive performance and adaptive functionality of epigallocatechin gallate (EGCG) in children with Down syndrome. A randomized phase Ib clinical trial (PERSEUS study)
Cieuta-Walti, Cécile, Cuenca-Royo, Aida, Langohr, Klaus, Rakic, Claire, López-Vílchez, Ma Ángeles, Lirio, Julián, González-Lamuño Leguina, Domingo, González, Teresa Bermejo, García, Jordi García, Roure, Maria Rimblas, Aldea-Perona, Ana, Forcano, Laura, Gomis-Gonzalez, Maria, Cés, Sebastià Videla, Lacaille, Florence, Ravel, Aimé, Mircher, Clotilde, Walti, Hervé, Janel, Nathalie, Dairou, Julien, Lévy, Marilyne, Durand, Sophie, Dierssen, Mara, Sacco, Silvia, Fornell, Rafael de la Torre, Guerrico, Ion Álvarez, Goday, Albert, Llop, Cristina, Mateus, Julián, Matilla, Iris, Esther, Menoyo, Hernández-Ligero, Lorena, Pérez, Marta, Pizarro, Neus, Principe, Alessandro, Cortesi, Anna, Gomez, Alba, Paredes, Noelia, Gomez, Cristina, Graell, Montserrat, López, Pilar, Lozano, Rosario, Medrano, Constancio, Andrade-Navarro, Maria Teresa, Daza, Gema, Garcia, Sandra, Gayán, Ma Luisa, Guerra-Colorado, Cristina, Luna, Beatriz, Maya, Enriqueta, Millan, Delia, Reina, Macarena, Amigo, María Teresa, Fernández, José Luís, García-Martínez, María, Pérez-Poyato, María del Socorro, Pozueta, Ana, Tato, Emma, Viadero, María Teresa, Akkaya, Magnolia, Falquero, Ségolène, Gambarini, Alicia
Published in Genetics in medicine (01.10.2022)
Published in Genetics in medicine (01.10.2022)
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Growth curves for French people with Down syndrome from birth to 20years of age
Mircher, Clotilde, Briceño, Laura G, Toulas, Jeanne, Conte, Martine, Marie‐Laure Tanguy, Cécile Cieuta‐Walti, Marie‐Odile Rethore, Ravel, Aimé
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study
Fauroux, Brigitte, Sacco, Silvia, Couloigner, Vincent, Amaddeo, Alessandro, Ravel, Aimé, Prioux, Emmanuelle, Toulas, Jeanne, Cieuta-Walti, Cécile, Walti, Hervé, Luscan, Romain, Falquero, Ségolène, Clert, Manon, Caillaud, Marie-Anne, De Sanctis, Livio, Khirani, Sonia, Marey, Isabelle, Mircher, Clotilde
Published in The Lancet regional health. Europe (01.10.2024)
Published in The Lancet regional health. Europe (01.10.2024)
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Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional studyResearch in context
Brigitte Fauroux, Silvia Sacco, Vincent Couloigner, Alessandro Amaddeo, Aimé Ravel, Emmanuelle Prioux, Jeanne Toulas, Cécile Cieuta-Walti, Hervé Walti, Romain Luscan, Ségolène Falquero, Manon Clert, Marie-Anne Caillaud, Livio De Sanctis, Sonia Khirani, Isabelle Marey, Clotilde Mircher
Published in The Lancet regional health. Europe (01.10.2024)
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Published in The Lancet regional health. Europe (01.10.2024)
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Opportunities, barriers, and recommendations in down syndrome research
Hendrix, James A, Amon, Angelika, Abbeduto, Leonard, Agiovlasitis, Stamatis, Alsaied, Tarek, Anderson, Heather A, Bain, Lisa J, Baumer, Nicole, Bhattacharyya, Anita, Bogunovic, Dusan, Botteron, Kelly N, Capone, George, Chandan, Priya, Chase, Isabelle, Chicoine, Brian, Cieuta-Walti, Cécile, DeRuisseau, Lara R, Durand, Sophie, Esbensen, Anna, Fortea, Juan, Giménez, Sandra, Granholm, Ann-Charlotte, Hahn, Laura J, Head, Elizabeth, Hillerstrom, Hampus, Jacola, Lisa M, Janicki, Matthew P, Jasien, Joan M, Kamer, Angela R, Kent, Raymond D, Khor, Bernard, Lawrence, Jeanne B, Lemonnier, Catherine, Lewanda, Amy Feldman, Mobley, William, Moore, Paul E, Nelson, Linda Pollak, Oreskovic, Nicolas M, Osorio, Ricardo S, Patterson, David, Rasmussen, Sonja A, Reeves, Roger H, Roizen, Nancy, Santoro, Stephanie, Sherman, Stephanie L, Talib, Nasreen, Tapia, Ignacio E, Walsh, Kyle M, Warren, Steven F, White, A Nicole, Wong, Guang William, Yi, John S
Published in Translational science of rare diseases (01.01.2021)
Published in Translational science of rare diseases (01.01.2021)
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Acute regression in young people with Down Syndrome
Cieuta-Walti, Cécile, Mircher, Clotilde, Rebillat, Anne-Sophie, Marey, Isabelle, Cretu, Laura, Milenko, Eliane, Conte, Martine, Toulas, Jeanne, Walti, Hervé, Ravel, Aimé
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11
Kinirons, Peter, Verlaan, Dominique J., Dubé, Marie-Pierre, Poirier, Josée, Deacon, Charles, Lortie, Anne, Clément, Jean-François, Desbiens, Richard, Carmant, Lionel, Cieuta-Walti, Cecile, Shevell, Michael, Rouleau, Guy A., Cossette, Patrick
Published in American journal of medical genetics. Part A (01.03.2008)
Published in American journal of medical genetics. Part A (01.03.2008)
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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Whalen, Sandra, Shaw, Marie, Mignot, Cyril, Héron, Delphine, Bastaraud, Sandra Chantot, Walti, Cecile Cieuta, Liebelt, Jan, Elmslie, Frances, Yap, Patrick, Hurst, Jane, Forsythe, Elisabeth, Kirmse, Brian, Ozmore, Jillian, Spinelli, Alessandro Mauro, Calabrese, Olga, de Villemeur, Thierry Billette, Tabet, Anne Claude, Levy, Jonathan, Guet, Agnes, Kossorotoff, Manoëlle, Kamien, Benjamin, Morton, Jenny, McCabe, Anne, Brischoux-Boucher, Elise, Raas-Rothschild, Annick, Pini, Antonella, Carroll, Renée, Hartley, Jessica N, Frosk, Patrick, Slavotinek, Anne, Truxal, Kristen, Jennifer, Carroll, Dheedene, Annelies, Cui, Hong, Kumar, Vishal, Thomson, Glen, Riccardi, Florence, Gecz, Jozef, Villard, Laurent
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation
Haertle, Larissa, Müller, Tobias, Lardenoije, Roy, Maierhofer, Anna, Dittrich, Marcus, Riemens, Renzo J M, Stora, Samantha, Roche, Mathilde, Leber, Markus, Riedel-Heller, Steffi, Wagner, Michael, Scherer, Martin, Ravel, Aimé, Mircher, Clotilde, Cieuta-Walti, Cecile, Durand, Sophie, van de Hove, Daniel L A, Hoffmann, Per, Ramirez, Alfredo, Haaf, Thomas, El Hajj, Nady, Mégarbané, André
Published in Clinical epigenetics (16.12.2019)
Published in Clinical epigenetics (16.12.2019)
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Ictal and interictal substraction ECD-SPECT in refractory childhood epilepsy.† 1717
Cieuta-Walti, Cécile, Kaminska, Anna, Chiron, Catherine, Vera, Pierre, Plouin, Perrine, Dulac, Olivier
Published in Pediatric research (01.04.1997)
Published in Pediatric research (01.04.1997)
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