Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions
Harrer, Philip, Schalk, Audrey, Shimura, Masaru, Baer, Sarah, Calmels, Nadège, Spitz, Marie Aude, Warde, Marie‐Thérèse Abi, Schaefer, Elise, Kittke, Volker M.Sc, Dincer, Yasemin, Wagner, Matias, Dzinovic, Ivana, Berutti, Riccardo, Sato, Tatsuharu, Shirakawa, Toshihiko, Okazaki, Yasushi, Murayama, Kei, Oexle, Konrad, Prokisch, Holger, Mall, Volker, Melčák, Ivo, Winkelmann, Juliane, Zech, Michael
Published in Annals of neurology (01.02.2023)
Published in Annals of neurology (01.02.2023)
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PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review
Mercati, Oriane, Abi Warde, Marie-Thérèse, Lina-Granade, Geneviève, Rio, Marlène, Heide, Solveig, de Lonlay, Pascale, Ceballos-Picot, Irène, Robert, Matthieu P., Couloigner, Vincent, Beltrand, Jacques, Boddaert, Nathalie, Rodriguez, Diana, Rubinato, Elisa, Lapierre, Jean-Michel, Merlette, Christophe, Sanquer, Sylvia, Rötig, Agnès, Prokisch, Holger, Lyonnet, Stanislas, Loundon, Natalie, Kaplan, Josseline, Bonnefont, Jean-Paul, Munnich, Arnold, Besmond, Claude, Jonard, Laurence, Marlin, Sandrine
Published in European journal of medical genetics (01.11.2020)
Published in European journal of medical genetics (01.11.2020)
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Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management
Wicker, Camille, Roux, Charles-Joris, Goujon, Louise, de Feraudy, Yvan, Hully, Marie, Brassier, Anais, Bérat, Claire-Marine, Chemaly, Nicole, Wiedemann, Arnaud, Damaj, Lena, Abi-Warde, Marie-Thérèse, Dobbelaere, Dries, Roubertie, Agathe, Cano, Aline, Arion, Alina, Kaminska, Anna, Da Costa, Sabrina, Bruneel, Arnaud, Vuillaumier-Barrot, Sandrine, Boddaert, Nathalie, Pascreau, Tiffany, Borgel, Delphine, Kossorotoff, Manoelle, Harroche, Annie, de Lonlay, P.
Published in Molecular genetics and metabolism (01.11.2023)
Published in Molecular genetics and metabolism (01.11.2023)
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Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency
Spitz, Marie-Aude, Lenaers, Guy, Charif, Majida, Wirth, Thomas, Chelly, Jameleddine, Abi-Warde, Marie-Thérèse, Meyer, Pierre, Leboucq, Nicolas, Schaefer, Elise, Anheim, Mathieu, Roubertie, Agathe
Published in Neuropediatrics (01.10.2021)
Published in Neuropediatrics (01.10.2021)
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Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
Doummar, Diane, Dentel, Christel, Lyautey, Romane, Metreau, Julia, Keren, Boris, Drouot, Nathalie, Malherbe, Ludivine, Bouilleret, Viviane, Courraud, Jérémie, Valenti-Hirsch, Maria Paola, Minotti, Lorella, Dozieres-Puyravel, Blandine, Bär, Séverine, Scholly, Julia, Schaefer, Elise, Nava, Caroline, Wirth, Thomas, Nasser, Hala, de Salins, Marie, de Saint Martin, Anne, Warde, Marie Thérèse Abi, Kahane, Philippe, Hirsch, Edouard, Anheim, Mathieu, Friant, Sylvie, Chelly, Jamel, Mignot, Cyril, Rudolf, Gabrielle
Published in European journal of human genetics : EJHG (01.10.2020)
Published in European journal of human genetics : EJHG (01.10.2020)
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Large-scale screening of lipase acid deficiency in at risk population
Tebani, Abdellah, Sudrié-Arnaud, Bénédicte, Boudabous, Hela, Brassier, Anais, Anty, Rodolphe, Snanoudj, Sarah, Abergel, Armand, Abi Warde, Marie-Thérèse, Bardou-Jacquet, Edouard, Belbouab, Reda, Blanchet, Eloi, Borderon, Corinne, Bronowicki, Jean-Pierre, Cariou, Bertrand, Carette, Claire, Dabbas, Myriam, Dranguet, Hélène, de Ledinghen, Victor, Ferrières, Jean, Guillaume, Maeva, Krempf, Michel, Lacaille, Florence, Larrey, Dominique, Leroy, Vincent, Musikas, Marietta, Nguyen-Khac, Eric, Ouzan, Denis, Perarnau, Jean-Marc, Pilon, Carine, Ratzlu, Vlad, Thebaut, Alice, Thevenot, Thierry, Tragin, Isabelle, Triolo, Valérie, Vergès, Bruno, Vergnaud, Sabrina, Bekri, Soumeya
Published in Clinica chimica acta (01.08.2021)
Published in Clinica chimica acta (01.08.2021)
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Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders
Pontoizeau, Clément, Roda, Célina, Arnoux, Jean-Baptiste, Vignolo-Diard, Patricia, Brassier, Anais, Habarou, Florence, Barbier, Valérie, Grisel, Coraline, Abi-Warde, Marie-Thérèse, Boddaert, Nathalie, Kuster, Alice, Servais, Aude, Kaminska, Anna, Hennequin, Carole, Dupic, Laurent, Lesage, Fabrice, Touati, Guy, Valayannopoulos, Vassili, Chadefaux-Vekemans, Bernadette, Oualha, Mehdi, Eisermann, Monika, Ottolenghi, Chris, de Lonlay, Pascale
Published in Molecular genetics and metabolism (01.06.2020)
Published in Molecular genetics and metabolism (01.06.2020)
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The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
Arnaud, Lionel, Abi Warde, Marie-Thérèse, Barcia, Giulia, de Bellescize, Julitta, Chatron, Nicolas, Faoucher, Marie, de Saint Martin, Anne, Héron, Delphine, Jedraszak, Guillaume, Lacoste, Caroline, Lèbre, Anne-Sophie, Jenneson-Lyver, Mélanie, Labalme, Audrey, Leguern, Eric, Mignot, Cyril, Milh, Mathieu, Nabbout, Rima, Nava, Caroline, Panagiotakaki, Eleni, Piton, Amélie, Schaefer, Elise, Thevenon, Julien, Villard, Laurent, Ville, Dorothée, Lesca, Gaetan
Published in European journal of medical genetics (01.03.2022)
Published in European journal of medical genetics (01.03.2022)
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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases
Cabasson, Sébastien, Van-Gils, Julien, Villéga, Frédéric, Abi-Warde, Marie-Thérèse, Barcia, Giulia, Lazaro, Leila, Cancés, Claude, Chelly, Jamel, Karsenty, Caroline, Rivera, Serge, de Saint-Martin, Anne, Trimouille, Aurélien, Villard, Laurent, Pédespan, Jean-Michel
Published in European journal of paediatric neurology (01.09.2020)
Published in European journal of paediatric neurology (01.09.2020)
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Journal Article
Defining the phenotypic spectrum of SLC6A1 mutations
Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Saint Martin, Anne, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J. Lawrence, Rodan, Lance H., Tan, Wen‐Hann, Bird, Lynne M., Nespeca, Mark, Gleeson, Joseph G., Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S., Schelhaas, Helenius J., Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G., Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E., Pisani, Laura, Myers, Candace T., Tang, Sha, Tang, Shan, Pal, Deb K., Millichap, John J., Carvill, Gemma L., Helbig, Kathrine L., Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C., Møller, Rikke S.
Published in Epilepsia (Copenhagen) (01.02.2018)
Published in Epilepsia (Copenhagen) (01.02.2018)
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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C., Fragaki, Konstantina, Volker-Touw, Catharina L.M., Vasnier, Christelle, Serre, Valérie, van Gassen, Koen L.I., Lespinasse, Françoise, Richter, Susan, Eisenhofer, Graeme, Rouzier, Cécile, Mochel, Fanny, De Saint-Martin, Anne, Abi Warde, Marie-Thérèse, de Sain-van der Velde, Monique G.M., Jans, Judith J.M., Amiel, Jeanne, Avsec, Ziga, Mertes, Christian, Haack, Tobias B., Strom, Tim, Meitinger, Thomas, Bonnen, Penelope E., Taylor, Robert W., Gagneur, Julien, van Hasselt, Peter M., Rötig, Agnès, Delahodde, Agnès, Prokisch, Holger, Fuchs, Sabine A., Paquis-Flucklinger, Véronique
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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Journal Article
UQCRC2-related mitochondrial complex III deficiency, about 7 patients
Bansept, Claire, Gaignard, Pauline, Lebigot, Elise, Eyer, Didier, Delplancq, Geoffroy, Hoebeke, Célia, Mazodier, Karin, Ledoyen, Anaïs, Rouzier, Cécile, Fragaki, Konstantina, Ait-El-Mkadem Saadi, Samira, Philippe, Christophe, Bruel, Ange-Line, Faivre, Laurence, Feillet, François, Abi Warde, Marie-Thérèse
Published in Mitochondrion (01.01.2023)
Published in Mitochondrion (01.01.2023)
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Journal Article
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
Rötig, Agnès, Gaignard, Pauline, Barcia, Giulia, Assouline, Zahra, Berat, Claire-Marine, Barth, Magalie, Damaj, Léna, Laborde, Nolwenn, Abi-Warde, Marie-Thérèse, Chabrol, Brigitte, De Lonlay, Pascale, Desguerre, Isabelle, Goldenberg, Alice, Gonzales, Emmanuel, Jacquemin, Emmanuel, Amati-Bonneau, Patrizia, Bonneau, Dominique, Abadie, Véronique, Bonnemains, Chrystèle, Broue, Pierre, De Saint-Martin, Anne, Durand, Philippe, Fouilhoux, Alain, Isidor, Bertrand, Jaroussie, Marianne, Jedraszak, Guillaume, Maurey, Hélène, Mention, Karine, Odent, Sylvie S, Pasquier, Laurent, Rougeot-Jung, Christelle, Gitiaux, Cyril, Roux, Charles-Joris, Boddaert, Nathalie, Munnich, Arnold, Schiff, Manuel
Published in Neurology. Genetics (01.08.2024)
Published in Neurology. Genetics (01.08.2024)
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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.
Published in Molecular psychiatry (01.02.2023)
Published in Molecular psychiatry (01.02.2023)
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The different clinical facets of SYN1 -related neurodevelopmental disorders
Parenti, Ilaria, Leitão, Elsa, Kuechler, Alma, Villard, Laurent, Goizet, Cyril, Courdier, Cécile, Bayat, Allan, Rossi, Alessandra, Julia, Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Nambot, Sophie, Lehalle, Daphné, Willems, Marjolaine, Lespinasse, James, Ghoumid, Jamal, Caumes, Roseline, Smol, Thomas, El Chehadeh, Salima, Schaefer, Elise, Abi-Warde, Marie-Thérèse, Keren, Boris, Afenjar, Alexandra, Tabet, Anne-Claude, Levy, Jonathan, Maruani, Anna, Aledo-Serrano, Ángel, Garming, Waltraud, Milleret-Pignot, Clara, Chassevent, Anna, Koopmans, Marije, Verbeek, Nienke E, Person, Richard, Belles, Rebecca, Bellus, Gary, Salbert, Bonnie A, Kaiser, Frank J, Mazzola, Laure, Convers, Philippe, Perrin, Laurine, Piton, Amélie, Wiegand, Gert, Accogli, Andrea, Brancati, Francesco, Benfenati, Fabio, Chatron, Nicolas, Lewis-Smith, David, Thomas, Rhys H, Zara, Federico, Striano, Pasquale, Lesca, Gaetan, Depienne, Christel
Published in Frontiers in cell and developmental biology (08.12.2022)
Published in Frontiers in cell and developmental biology (08.12.2022)
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Molecular and clinical description of patients with GABA A receptor gene variants ( GABRA1 , GABRB2 , GABRB3 , GABRG2 ): a cohort study, review of literature, and genotype‐phenotype correlations
Maillard, Pierre‐yves, Baer, Sarah, Schaefer, Élise, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Fabre, Alexandre, Lacoste, Caroline, El Chehadeh, Salima, Piton, Amélie, Porter, Louise Frances, Perriard, Caroline, Abi Wardé, Marie‐thérèse, Spitz, Marie‐aude, Laugel, Vincent, Lesca, Gaëtan, Putoux, Audrey, Ville, Dorothée, Mignot, Cyril, Héron, Delphine, Nabbout, Rima, Barcia, Giulia, Rio, Marlène, Roubertie, Agathe, Meyer, Pierre, Paquis-Flucklinger, Véronique, Patat, Olivier, Lefranc, Jérémie, Gerard, Marion, de Bellescize, Julietta, Villard, Laurent, de Saint Martin, Anne, Milh, Mathieu
Published in Epilepsia (Copenhagen) (06.10.2022)
Published in Epilepsia (Copenhagen) (06.10.2022)
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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van ‘t Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C
Published in Journal of medical genetics (01.12.2016)
Published in Journal of medical genetics (01.12.2016)
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