Detection of interferon alpha protein reveals differential levels and cellular sources in disease
Rodero, Mathieu P, Decalf, Jérémie, Bondet, Vincent, Hunt, David, Rice, Gillian I, Werneke, Scott, McGlasson, Sarah L, Alyanakian, Marie-Alexandra, Bader-Meunier, Brigitte, Barnerias, Christine, Bellon, Nathalia, Belot, Alexandre, Bodemer, Christine, Briggs, Tracy A, Desguerre, Isabelle, Frémond, Marie-Louise, Hully, Marie, van den Maagdenberg, Arn M J M, Melki, Isabelle, Meyts, Isabelle, Musset, Lucile, Pelzer, Nadine, Quartier, Pierre, Terwindt, Gisela M, Wardlaw, Joanna, Wiseman, Stewart, Rieux-Laucat, Frédéric, Rose, Yoann, Neven, Bénédicte, Hertel, Christina, Hayday, Adrian, Albert, Matthew L, Rozenberg, Flore, Crow, Yanick J, Duffy, Darragh
Published in The Journal of experimental medicine (01.05.2017)
Published in The Journal of experimental medicine (01.05.2017)
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Recurrent de novo mutations in CLDN5 induce an anion-selective blood–brain barrier and alternating hemiplegia
Hashimoto, Yosuke, Poirier, Karine, Boddaert, Nathalie, Hubert, Laurence, Aubart, Melodie, Kaminska, Anna, Alison, Marianne, Desguerre, Isabelle, Munnich, Arnold, Campbell, Matthew
Published in Brain (London, England : 1878) (21.10.2022)
Published in Brain (London, England : 1878) (21.10.2022)
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AMPK Activation Regulates LTBP4-Dependent TGF-β1 Secretion by Pro-inflammatory Macrophages and Controls Fibrosis in Duchenne Muscular Dystrophy
Juban, Gaëtan, Saclier, Marielle, Yacoub-Youssef, Houda, Kernou, Amel, Arnold, Ludovic, Boisson, Camille, Ben Larbi, Sabrina, Magnan, Mélanie, Cuvellier, Sylvain, Théret, Marine, Petrof, Basil J., Desguerre, Isabelle, Gondin, Julien, Mounier, Rémi, Chazaud, Bénédicte
Published in Cell reports (Cambridge) (20.11.2018)
Published in Cell reports (Cambridge) (20.11.2018)
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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
Barcia, Giulia, Fleming, Matthew R, Deligniere, Aline, Gazula, Valeswara-Rao, Brown, Maile R, Langouet, Maeva, Chen, Haijun, Kronengold, Jack, Abhyankar, Avinash, Cilio, Roberta, Nitschke, Patrick, Kaminska, Anna, Boddaert, Nathalie, Casanova, Jean-Laurent, Desguerre, Isabelle, Munnich, Arnold, Dulac, Olivier, Kaczmarek, Leonard K, Colleaux, Laurence, Nabbout, Rima
Published in Nature genetics (01.11.2012)
Published in Nature genetics (01.11.2012)
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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
Rice, Gillian I, Meyzer, Candice, Bouazza, Naïm, Hully, Marie, Boddaert, Nathalie, Semeraro, Michaela, Zeef, Leo A.H, Rozenberg, Flore, Bondet, Vincent, Duffy, Darragh, Llibre, Alba, Baek, Jinmi, Sambe, Mame N, Henry, Elodie, Jolaine, Valerie, Barnerias, Christine, Barth, Magalie, Belot, Alexandre, Cances, Claude, Debray, François-Guillaume, Doummar, Diane, Frémond, Marie-Louise, Kitabayashi, Naoki, Lepelley, Alice, Levrat, Virginie, Melki, Isabelle, Meyer, Pierre, Nougues, Marie-Christine, Renaldo, Florence, Rodero, Mathieu P, Rodriguez, Diana, Roubertie, Agathe, Seabra, Luis, Uggenti, Carolina, Abdoul, Hendy, Treluyer, Jean-Marc, Desguerre, Isabelle, Blanche, Stéphane, Crow, Yanick J
Published in The New England journal of medicine (06.12.2018)
Published in The New England journal of medicine (06.12.2018)
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Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
Aubart, Melodie, Gazal, Steven, Arnaud, Pauline, Benarroch, Louise, Gross, Marie-Sylvie, Buratti, Julien, Boland, Anne, Meyer, Vincent, Zouali, Habib, Hanna, Nadine, Milleron, Olivier, Stheneur, Chantal, Bourgeron, Thomas, Desguerre, Isabelle, Jacob, Marie-Paule, Gouya, Laurent, Génin, Emmanuelle, Deleuze, Jean-François, Jondeau, Guillaume, Boileau, Catherine
Published in European journal of human genetics : EJHG (01.12.2018)
Published in European journal of human genetics : EJHG (01.12.2018)
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Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
Audic, Frédérique, de la Banda, Marta Gomez Garcia, Bernoux, Delphine, Ramirez-Garcia, Paola, Durigneux, Julien, Barnerias, Christine, Isapof, Arnaud, Cuisset, Jean-Marie, Cances, Claude, Richelme, Christian, Vuillerot, Carole, Laugel, Vincent, Ropars, Juliette, Altuzarra, Cécilia, Espil-Taris, Caroline, Walther-Louvier, Ulrike, Sabouraud, Pascal, Chouchane, Mondher, Vanhulle, Catherine, Trommsdorff, Valérie, Pervillé, Anne, Testard, Hervé, Lagrue, Emmanuelle, Sarret, Catherine, Avice, Anne-Laude, Beze-Beyrie, Pierre, Pauly, Vanessa, Quijano-Roy, Susana, Chabrol, Brigitte, Desguerre, Isabelle
Published in Orphanet journal of rare diseases (12.06.2020)
Published in Orphanet journal of rare diseases (12.06.2020)
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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Castro, Diana, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail, Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Nathalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja K., Urreizti, Roser, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M., Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bönnemann, Carsten G., Wagner, Matias, Issa, Mahmoud Y., Elbendary, Hasnaa M., Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G., Zaki, Maha S., Senderek, Jan, Pandey, Udai Bhan
Published in Nature communications (07.05.2021)
Published in Nature communications (07.05.2021)
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Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes
Hully, Marie, Lo Barco, Tommaso, Kaminska, Anna, Barcia, Giulia, Cances, Claude, Mignot, Cyril, Desguerre, Isabelle, Garcelon, Nicolas, Kabashi, Edor, Nabbout, Rima
Published in Genetics in medicine (01.05.2021)
Published in Genetics in medicine (01.05.2021)
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A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
Lagrue, Emmanuelle, Dogan, Céline, De Antonio, Marie, Audic, Frédérique, Bach, Nathalie, Barnerias, Christine, Bellance, Rémi, Cances, Claude, Chabrol, Brigitte, Cuisset, Jean-Marie, Desguerre, Isabelle, Durigneux, Julien, Espil, Caroline, Fradin, Mélanie, Héron, Delphine, Isapof, Arnaud, Jacquin-Piques, Agnès, Journel, Hubert, Laroche-Raynaud, Cécile, Laugel, Vincent, Magot, Armelle, Manel, Véronique, Mayer, Michèle, Péréon, Yann, Perrier-Boeswillald, Julie, Peudenier, Sylviane, Quijano-Roy, Susana, Ragot-Mandry, Sylvie, Richelme, Christian, Rivier, François, Sabouraud, Pascal, Sarret, Catherine, Testard, Hervé, Vanhulle, Catherine, Walther-Louvier, Ulrike, Gherardi, Romain, Hamroun, Dalil, Bassez, Guillaume
Published in Neurology (19.02.2019)
Published in Neurology (19.02.2019)
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Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders
Loiselet, Klervie, Ruzzenente, Benedetta, Roux, Charles‐Joris, Barcia, Giulia, Pennisi, Alessandra, Desguerre, Isabelle, Rötig, Agnès, Munnich, Arnold, Boddaert, Nathalie, Levy, Raphaël, Dangouloff‐Ros, Volodia, Grévent, David, De Lonlay, Pascale
Published in Developmental medicine and child neurology (01.06.2021)
Published in Developmental medicine and child neurology (01.06.2021)
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Biallelic IARS2 mutations presenting as sideroblastic anemia
Barcia, Giulia, Pandithan, Dinusha, Ruzzenente, Benedetta, Assouline, Zahra, Pennisi, Alessandra, Ormieres, Clothilde, Besmond, Claude, Roux, Charles-Joris, Boddaert, Nathalie, Desguerre, Isabelle, Thorburn, David R, Bratkovic, Drago, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès, Steffann, Julie
Published in Haematologica (Roma) (01.04.2021)
Published in Haematologica (Roma) (01.04.2021)
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Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up
Desguerre, Isabelle, Christov, Christo, Mayer, Michele, Zeller, Reinhard, Becane, Henri-Marc, Bastuji-Garin, Sylvie, Leturcq, France, Chiron, Catherine, Chelly, Jamel, Gherardi, Romain K
Published in PloS one (05.02.2009)
Published in PloS one (05.02.2009)
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Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial
Seferian, Andreea Mihaela, Moraux, Amélie, Annoussamy, Mélanie, Canal, Aurélie, Decostre, Valérie, Diebate, Oumar, Le Moing, Anne-Gaëlle, Gidaro, Teresa, Deconinck, Nicolas, Van Parys, Frauke, Vereecke, Wendy, Wittevrongel, Sylvia, Mayer, Michèle, Maincent, Kim, Desguerre, Isabelle, Thémar-Noël, Christine, Cuisset, Jean-Marie, Tiffreau, Vincent, Denis, Severine, Jousten, Virginie, Quijano-Roy, Susana, Voit, Thomas, Hogrel, Jean-Yves, Servais, Laurent
Published in PloS one (02.02.2015)
Published in PloS one (02.02.2015)
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Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies
Lodi, Lorenzo, Melki, Isabelle, Bondet, Vincent, Seabra, Luis, Rice, Gillian I., Carter, Edwin, Lepelley, Alice, Martin-Niclós, Maria José, Al Adba, Buthaina, Bader-Meunier, Brigitte, Barth, Magalie, Blauwblomme, Thomas, Bodemer, Christine, Boespflug-Tanguy, Odile, Dale, Russel C., Desguerre, Isabelle, Ducrocq, Camille, Dulieu, Fabienne, Dumaine, Cécile, Ellul, Pierre, Hadchouel, Alice, Hentgen, Véronique, Hié, Miguel, Hully, Marie, Jeziorski, Eric, Lévy, Romain, Mochel, Fanny, Orcesi, Simona, Passemard, Sandrine, Pouletty, Marie, Quartier, Pierre, Renaldo, Florence, Seidl, Rainer, Shetty, Jay, Neven, Bénédicte, Blanche, Stéphane, Duffy, Darragh, Crow, Yanick J., Frémond, Marie-Louise
Published in Journal of clinical immunology (01.04.2021)
Published in Journal of clinical immunology (01.04.2021)
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Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
Barcia, Giulia, Rio, Marlène, Assouline, Zahra, Zangarelli, Coralie, Roux, Charles-Joris, de Lonlay, Pascale, Steffann, Julie, Desguerre, Isabelle, Munnich, Arnold, Bonnefont, Jean-Paul, Boddaert, Nathalie, Rötig, Agnès, Metodiev, Metodi D, Ruzzenente, Benedetta
Published in European journal of human genetics : EJHG (01.03.2021)
Published in European journal of human genetics : EJHG (01.03.2021)
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Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients
Meyer, Pierre, Notarnicola, Cécile, Meli, Albano C, Matecki, Stefan, Hugon, Gérald, Salvador, Jérémy, Khalil, Mirna, Féasson, Léonard, Cances, Claude, Cottalorda, Jérôme, Desguerre, Isabelle, Cuisset, Jean-Marie, Sabouraud, Pascal, Lacampagne, Alain, Chevassus, Hugues, Rivier, François, Carnac, Gilles
Published in International journal of molecular sciences (30.11.2021)
Published in International journal of molecular sciences (30.11.2021)
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Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment
Desguerre, Isabelle, Barrois, Rémi, Audic, Frédérique, Barnerias, Christine, Chabrol, Brigitte, Davion, Jean Baptiste, Durigneux, Julien, Espil-Taris, Caroline, Gomez-Garcia de la Banda, Marta, Guichard, Marine, Isapof, Arnaud, Nougues, Marie Christine, Laugel, Vincent, Le Goff, Laure, Mercier, Sandra, Pervillé, Anne, Richelme, Christian, Thibaud, Marie, Sarret, Catherine, Schweitzer, Cyril, Testard, Hervé, Trommsdorff, Valérie, Vanhulle, Catherine, Walther-Louvier, Ulrike, Altuzarra, Cécilia, Chouchane, Mondher, Ropars, Juliette, Quijano-Roy, Susana, Cances, Claude
Published in Orphanet journal of rare diseases (13.09.2024)
Published in Orphanet journal of rare diseases (13.09.2024)
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Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant
Dabaj, Ivana, Carlier, Robert Y, Dieterich, Klaus, Desguerre, Isabelle, Faure, Julien, Romero, Norma B, Trang, Wenting, Quijano-Roy, Susana, Germain, Dominique P
Published in Frontiers in genetics (09.03.2023)
Published in Frontiers in genetics (09.03.2023)
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Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood
Garcia‐Uzquiano, Rocio, Barcia, Giulia, Losito, Emma, Chemaly, Nicole, Kaminska, Anna, Desguerre, Isabelle, Blauwblomme, Thomas, Boddaert, Nathalie, Nabbout, Rima
Published in Epilepsia open (01.08.2024)
Published in Epilepsia open (01.08.2024)
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