Severe paediatric conditions linked with EV-A71 and EV-D68, France, May to October 2016

by Antona, Denise, Kossorotoff, Manoëlle, Schuffenecker, Isabelle, Mirand, Audrey, Leruez-Ville, Marianne, Bassi, Clément, Aubart, Mélodie, Moulin, Florence, Lévy-Bruhl, Daniel, Henquell, Cécile, Lina, Bruno, Desguerre, Isabelle
Published 2016

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

by Nizon, Mathilde, Ottolenghi, Chris, Valayannopoulos, Vassili, Arnoux, Jean-Baptiste, Barbier, Valérie, Habarou, Florence, Desguerre, Isabelle, Boddaert, Nathalie, Bonnefont, Jean-Paul, Acquaviva, Cécile, Benoist, Jean-François, Rabier, Daniel, Touati, Guy, de Lonlay, Pascale
Published 2013

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

by Megahed, Hisham, Nicouleau, Michaël, Barcia, Giulia, Medina-Cano, Daniel, Siquier-Pernet, Karine, Bole-Feysot, Christine, Parisot, Mélanie, Masson, Cécile, Nitschké, Patrick, Rio, Marlène, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Colleaux, Laurence, Cantagrel, Vincent
Published 2016

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

by Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, Billette de Villemeur, Thierry, Rodriguez, Diana
Published 2012

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

by Mignot, Cyril, Apartis, Emmanuelle, Durr, Alexandra, Marques Lourenço, Charles, Charles, Perrine, Devos, David, Moreau, Caroline, de Lonlay, Pascale, Drouot, Nathalie, Burglen, Lydie, Kempf, Nadine, Nourisson, Elsa, Chantot-Bastaraud, Sandra, Lebre, Anne-Sophie, Rio, Marlène, Chaix, Yves, Bieth, Eric, Roze, Emmanuel, Bonnet, Isabelle, Canaple, Sandrine, Rastel, Coralie, Brice, Alexis, Rötig, Agnès, Desguerre, Isabelle, Tranchant, Christine, Koenig, Michel, Anheim, Mathieu
Published 2013

CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy

by Pinto-Mariz, Fernanda, Rodrigues Carvalho, Luciana, Prufer De Queiroz Campos Araujo, Alexandra, De Mello, Wallace, Gonçalves Ribeiro, Márcia, Cunha, Maria Do Carmo Soares Alves, Cabello, Pedro Hernan, Riederer, Ingo, Negroni, Elisa, Desguerre, Isabelle, Veras, Mariana, Yada, Erica, Allenbach, Yves, Benveniste, Olivier, Voit, Thomas, Mouly, Vincent, Silva-Barbosa, Suse Dayse, Butler-Browne, Gillian, Savino, Wilson
Published 2015

Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial

by 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 2015

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

by Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S., Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K., Scott, Eric M., Silhavy, Jennifer L., Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E., Gordts, Philip, Esko, Jeffrey D., Buschman, Matthew D., Fields, Seth J., Napolitano, Gennaro, Ozgul, R. Koksal, Sagiroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Gamal, Iman, Hadi, Sawsan Abdel, El Badawy, Amera, Sadek, Abdelrahim A., Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B., de Lonlay, Pascale, Gleeson, Joseph G.
Published 2015

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

by Rice, Gillian I, del Toro Duany, Yoandris, Jenkinson, Emma M, Forte, Gabriella MA, Anderson, Beverley H, Ariaudo, Giada, Bader-Meunier, Brigitte, Baildam, Eileen M, Battini, Roberta, Beresford, Michael W, Casarano, Manuela, Chouchane, Mondher, Cimaz, Rolando, Collins, Abigail E, Cordeiro, Nuno JV, Dale, Russell C, Davidson, Joyce E, De Waele, Liesbeth, Desguerre, Isabelle, Faivre, Laurence, Fazzi, Elisa, Isidor, Bertrand, Lagae, Lieven, Latchman, Andrew R, Lebon, Pierre, Li, Chumei, Livingston, John H, Lourenço, Charles M, Mancardi, Maria Margherita, Masurel-Paulet, Alice, McInnes, Iain B, Menezes, Manoj P, Mignot, Cyril, O’Sullivan, James, Orcesi, Simona, Picco, Paolo P, Riva, Enrica, Robinson, Robert A, Rodriguez, Diana, Salvatici, Elisabetta, Scott, Christiaan, Szybowska, Marta, Tolmie, John L, Vanderver, Adeline, Vanhulle, Catherine, Vieira, Jose Pedro, Webb, Kate, Whitney, Robyn N, Williams, Simon G, Wolfe, Lynne A, Zuberi, Sameer M, Hur, Sun, Crow, Yanick J
Published 2014