The French EVAL-PLH cohort of persons with polyhandicap

por Hamouda, Ilyes, Rousseau, Marie-Christine, Beltran Anzola, Any, Aim, Marie-Anastasie, de Villemeur, Thierry Billette, Auquier, Pascal, Baumstarck, Karine
Publicado 2022

Type 3 Gaucher disease, diagnostic in adulthood

por Detollenaere, Charles, Benghergbia, Monia, Brassier, Anaïs, de Villemeur, Thierry Billette, Amsallem, Daniel, Berger, Marc, Stirnemann, Jérôme, Belmatoug, Nadia, Rose, Christian
Publicado 2017

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease

por Lefebvre, Thibaud, Reihani, Niloofar, Daher, Raed, de Villemeur, Thierry Billette, Belmatoug, Nadia, Rose, Christian, Colin-Aronovicz, Yves, Puy, Hervé, Le Van Kim, Caroline, Franco, Mélanie, Karim, Zoubida
Publicado 2018

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

por Héron, Bénédicte, Valayannopoulos, Vassili, Baruteau, Julien, Chabrol, Brigitte, Ogier, Hélène, Latour, Philippe, Dobbelaere, Dries, Eyer, Didier, Labarthe, François, Maurey, Hélène, Cuisset, Jean-Marie, de Villemeur, Thierry Billette, Sedel, Frédéric, Vanier, Marie T
Publicado 2012

The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

por Stirnemann, Jérôme, Vigan, Marie, Hamroun, Dalil, Heraoui, Djazia, Rossi-Semerano, Linda, Berger, Marc G, Rose, Christian, Camou, Fabrice, de Roux-Serratrice, Christine, Grosbois, Bernard, Kaminsky, Pierre, Robert, Alain, Caillaud, Catherine, Froissart, Roselyne, Levade, Thierry, Masseau, Agathe, Mignot, Cyril, Sedel, Frédéric, Dobbelaere, Dries, Vanier, Marie T, Valayanopoulos, Vassili, Fain, Olivier, Fantin, Bruno, de Villemeur, Thierry Billette, Mentré, France, Belmatoug, Nadia
Publicado 2012

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

por 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
Publicado 2018

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

por Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Eyck, Lien Van, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, de Villemeur, Thierry Billette, Bley, Annette E., Blumkin, Lubov, Boespflug-Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François-Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Hagelsrum, Gunilla Drake af, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie-Christine, Oppermann, Ilena, Pérez-Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Haren, Keith Van, Vila, Miguel Tomas, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.
Publicado 2020