Výsledky vyhledávání - Caroline Espil

  • Zobrazuji výsledky 1 - 6 z 6
Upřesnit hledání
  1. 1
    The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

    The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein Autor Cécile Rouzier, Sandie Le Guédard-Méreuze, Konstantina Fragaki, Valérie Serre, Julie Miro, Sylvie Tuffery‐Giraud, Annabelle Chaussenot, Sylvie Bannwarth, C. Caruba, Elsebet Østergaard, J.-F. Pellissier, Christian Richelme, Caroline Espil, B. Chabrol, Véronique Paquis‐Flucklinger

    Vydáno 2010
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

    Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age Autor Sandra Mercier, Annick Toutain, Aurélie Toussaint, Martine Raynaud, Claire De Barace, Pascale Marcorelles, Laurent Pasquier, Martine Blayau, Caroline Espil, P. Parent, Hubert Journel, Leïla Lazaro, Jon Andoni Urtizberea, Alexandre Moerman, Laurence Bonhomme‐Faivre, B. Eymard, Kim Maincent, Romain K. Gherardi, Denys Chaigne, Rabah Ben Yaou, France Leturcq, Jamel Chelly, Isabelle Desguerre

    Vydáno 2013
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

    Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study Autor Frédérique Audic, M. Gómez García de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, J. Durigneux, Christine Barnérias, Arnaud Isapof, Jean‐Marie Cuisset, Claude Cancès, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil‐Taris, Ulrike Walther‐Louvier, Pascal Sabouraud, Mondher Chouchane, Catherine Vanhulle, Valérie Trommsdorff, Anne Pervillé, Hervé Testard, Emmanuelle Lagrue, Catherine Sarret, Anne-Laude Avice, P. Bèze-Beyrie, Vanessa Pauly, Susana Quijano‐Roy, B. Chabrol, Isabelle Desguerre

    Vydáno 2020
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

    Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Autor Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, Claude Jardel, Annabelle Chaussenot, Claire Hoarau, Hassani Maoulida, Nathanaël Charrier, Xiaowu Gai, Hongbo Xie, Marc Ferré, Konstantina Fragaki, G. Hardy, Bénédicte Mousson de Camaret, Sandrine Marlin, Claire Marie Dhaenens, Abdelhamid Slama, Christophe Rocher, Jean‐Paul Bonnefont, Agnès Rötig, Nadia Aoutil, Martine Gilleron, Valérie Desquiret‐Dumas, Pascal Reynier, Jennifer Ceresuela, Laurence Jonard, Aurore Devos, Caroline Espil‐Taris, Delphine Martinez, Pauline Gaignard, Kim‐Hanh Le Quan Sang, Patrizia Amati‐Bonneau, Marni J. Falk, Catherine Florentz, B. Chabrol, Isabelle Durand‐Zaleski, Véronique Paquis‐Flucklinger

    Vydáno 2013
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

    JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study Autor Marie‐Louise Frémond, Marie Hully, Benjamin Fournier, Rémi Barrois, Romain Lévy, Mélodie Aubart, Martin Castelle, Delphine Chabalier, Clarisse Gins, Eugénie Sarda, Buthaina Al Adba, Sophie Couderc, Carla Almeida, Claire‐Marine Bérat, Chloé Durrleman, Caroline Espil, Laëtitia Lambert, C. Méni, Maximilien Périvier, Pascal Pillet, Laura Polivka, Manuel Schiff, Calina Todosi, Florence Uettwiller, Alice Lepelley, Gillian Rice, Luís Seabra, Sylvia Sanquer, Anne Hulin, Claire Pressiat, Lauriane Goldwirt, Vincent Bondet, Darragh Duffy, Despina Moshous, Brigitte Bader‐Meunier, Christine Bodemer, Florence Robin-Renaldo, Nathalie Boddaert, Stéphane Blanche, Isabelle Desguerre, Yanick J. Crow, Bénédicte Neven

    Vydáno 2023
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

    Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pom... Autor I. Ditters, Hidde H. Huidekoper, Michelle E. Kruijshaar, Dimitris Rizopoulos, Andreas Hahn, Tiziana Mongini, François Labarthe, M. Tardieu, B. Chabrol, Anaïs Brassier, Rossella Parini, Giancarlo Parenti, Nadine A. M. E. van der Beek, Ans T. van der Ploeg, Johanna M. P. van den Hout, Eugen Mengel, Julia B. Hennermann, Martin Smitka, Nicole Muschol, Thorsten Marquardt, Martina Marquardt, Charlotte Thiels, Marco Spada, Veronica Pagliardini, Francesca Menni, Roberto Della Casa, Federica Deodato, Serena Gasperini, Alberto Burlina, Alice Donati, Samia Pichard, François Feillet, Frédéric Huet, Karine Mention, Didier Eyer, Alice Kuster, Caroline Espil Taris, Jérémie Lefranc, Magalie Barth, H. Bruel, L. Chevret, Gaële Pitelet, Catherine Pitelet, François Rivier, Dries Dobbelaere

    Vydáno 2021
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: