Spectrum of pontocerebellar hypoplasia in 13 girls and boys with <it>CASK </it>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 2012-03-01

Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective study

by Ng Wing Tin Sophie, Martin-Duverneuil Nadine, Idbaih Ahmed, Garel Catherine, Ribeiro Maria, Parker Judith, Defachelles Anne-Sophie, Lambilliotte Anne, Barkaoui Mohamed, Munzer Martine, Gardembas Martine, Sibilia Jean, Lutz Patrick, Fior Renato, Polak Michel, Robert Alain, Aumaitre Olivier, Plantaz Dominique, Armari-Alla Corinne, Genereau Thierry, Berard Perrine, Talom Ghislain, Pennaforte Jean-Loup, Le Pointe Hubert, Barthez Marie-Anne, Couillault Gérard, Haroche Julien, Mokhtari Karima, Donadieu Jean, Hoang-Xuan Khê
Published 2011-12-01