학술논문
Phenotype, Genetics and Natural History in 146 Patients with SEPN1-Related Myopathy: On the Way to Therapeutic Trials in a Rare Disorder
Document Type
Journal
Author
Malfatti, Edoardo; Martinez, Victoria Gonzalez; Von der Hagen, Maja; Chabalier, Delphine; Quijano-Roy, Susana; David, Orlikowski; Moghadaszadeh, Behzad; Boenne-Mann, Carsten; Bushby, Kate; Castiglioni, Claudia; Ceuterick, Chantal; Chaigne, Denys; Colomer, Jaume; Desguerre, Isabelle; De Visser, Marianne; Elcioglu, Nursel; Eymard, Bruno; Fidzianska, Anna; Goemans, Nathalie; Jungbluth, Heinz; Kaindl, Angela; Labarre-Vila, Annick; Schlotter-Weigel, Beate; Leroy, Jean Paul; Lochmuller, Hanns; Mayer, Michele; Voit, Thomas; Martin, Jean-Jacques; Straub, Volker; Stoetter, Mechthild; Merlini, Luciano; Bertini, Enrico; Pellegrini, Nadine; Quinlivan, Rosaline; Romero, Norma B.; Sewry, Caroline; Topaloglu, Haluk; Toutain, Annick; Beggs, Alan; Salih, Mustafa; Urtizberea, Andoni; Van der Kooi, Anneke; Viollet, Louis; Fardeau, Michel; Muntoni, Francesco; Guicheney, Pascale; Richard, Pascale; Estournet, Brigitte; Schara, Ulrike; Ferreiro, Ana
Source
Subject
Language
English
ISSN
00283878