Phenotype, Genetics and Natural History in 146 Patients with Sepn1-Related Myopathy: on the Way to Therapeutic Trials in A Rare Disorder
Edoardo Malfatti, Victoria Gonzalez Martinez,Maja Von der Hagen,Delphine Chabalier,Susana Quijano-Roy,Orlikowski David,Behzad Moghadaszadeh,Carsten Boenne-Mann,Kate Bushby,Claudia Castiglioni,Chantal Ceuterick,Denys Chaigne,Jaume Colomer,Isabelle Desguerre,Marianne De Visser,Nursel Elcioglu,Bruno Eymard,Anna Fidzianska,Nathalie Goemans,Heinz Jungbluth,Angela Kaindl,Annick Labarre-Vila,Beate Schlotter-Weigel,Jean Paul Leroy,Hanns Lochmuller,Michele Mayer,Thomas Voit,Jean-Jacques Martin,Volker Straub,Mechthild Stoetter,Luciano Merlini,Enrico Bertini,Nadine Pellegrini,Rosaline Quinlivan,Norma B. Romero,Caroline Sewry,Haluk Topaloglu,Annick Toutain,Alan Beggs, Mustafa Salih,Andoni Urtizberea,Anneke Van der Kooi,Louis Viollet,Michel Fardeau,Francesco Muntoni,Pascale Guicheney,Pascale Richard,Brigitte Estournet,Ulrike Schara,Ana Ferreiro NEUROLOGY（2011）
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