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TÍTULO: The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations  Full Text
AUTORES: Catherine L Bladen; David Salgado; Soledad Monges; Maria E Foncuberta; Kyriaki Kekou; Konstantina Kosma; Hugh Dawkins; Leanne Lamont; Anna J Roy; Teodora Chamova; Velina Guergueltcheva; Sophelia Chan; Lawrence Korngut; Craig Campbell; Yi Dai; Jen Wang; Nina Barisic; Petr Brabec; Jaana Lahdetie; Maggie C Walter; Olivia Schreiber Katz; Veronika Karcagi; Marta Garami; Venkatarman Viswanathan; Farhad Bayat; Filippo Buccella; En Kimura; Zaida Koeks; Janneke C van den Bergen; Miriam Rodrigues; Richard Roxburgh; Anna Lusakowska; Anna Kostera Pruszczyk; Janusz Zimowski; Rosario Santos; Elena Neagu; Svetlana Artemieva; Vedrana Milic Rasic; Dina Vojinovic; Manuel Posada; Clemens Bloetzer; Pierre Yves Jeannet; Franziska Joncourt; Jordi Diaz Manera; Eduard Gallardo; Ayse A Karaduman; Haluk Topaloglu; Rasha El Sherif; Angela Stringer; Andriy V Shatillo; Ann S Martin; Holly L Peay; Matthew I Bellgard; Jan Kirschner; Kevin M Flanigan; Volker Straub; Kate Bushby; Jan Verschuuren; Annemieke Aartsma Rus; Christophe Beroud; Hanns Lochmueller; ...Mais
PUBLICAÇÃO: 2015, FONTE: HUMAN MUTATION, VOLUME: 36, NÚMERO: 4
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia  Full Text
AUTORES: Catherine L Bladen; Karen Rafferty; Volker Straub; Soledad Monges; Angelica Moresco; Hugh Dawkins; Anna Roy; Teodora Chamova; Velina Guergueltcheva; Lawrence Korngut; Craig Campbell; Yi Dai; Nina Barisic; Tea Kos; Petr Brabec; Jes Rahbek; Jaana Lahdetie; Sylvie Tuffery Giraud; Mireille Claustres; France Leturcq; Rabah Ben Yaou; Maggie C Walter; Olivia Schreiber; Veronika Karcagi; Agnes Herczegfalvi; Venkatarman Viswanathan; Farhad Bayat; Isis de la Caridad Guerrero Sarmiento; Anna Ambrosini; Francesca Ceradini; En Kimura; Janneke C van den Bergen; Miriam Rodrigues; Richard Roxburgh; Anna Lusakowska; Jorge Oliveira; Rosario Santos; Elena Neagu; Niculina Butoianu; Svetlana Artemieva; Vedrana Milic Rasic; Manuel Posada; Francesc Palau; Bjorn Lindvall; Clemens Bloetzer; Ayse Karaduman; Haluk Topaloglu; Serap Inal; Piraye Oflazer; Angela Stringer; Andriy V Shatillo; Ann S Martin; Holly Peay; Kevin M Flanigan; David Salgado; Brigitta von Rekowski; Stephen Lynn; Emma Heslop; Sabina Gainotti; Domenica Taruscio; Jan Kirschner; Jan Verschuuren; Kate Bushby; Christophe Beroud; Hanns Lochmueller; ...Mais
PUBLICAÇÃO: 2013, FONTE: HUMAN MUTATION, VOLUME: 34, NÚMERO: 11
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia  Full Text
AUTORES: Magdalena Zimon; Jonathan Baets; Leonardo Almeida Souza; Els De Vriendt; Jelena Nikodinovic; Yesim Parman; Esra Battaloglu; Zeliha Matur; Velina Guergueltcheva; Ivailo Tournev; Michaela Auer Grumbach; Peter De Rijk; Britt Sabina Petersen; Thomas Mueller; Erik Fransen; Philip Van Damme; Wolfgang N Loescher; Nina Barisic; Zoran Mitrovic; Stefano C Previtali; Haluk Topaloglu; Guenther Bernert; Ana Beleza Meireles; Slobodanka Todorovic; Dusanka Savic Pavicevic; Boryana Ishpekova; Silvia Lechner; Kristien Peeters; Tinne Ooms; Angelika F Hahn; Stephan Zuechner; Vincent Timmerman; Patrick Van Dijck; Vedrana Milic Rasic; Andreas R Janecke; Peter De Jonghe; Albena Jordanova; ...Mais
PUBLICAÇÃO: 2012, FONTE: NATURE GENETICS, VOLUME: 44, NÚMERO: 10
INDEXADO EM: Scopus WOS