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Research Interests

Papers共 242 篇Author StatisticsCo-AuthorSimilar Experts

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Biallelic Variants in SNUPN Cause a Limb Girdle Muscular Dystrophy with Myofibrillar-Like Features
Pablo Iruzubieta, Alberto Damborenea,Mihaela Ioghen,Simon Bajew, Roberto Fernandez-Torron,Ana Topf, Alvaro Herrero-Reiriz,Diana Epure,Katharina Vill,Aurelio Hernandez-Lain, Maria Manterola,Mikel Azkargorta, Oihane Pikatza-Menoio, Laura Perez-Fernandez,Mikel Garcia-Puga,Gisela Gaina,Alexandra Bastian,Ioana Streata,Maggie C. Walter,Wolfgang Muller-Felber,Simone Thiele, Saioa Moragon, Nerea Bastida-Lertxundi, Aitziber Lopez-Cortajarena,Felix Elortza,Gorka Gerenu, Sonia Alonso-Martin,Volker Straub,David de Sancho,Raluca Teleanu,Adolfo Lopez de Munain,Lorea Blazquez
BRAINno. 8 (2024): 2867-2883
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Digenic Inheritance Involving a Muscle Specific Protein Kinase and the Giant Titin Protein Causes a Skeletal Muscle Myopathy
Ana Töpf, Dan Cox,Irina T. Zaharieva,Valeria Di Leo,Jaakko Sarparanta,Per Harald Jonson,Ian M. Sealy,Andrei Smolnikov,Richard J. White,Anna Vihola,Marco Savarese,Munise Merteroglu,Neha Wali,Kristen M. Laricchia,Cristina Venturini,Bas Vroling,Sarah L. Stenton,Beryl B. Cummings,Elizabeth Harris,Chiara Marini-Bettolo,Jordi Diaz-Manera, Matt Henderson,Rita Barresi,Jennifer Duff,Eleina M. England, Jane Patrick, Sundos Al-Husayni,Valerie Biancalana,Alan H. Beggs,Istvan Bodi,Shobhana Bommireddipalli,Carsten G. Bönnemann,Anita Cairns, Mei-Ting Chiew,Kristl G. Claeys,Sandra T. Cooper,Mark R. Davis,Sandra Donkervoort,Corrie E. Erasmus,Mahmoud R. Fassad,Casie A. Genetti,Carla Grosmann,Heinz Jungbluth,Erik-Jan Kamsteeg,Xavière Lornage,Wolfgang N. Löscher,Edoardo Malfatti,Adnan Manzur,Pilar Martí,Tiziana E. Mongini,Nuria Muelas,Atsuko Nishikawa,Anne O’Donnell-Luria,Narumi Ogonuki,Gina L. O’Grady,Emily O’Heir,Stéphanie Paquay,Rahul Phadke,Beth A. Pletcher,Norma B. Romero,Meyke Schouten, Snehal Shah,Izelle Smuts,Yves Sznajer,Giorgio Tasca,Robert W. Taylor,Allysa Tuite,Peter Van den Bergh,Grace VanNoy,Nicol C. Voermans,Julia V. Wanschitz,Elizabeth Wraige, Kimihiko Yoshimura,Emily C. Oates,Osamu Nakagawa,Ichizo Nishino,Jocelyn Laporte,Juan J. Vilchez,Daniel G. MacArthur,Anna Sarkozy,Heather J. Cordell,Bjarne Udd,Elisabeth M. Busch-Nentwich,Francesco Muntoni,Volker Straub
NATURE GENETICS（2024）
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Author Statistics

#Papers: 244

#Citation: 3496

H-Index: 29

G-Index: 54

Sociability: 8

Diversity: 0

Activity: 5

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