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Research Interests

Papers共 72 篇Author StatisticsCo-AuthorSimilar Experts

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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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474P Identifying Biological Pathomechanisms of TTN-affected Myopathies Using RNA-sequencing Data
S. Natraj Gayathri,P. Jonson, A. Oghabian, V. Lillback, V. Sian,A. Roos,P. Hackman,B. Udd,M. Savarese
Neuromuscular Disorders (2024): 104441.311
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Author Statistics

#Papers: 70

#Citation: 950

H-Index: 18

G-Index: 27

Sociability: 6

Diversity: 2

Activity: 30

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