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Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutationsAUTOPHAGYIF14.32014-10-2734OAAI
Pathophysiology of protein aggregation and extended phenotyping in filaminopathyBRAINIF11.72012-08-2970OAAI
Genetic variants in potassium channels are associated with type 2 diabetes in a Mongolian populationJOURNAL OF DIABETESIF3.72012-08-1726OAAI
Kuru: Genes, Cannibals and NeuropathologyJOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGYIF32012-02-0128OA
Tragedy in a heartbeat malfunctioning desmin causes skeletal and cardiac muscle disease (vol 119, pg 1806, 2009)JOURNAL OF CLINICAL INVESTIGATIONIF13.62011-01-041OA
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores (vol 87, pg 842, 2010)AMERICAN JOURNAL OF HUMAN GENETICSIF8.12011-01-012OAAI
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with CoresAMERICAN JOURNAL OF HUMAN GENETICSIF8.12010-12-01142OAAI
DNA sequencing errors in molecular diagnostics of filamin myopathyCLINICAL CHEMISTRY AND LABORATORY MEDICINEIF3.72010-06-2814PREAI
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle diseaseJOURNAL OF CLINICAL INVESTIGATIONIF13.62009-07-01188OA
Unclassified polysaccharidosis of the heart and skeletal muscle in siblings (vol 95, pg 52, 2008)MOLECULAR GENETICS AND METABOLISMIF3.52009-05-010OAAI
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: A novel myotilinopathy phenotype?JOURNAL OF THE NEUROLOGICAL SCIENCESIF3.22009-02-0110OAAI
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathyEUROPEAN JOURNAL OF HUMAN GENETICSIF4.62008-12-0363OAAI
Diversity of cardiomyopathy phenotypes caused by mutations in desminINTERNATIONAL JOURNAL OF CARDIOLOGYIF3.22008-12-0122PREAI
Unclassified polysaccharidosis of the heart and skeletal muscle in siblingsMOLECULAR GENETICS AND METABOLISMIF3.52008-09-0113OAAI
T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositisNEUROLOGYIF8.52007-10-2343PREAI
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