Nuria Muelas
Universitat de València(ES)Hospital Universitari i Politècnic La Fe(ES)Centre for Biomedical Network Research on Rare Diseases(ES)Centro de Investigación Biomédica en Red(ES)ERN GUARD-Heart(NL)Instituto de Investigación Sanitaria La Fe(ES)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research, Mitochondrial Function and Pathology
Most-Cited Works
- → A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy(2010)224 cited
- → Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect(2011)171 cited
- → Charcot-Marie-Tooth disease(2013)129 cited
- → Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness(2020)106 cited
- → MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy(2010)105 cited
- → Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy(2008)99 cited