Lidia González‐Quereda
0000-0003-0715-6414
Publication & Citation Trends
Publications
0 total
345PAcquired lipid storage myopathy with MADD acylcarnitine profile secondary to sertraline treatment: an emerging disorder
Cited by 0
Semantic Scholar
Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum. OA
Cited by 0
Semantic Scholar
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Cited by 1
Semantic Scholar
490PA recurrent non-coding 3’UTR variant as a hidden second hit in 11 families with CAPN3-related limb girdle muscular dystrophy
Cited by 1
Semantic Scholar
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps OA
Cited by 2
Semantic Scholar
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Cited by 1
Semantic Scholar
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy
Cited by 0
Semantic Scholar
Research Topics
Muscle Physiology and Disorders
(48)
Cardiomyopathy and Myosin Studies
(20)
Neurogenetic and Muscular Disorders Research
(18)
RNA Research and Splicing
(16)
Nuclear Structure and Function
(12)
Affiliations
Universitat Autònoma de Barcelona
Instituto de Salud Carlos III
Hospital de Sant Pau
Biogipuzkoa Health Research Institute
Centre for Biomedical Network Research on Rare Diseases