Carlos Ignacio Ortez González
Hospital Sant Joan de Déu Barcelona
82 papers found
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A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy
Download from doi.orgInnovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy
Download from doi.orgCharacterization of cardiac involvement in children with LMNA-related muscular dystrophy
Download from doi.orgVariants in DTNA cause a mild, dominantly inherited muscular dystrophy
Download from link.springer.comCommon pathophysiology for ANXA11 disorders caused by aspartate 40 variants
Download from onlinelibrary.wiley.comMitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases
Download from doi.orgCopper Toxicity Associated With an ATP7A-Related Complex Phenotype
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