Loreto Martorell
Hospital Sant Joan de Déu Barcelona(ES)Instituto de Salud Carlos III(ES)Centre for Biomedical Network Research on Rare Diseases(ES)Sant Joan de Déu Research Foundation(ES)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations(2008)425 cited
- → Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder(2010)411 cited
- → Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6(2011)339 cited
- → Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity(2015)295 cited
- → Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling(2017)284 cited
- → RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation(2013)