Tomàs Pinós

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

Alfredo Santalla, Gisela Nogales‐Gadea, Alberto Blázquez et al. · BMC Genomics · 2017 · 69 citations · Full text

Life Sciences, Genetics, Neurology +17

Evidence That Fibulin Family Members Contribute to the Steroid-dependent Extravascular Sequestration of Sex Hormone-binding Globulin

Kwong-Man Ng, Maria Graziella Catalano, Tomàs Pinós et al. · Journal of Biological Chemistry · 2006 · 62 citations · Full text

Life Sciences, Biochemistry, Endocrinology +17

Influence of Mitochondrial Genetics on the Mitochondrial Toxicity of Linezolid in Blood Cells and Skin Nerve Fibers

Glòria Garrabou, Àlex Soriano, Tomàs Pinós et al. · Antimicrobial Agents and Chemotherapy · 2017 · 55 citations · Full text

Life Sciences, Genetics, Pharmacology +17

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease

Gisela Nogales‐Gadea, Tomàs Pinós, Alejandro Lucía et al. · Brain · 2012 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

R. Scalco, Alejandro Lucía, Alfredo Santalla et al. · Orphanet Journal of Rare Diseases · 2020 · 41 citations · Full text

Medicine, Clinical Sciences, Medical Genetics +11