Francisco Javier Cotrina Vinagre

Francisco Javier Cotrina Vinagre

Hospital Universitario 12 de Octubre - Madrid / Spain
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AD Scientific Index ID: 5955345
October 12 University Hospital
person_outline Francisco Javier Cotrina Vinagre's MOST POPULAR ARTICLES
1-) Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation Journal of Human Genetics 63 (4), 525-528, 2018
2-) NFATc3 controls tumour growth by regulating proliferation and migration of human astroglioma cells Scientific Reports 9 (1), 9361, 2019
3-) MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase Brain 144 (9), 2722-2731, 2021
4-) A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome European Journal of Human Genetics 27 (9), 1369-1378, 2019
5-) A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24 American Journal of Medical Genetics Part A 176 (11), 2479-2486, 2018