Francisco Javier Cotrina‐Vinagre

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation

Elena Martín‐Hernández, María Elena Rodríguez‐García, Chun‐An Chen et al. · Journal of Human Genetics · 2018 · 29 citations

Life Sciences, Genetics, Molecular Genetics +16

<i>MLIP</i> causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase

Osório Lopes Abath Neto, Līvija Medne, Sandra Donkervoort et al. · Brain · 2021 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

María Elena Rodríguez‐García, Francisco Javier Cotrina‐Vinagre, Marcello Bellusci et al. · European Journal of Human Genetics · 2019 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem

María Elena Rodríguez‐García, Francisco Javier Cotrina‐Vinagre, Elena Arranz-Canales et al. · Journal of Genetics · 2020 · 17 citations

Life Sciences, Genetics, Molecular Genetics +10

A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in <i>SLC25A24</i>

María Elena Rodríguez‐García, Francisco Javier Cotrina‐Vinagre, Jaime Cruz‐Rojo et al. · American Journal of Medical Genetics Part A · 2018 · 16 citations

Life Sciences, Genetics, Molecular Genetics +17