Jana Domínguez‐Carral

Retrospective natural history of thymidine kinase 2 deficiency

Caterina Garone, Robert W. Taylor, A. Nascimento et al. · Journal of Medical Genetics · 2018 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular characterization of congenital myasthenic syndromes in Spain

Daniel Natera‐de Benito, Ana Töpf, Juan J. Vílchez et al. · Neuromuscular Disorders · 2017 · 80 citations

Life Sciences, Genetics, Molecular Genetics +14

Epilepsy in <i>LAMA2</i>‐related muscular dystrophy: An electro‐clinico‐radiological characterization

Daniel Natera‐de Benito, Jordi Muchart, D. Itzep et al. · Epilepsia · 2020 · 41 citations

Medicine, Neurology, Epilepsy +15

Severity of <i>GNAO1</i>‐Related Disorder Correlates with Changes in G‐Protein Function

Jana Domínguez‐Carral, W.H. Ludlam, Mar Junyent Segarra et al. · Annals of Neurology · 2023 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up

Daniel Natera‐de Benito, Jana Domínguez‐Carral, Nuria Muelas et al. · Neuromuscular Disorders · 2016 · 22 citations

Life Sciences, Genetics, Molecular Genetics +7