Eva Medico Salsench

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

Mohammed A. AlMuhaizea, Rawan Almass, Aljouhra AlHargan et al. · Acta Neuropathologica · 2020 · 26 citations · Full text

Life Sciences, Genetics, Neurology +12

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Ruizhi Deng, Eva Medico Salsench, Anita Nikoncuk et al. · Acta Neuropathologica · 2023 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma

Wojtek Drabarek, Job van Riet, Josephine Q.N. Nguyen et al. · Cancers · 2022 · 20 citations · Full text

Medicine, Genetics, Oncology +17