Ana Sánchez‐Monteagudo
Centro de Investigacion Principe Felipe(ES)
Publications by Year
Research Areas
Trace Elements in Health, Heavy Metal Exposure and Toxicity, Iron Metabolism and Disorders, Hereditary Neurological Disorders, Neurological diseases and metabolism
Most-Cited Works
- → Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation(2020)67 cited
- → Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease(2021)40 cited
- → A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation(2017)34 cited
- → Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity(2020)30 cited
- → Genetics of Wilson disease and Wilson‐like phenotype in a clinical series from eastern Spain(2020)29 cited
- → Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations(2018)24 cited
- → Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension(2017)23 cited
- → NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism(2021)20 cited
- → Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration(2021)17 cited
- → Clinical spectrum of BICD2 mutations(2020)15 cited