María Jesús Sobrido
Instituto de Investigación Biomédica de A Coruña(ES)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Genomics and Rare Diseases, Biomedical Text Mining and Ontologies, Parkinson's Disease Mechanisms and Treatments
Most-Cited Works
- → Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice(2013)326 cited
- → A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia(2017)148 cited
- → ‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization(2012)93 cited
- → mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations(2003)48 cited
- → Neurophysiological study in cerebrotendinous xanthomatosis(2011)34 cited
- → Prevalence of spinocerebellar ataxia 36 in a US population(2017)25 cited
- → Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect(2020)25 cited
- → Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations(2018)24 cited
- → Brain calcifications and PCDH12 variants(2017)19 cited
- → Zebrafish Models of Autosomal Dominant Ataxias(2021)15 cited