Sara Seneca
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, RNA modifications and cancer, ATP Synthase and ATPases Research, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis(2006)313 cited
- → Mutations in the X-linked pyruvate dehydrogenase (E1) ? subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency(2000)201 cited
- → Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12(2004)197 cited
- → Preimplantation diagnosis for Huntington's disease (HD): clinical application and analysis of the HD expansion in affected embryos(1998)145 cited
- → Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Tool in Diagnosis of Oxidative Phosphorylation Defects(2001)136 cited
- → Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert's disease)(1998)103 cited
- → Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene(1995)101 cited
- → CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy(2017)98 cited
- → Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency(2015)97 cited
- → Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities(1996)94 cited