Caterina Garone

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman et al. · Science Translational Medicine · 2012 · 471 citations

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 285 citations · Full text

Chromatin, Genome Instability, Cause Coats +9

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

Caterina Garone, Saba Tadesse, Michio Hirano · Brain · 2011 · 210 citations · Full text

Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Tamar Harel, Wan Hee Yoon, Caterina Garone et al. · The American Journal of Human Genetics · 2016 · 186 citations · Full text

Distinct Neurological Syndromes, Neurodegenerative Diseases, Recurrent De Novo +10

NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs

Lindsey Van Haute, Song-Yi Lee, Beverly J. McCann et al. · Nucleic Acids Research · 2019 · 167 citations · Full text

Reductive Stress, Human Mitochondrial Dna, Mitochondrial Biogenesis +15