Mara Doimo

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Saskia F. Heeringa, Gil Chernin, Moumita Chaki et al. · Journal of Clinical Investigation · 2011 · 400 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Genetics of Coenzyme Q10 Deficiency

Mara Doimo, María Andrea Desbats, Cristina Cerqua et al. · Molecular Syndromology · 2014 · 115 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Haploinsufficiency of <i>COQ4</i> causes coenzyme Q₁₀ deficiency

Leonardo Salviati, Eva Trevisson, María Hernández et al. · Journal of Medical Genetics · 2012 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Quinazoline Ligands Induce Cancer Cell Death through Selective STAT3 Inhibition and G-Quadruplex Stabilization

Ján Jamroškovič, Mara Doimo, Karam Chand et al. · Journal of the American Chemical Society · 2020 · 79 citations · Full text

Medicine, Molecular Biology, Oncology +17

Pontocerebellar hypoplasia type 6 caused by mutations in <i>RARS2</i>: definition of the clinical spectrum and molecular findings in five patients

Denise Cassandrini, Maria Roberta Cilio, Marzia Bianchi et al. · Journal of Inherited Metabolic Disease · 2012 · 78 citations

Life Sciences, Genetics, Molecular Genetics +9