Camilla Ceccatelli Berti

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

Charlotte L. Alston, Camilla Ceccatelli Berti, Emma L. Blakely et al. · Human Genetics · 2015 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel de novo dominant mutation in <i>ISCU</i> associated with mitochondrial myopathy

Andrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti et al. · Journal of Medical Genetics · 2017 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical, radiological, and genetic characteristics of 16 patients with <i>ACO2</i> gene defects: Delineation of an emerging neurometabolic syndrome

Rajech Sharkia, Klaas J. Wierenga, Amit Kessel et al. · Journal of Inherited Metabolic Disease · 2019 · 27 citations

Life Sciences, Genetics, Molecular Genetics +10

Deregulated intracellular pathways define novel molecular targets for HBV-specific CD8 T cell reconstitution in chronic hepatitis B

Ilaria Montali, Camilla Ceccatelli Berti, Marco Morselli et al. · Journal of Hepatology · 2023 · 27 citations · Full text

Life Sciences, Immunology, Molecular Biology +17

Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism

Camilla Ceccatelli Berti, Cristina Dallabona, Mirca Lazzaretti et al. · Microbial Cell · 2015 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17