Mauro Scarpelli

Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation

Michelangelo Mancuso, Daniele Orsucci, C. Angelini et al. · Neurology · 2013 · 170 citations

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Michelangelo Mancuso, Daniele Orsucci, C. Angelini et al. · Journal of Neurology · 2013 · 140 citations

Biology, Mendelian Disorder, Genetic Disorder +5

Redefining phenotypes associated with mitochondrial DNA single deletion

Michelangelo Mancuso, Daniele Orsucci, C. Angelini et al. · Journal of Neurology · 2015 · 100 citations

Biology, Mitochondrial Function, Natural Sciences +4

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome

Yolanda Cámara, Emiliano González‐Vioque, Mauro Scarpelli et al. · Human Molecular Genetics · 2013 · 78 citations · Full text

Genome Instability, Pharmacological Approach, Biochemistry +14

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement

Bridget E. Bax, Murray Bain, Mauro Scarpelli et al. · Neurology · 2013 · 77 citations · Full text

Cell Therapy, Immunology, Pathology +19