Carla Carducci

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

Antonio Torroni, M. Petrozzi, Leila D'Urbano et al. · PubMed · 1997 · 417 citations

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 339 citations · Full text

Genetic Landscape, Genetic Disorder, Medicine +6

Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees

Valério Carelli, Alessandro Achilli, Maria Lucia Valentino et al. · The American Journal of Human Genetics · 2006 · 182 citations · Full text

Biology, Neurodegenerative Diseases, Novel Clues +12

Biochemical features of mtDNA 14484 (ND6/m64V) point mutation associated with Leber's hereditary optic neuropathy

Valério Carelli, Anna Ghelli, Laura Bucchi et al. · Annals of Neurology · 1999 · 135 citations

Genetics, Molecular Biology, Molecular Genetics +20

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

Roberta Battini, Vincenzo Leuzzi, Carla Carducci et al. · Molecular Genetics and Metabolism · 2002 · 102 citations

Nutrition, Creatine Depletion, Agat Deficiency +7