Vincenzo Leuzzi

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

Life Sciences, Genetics, Molecular Genetics +13

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 380 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Michèl A.A.P. Willemsen, Marcel M. Verbeek, Erik‐Jan Kamsteeg et al. · Brain · 2010 · 234 citations · Full text

Medicine, Neurology, Neuroscience +14

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortüm, Viviana Caputo, Christiane K. Bauer et al. · Nature Genetics · 2015 · 218 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

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

Medicine, Genetics, Molecular Genetics +17