Valério Carelli

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

Patrizia Amati‐Bonneau, Maria Lucia Valentino, Pascal Reynier et al. · Brain · 2007 · 515 citations · Full text

Life Sciences, Genetics, Neurology +17

Proteolytic Cleavage of Opa1 Stimulates Mitochondrial Inner Membrane Fusion and Couples Fusion to Oxidative Phosphorylation

Prashant Mishra, Valério Carelli, Giovanni Manfredi et al. · Cell Metabolism · 2014 · 474 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +11

The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool

Alessandro Achilli, Chiara Rengo, Chiara Magri et al. · The American Journal of Human Genetics · 2004 · 462 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Multi-system neurological disease is common in patients with OPA1 mutations

Patrick Yu‐Wai‐Man, Philip G. Griffiths, Gráinne S. Gorman et al. · Brain · 2010 · 447 citations · Full text

Medicine, Genetics, Neurology +16

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