Carmen Ayuso

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

Patrizia Amati‐Bonneau, Maria Lucia Valentino, Pascal Reynier et al. · Brain · 2007 · 510 citations · Full text

Opa1 Gene, Genome Instability, Mitochondrial Biogenesis +15

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Sabina Benko, Judy Fantes, Jeanne Amiel et al. · Nature Genetics · 2009 · 433 citations

Sequence Motif, Comparative Genomics, Genetics +10

Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

James D. Eudy, Michael D. Weston, Su-Fang Yao et al. · Science · 1998 · 391 citations

Molecular Physiology, Developmental Biology, Markers Afm268zd1 +14

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

J.-M. Lee, E.M. Ramos, J.-H. Lee et al. · Neurology · 2012 · 384 citations · Full text

Characterization of Inflammation and Fibrosis in Crohn’s Disease Lesions by Magnetic Resonance Imaging

Jordi Rimola, Núria Planell, Sónia Rodríguez et al. · The American Journal of Gastroenterology · 2015 · 260 citations