Patrizia Amati‐Bonneau

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

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 · 437 citations · Full text

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance

Gavin Hudson, Patrizia Amati‐Bonneau, Emma L. Blakely et al. · Brain · 2007 · 416 citations · Full text

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel, Virginie Laurier, Erica E. Davis et al. · Nature Genetics · 2006 · 284 citations

Protein Function, Vertebrate-specific Chaperonin-like Protein, Protein Folding +9

<i>MEF2C</i> haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard et al. · Journal of Medical Genetics · 2009 · 220 citations · Full text