Carmen Ayuso

TL;DR: In this paper, mutations in the OPA1 gene can also be responsible for a syndromic form of DOA associated with sensorineural deafness, ataxia, axonal sensory-motor polyneuropathy, chronic progressive external ophthalmoplegia and mitochondrial myopathy.

TL;DR: Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region of human chromosome 1q41 that has laminin epidermal growth factor and fibronectin type III motifs.

TL;DR: Several lines of evidence for the existence of a 17q24 locus underlying Pierre Robin sequence are reported, including linkage analysis results, a clustering of translocation breakpoints, and a heterozygous point mutation in an evolutionarily conserved region of DNA with in vitro and in vivo features of a developmental enhancer.

TL;DR: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat, and the rate of HD pathogenesis leading to motor diagnosis is determined by a completely dominant action of the longest expanded allele and as yet unidentified genetic or environmental factors.