Literature DB >> 15617556

Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1.

P Amati-Bonneau, L Pasquier, E Lainey, M Ferré, S Odent, Y Malthièry, D Bonneau, P Reynier.   

Abstract

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Year:  2005        PMID： 15617556     DOI： 10.1111/j.1399-0004.2004.00358.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.

Authors:  Simone Schimpf; Simone Schaich; Bernd Wissinger
Journal:  Hum Genet       Date:  2005-12-02       Impact factor: 4.132

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

Authors:  P Yu-Wai-Man; P G Griffiths; G S Gorman; C M Lourenco; A F Wright; M Auer-Grumbach; A Toscano; O Musumeci; M L Valentino; L Caporali; C Lamperti; C M Tallaksen; P Duffey; J Miller; R G Whittaker; M R Baker; M J Jackson; M P Clarke; B Dhillon; B Czermin; J D Stewart; G Hudson; P Reynier; D Bonneau; W Marques; G Lenaers; R McFarland; R W Taylor; D M Turnbull; M Votruba; M Zeviani; V Carelli; L A Bindoff; R Horvath; P Amati-Bonneau; P F Chinnery
Journal:  Brain       Date:  2010-02-15       Impact factor: 13.501

3.  Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry.

Authors:  Massimo Cesareo; Elena Ciuffoletti; Alessio Martucci; Jacopo Sebastiani; Roberto Pietro Sorge; Eleonora Lamantea; Barbara Garavaglia; Federico Ricci; Andrea Cusumano; Carlo Nucci; Francesco Brancati
Journal:  PLoS One       Date:  2017-03-30       Impact factor: 3.240
  3 in total

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