Literature DB >> 16331355

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy.

Elena Cardaioli, Gian Nicola Gallus, Paola Da Pozzo, Alessandra Rufa, Rossella Franceschini, Eduardo Motolese, Aldo Caporossi, Maria T Dotti, Antonio Federico.   

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Year:  2005        PMID： 16331355     DOI： 10.1007/s00415-005-0057-z

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  11 in total

1.  The OPA1 gene and optic neuropathy.

Authors:  W L M Alward
Journal:  Br J Ophthalmol       Date:  2003-01       Impact factor: 4.638

2.  OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

Authors:  U E Pesch; B Leo-Kottler; S Mayer; B Jurklies; U Kellner; E Apfelstedt-Sylla; E Zrenner; C Alexander; B Wissinger
Journal:  Hum Mol Genet       Date:  2001-06-15       Impact factor: 6.150

3.  Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.

Authors:  M Votruba; D Thiselton; S S Bhattacharya
Journal:  Br J Ophthalmol       Date:  2003-01       Impact factor: 4.638

4.  A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

Authors:  Dawn L Thiselton; Christiane Alexander; Jan-Willem Taanman; Simon Brooks; Thomas Rosenberg; Hans Eiberg; Sten Andreasson; Nicole Van Regemorter; Francis L Munier; Anthony T Moore; Shomi S Bhattacharya; Marcela Votruba
Journal:  Invest Ophthalmol Vis Sci       Date:  2002-06       Impact factor: 4.799

5.  Mutation spectrum and splicing variants in the OPA1 gene.

Authors:  C Delettre; J M Griffoin; J Kaplan; H Dollfus; B Lorenz; L Faivre; G Lenaers; P Belenguer; C P Hamel
Journal:  Hum Genet       Date:  2001-10-30       Impact factor: 4.132

6.  Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy.

Authors:  M Votruba; F W Fitzke; G E Holder; A Carter; S S Bhattacharya; A T Moore
Journal:  Arch Ophthalmol       Date:  1998-03

Review 7.  OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

Authors:  Cécile Delettre; Guy Lenaers; Laeticia Pelloquin; Pascale Belenguer; Christian P Hamel
Journal:  Mol Genet Metab       Date:  2002-02       Impact factor: 4.797

8.  Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

Authors:  Olivier Baris; Cécile Delettre; Patrizia Amati-Bonneau; Marie-Odile Surget; Jean-François Charlin; Antoine Catier; Laurence Derieux; Jean-Laurent Guyomard; Hélène Dollfus; Philippe Jonveaux; Carmen Ayuso; Irene Maumenee; Birgit Lorenz; Shehla Mohammed; Yves Tourmen; Dominique Bonneau; Yves Malthièry; Christian Hamel; Pascal Reynier
Journal:  Hum Mutat       Date:  2003-06       Impact factor: 4.878

9.  A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1.

Authors:  Satoko Shimizu; Naoki Mori; Mari Kishi; Hirohisa Sugata; Akiko Tsuda; Nobue Kubota
Journal:  Jpn J Ophthalmol       Date:  2002 May-Jun       Impact factor: 2.447

10.  Cell response to oxidative stress induced apoptosis in patients with Leber's hereditary optic neuropathy.

Authors:  C Battisti; P Formichi; E Cardaioli; S Bianchi; P Mangiavacchi; S A Tripodi; P Tosi; A Federico
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-12       Impact factor: 10.154
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  1 in total

1.  A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.

Authors:  Maria Liguori; Antonella La Russa; Ida Manna; Virginia Andreoli; Manuela Caracciolo; Patrizia Spadafora; Rita Cittadella; Aldo Quattrone
Journal:  J Neurol       Date:  2008-01-22       Impact factor: 4.849
  1 in total

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