Literature DB >> 30838318

A Novel Missense OPA1 Mutation in a Patient with Dominant Optic Atrophy and Cervical Dystonia.

Gloria Ortega-Suero1, Marta Fernández-Matarrubia1, Eva López-Valdés2, Javier Arpa1.   

Abstract

Entities:  

Keywords:  OPA1, OPA1‐related disorders; cervical dystonia; optic atrophy 1 gene

Year:  2018        PMID： 30838318      PMCID： PMC6384180          DOI： 10.1002/mdc3.12699

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  8 in total

1.  A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation.

Authors:  Enrico Saracchi; J C Difrancesco; L Brighina; L Marzorati; N A Curtò; C Lamperti; F Carrara; M Zeviani; C Ferrarese
Journal:  Neurol Sci       Date:  2012-03-17       Impact factor: 3.307

Review 2.  Dominant optic atrophy.

Authors:  Guy Lenaers; Christian Hamel; Cécile Delettre; Patrizia Amati-Bonneau; Vincent Procaccio; Dominique Bonneau; Pascal Reynier; Dan Milea
Journal:  Orphanet J Rare Dis       Date:  2012-07-09       Impact factor: 4.123

3.  OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.

Authors:  Juan Manuel Chao de la Barca; Delphine Prunier-Mirebeau; Patrizia Amati-Bonneau; Marc Ferré; Emmanuelle Sarzi; Céline Bris; Stéphanie Leruez; Arnaud Chevrollier; Valérie Desquiret-Dumas; Naïg Gueguen; Christophe Verny; Christian Hamel; Dan Miléa; Vincent Procaccio; Dominique Bonneau; Guy Lenaers; Pascal Reynier
Journal:  Neurobiol Dis       Date:  2015-08-23       Impact factor: 5.996

4.  Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

Authors:  Koen L I van Gassen; Charlotte D C C van der Heijden; Susanne T de Bot; Wilfred F A den Dunnen; Leonard H van den Berg; Corien C Verschuuren-Bemelmans; H P H Kremer; Jan H Veldink; Erik-Jan Kamsteeg; Hans Scheffer; Bart P van de Warrenburg
Journal:  Brain       Date:  2012-09-10       Impact factor: 13.501

5.  A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.

Authors:  Rita Horvath; Elke Holinski-Feder; Vivienne C M Neeve; Angela Pyle; Helen Griffin; Deephthi Ashok; Charlotte Foley; Gavin Hudson; Bernd Rautenstrauss; Gudrun Nürnberg; Peter Nürnberg; Jörg Kortler; Birgit Neitzel; Ingelore Bässmann; Thahira Rahman; Bernard Keavney; John Loughlin; Sophie Hambleton; Benedikt Schoser; Hanns Lochmüller; Mauro Santibanez-Koref; Patrick F Chinnery
Journal:  Mov Disord       Date:  2012-04-16       Impact factor: 10.338

6.  Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Authors:  Chunyan Liao; Neil Ashley; Alan Diot; Karl Morten; Kanchan Phadwal; Andrew Williams; Ian Fearnley; Lyndon Rosser; Jo Lowndes; Carl Fratter; David J P Ferguson; Laura Vay; Gerardine Quaghebeur; Isabella Moroni; Stefania Bianchi; Costanza Lamperti; Susan M Downes; Kamil S Sitarz; Padraig J Flannery; Janet Carver; Eszter Dombi; Daniel East; Matilde Laura; Mary M Reilly; Heather Mortiboys; Remko Prevo; Michelangelo Campanella; Matthew J Daniels; Massimo Zeviani; Patrick Yu-Wai-Man; Anna Katharina Simon; Marcela Votruba; Joanna Poulton
Journal:  Neurology       Date:  2016-12-14       Impact factor: 9.910

7.  OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.

Authors:  Denis Pierron; Marc Ferré; Christophe Rocher; Arnaud Chevrollier; Pascal Murail; Didier Thoraval; Patrizia Amati-Bonneau; Pascal Reynier; Thierry Letellier
Journal:  BMC Med Genet       Date:  2009-07-20       Impact factor: 2.103

8.  Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

Authors:  Petra Liskova; Olga Ulmanova; Petr Tesina; Hana Melsova; Pavel Diblik; Hana Hansikova; Marketa Tesarova; Marcela Votruba
Journal:  Acta Ophthalmol       Date:  2013-02-07       Impact factor: 3.761
  8 in total

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