Literature DB >> 21112924

Heterozygous OPA1 mutations in Behr syndrome.

Cecilia Marelli, Patrizia Amati-Bonneau, Pascal Reynier, Valérie Layet, Antoine Layet, Giovanni Stevanin, Etienne Brissaud, Dominique Bonneau, Alexandra Durr, Alexis Brice.   

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Year:  2010        PMID： 21112924     DOI： 10.1093/brain/awq306

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  18 in total

Review 1.  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

2.  Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy.

Authors:  M R Baker; K M Fisher; R G Whittaker; P G Griffiths; P Yu-Wai-Man; P F Chinnery
Journal:  Neurology       Date:  2011-09-14       Impact factor: 9.910

Review 3.  Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.

Authors:  Bayan Al Othman; Jia Ern Ong; Alina V Dumitrescu
Journal:  Genes (Basel)       Date:  2022-06-02       Impact factor: 4.141

4.  Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Authors:  Stephan Klebe; Christel Depienne; Sylvie Gerber; Georges Challe; Mathieu Anheim; Perrine Charles; Estelle Fedirko; Elodie Lejeune; Julien Cottineau; Alfredo Brusco; Hélène Dollfus; Patrick F Chinnery; Cecilia Mancini; Xavier Ferrer; Guilhem Sole; Alain Destée; Jean-Michel Mayer; Bertrand Fontaine; Jérôme de Seze; Michel Clanet; Elisabeth Ollagnon; Philippe Busson; Cécile Cazeneuve; Giovanni Stevanin; Josseline Kaplan; Jean-Michel Rozet; Alexis Brice; Alexandra Durr
Journal:  Brain       Date:  2012-10       Impact factor: 13.501

5.  'Behr syndrome' with OPA1 compound heterozygote mutations.

Authors:  Valerio Carelli; Mario Sabatelli; Rosalba Carrozzo; Teresa Rizza; Simone Schimpf; Bernd Wissinger; Claudia Zanna; Michela Rugolo; Chiara La Morgia; Leonardo Caporali; Michele Carbonelli; Piero Barboni; Caterina Tonon; Raffaele Lodi; Enrico Bertini
Journal:  Brain       Date:  2014-08-21       Impact factor: 13.501

Review 6.  Disturbed mitochondrial dynamics and neurodegenerative disorders.

Authors:  Florence Burté; Valerio Carelli; Patrick F Chinnery; Patrick Yu-Wai-Man
Journal:  Nat Rev Neurol       Date:  2014-12-09       Impact factor: 42.937

Review 7.  Mitochondrial quality control: from molecule to organelle.

Authors:  Alba Roca-Portoles; Stephen W G Tait
Journal:  Cell Mol Life Sci       Date:  2021-03-29       Impact factor: 9.261

Review 8.  The optic nerve: a "mito-window" on mitochondrial neurodegeneration.

Authors:  Alessandra Maresca; Chiara la Morgia; Leonardo Caporali; Maria Lucia Valentino; Valerio Carelli
Journal:  Mol Cell Neurosci       Date:  2012-08-15       Impact factor: 4.314

9.  Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.

Authors:  Angela Pyle; Venkateswaran Ramesh; Marina Bartsakoulia; Veronika Boczonadi; Aurora Gomez-Duran; Agnes Herczegfalvi; Emma L Blakely; Tania Smertenko; Jennifer Duff; Gail Eglon; David Moore; Patrick Yu-Wai-Man; Konstantinos Douroudis; Mauro Santibanez-Koref; Helen Griffin; Hanns Lochmüller; Veronika Karcagi; Robert W Taylor; Patrick F Chinnery; Rita Horvath
Journal:  J Neuromuscul Dis       Date:  2014

Review 10.  Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics.

Authors:  Marcel V Alavi; Nico Fuhrmann
Journal:  Mol Neurodegener       Date:  2013-09-25       Impact factor: 14.195
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