Literature DB >> 25012220

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

Dominique Bonneau1, Estelle Colin2, Florine Oca2, Marc Ferré2, Arnaud Chevrollier2, Naïg Guéguen2, Valérie Desquiret-Dumas2, Sylvie N'Guyen3, Magalie Barth2, Xavier Zanlonghi4, Marlène Rio5, Isabelle Desguerre6, Christine Barnerias6, Marta Momtchilova7, Diana Rodriguez8, Abdelhamid Slama9, Guy Lenaers10, Vincent Procaccio2, Patrizia Amati-Bonneau2, Pascal Reynier2.   

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Year:  2014        PMID： 25012220     DOI： 10.1093/brain/awu184

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


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  30 in total

1.  Metabolic stroke in a patient with bi-allelic OPA1 mutations.

Authors:  Ayelet Zerem; Keren Yosovich; Yael Cohen Rappaport; Stephanie Libzon; Lubov Blumkin; Liat Ben-Sira; Dorit Lev; Tally Lerman-Sagie
Journal:  Metab Brain Dis       Date:  2019-04-10       Impact factor: 3.584

2.  Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

Authors:  J L Loo; S Singhal; A V Rukmini; S Tow; P Amati-Bonneau; V Procaccio; D Bonneau; J J Gooley; P Reynier; M Ferré; D Milea
Journal:  Eye (Lond)       Date:  2016-11-18       Impact factor: 3.775

3.  Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells.

Authors:  Jin Zheng; Deborah L Croteau; Vilhelm A Bohr; Mansour Akbari
Journal:  Nucleic Acids Res       Date:  2019-05-07       Impact factor: 16.971

Review 4.  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

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

Authors:  Patrick Yu-Wai-Man; Patrick F Chinnery
Journal:  Brain       Date:  2014-08-21       Impact factor: 13.501

Review 6.  Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

Authors:  Jinho Lee; Sung-Chul Jung; Young Bin Hong; Jeong Hyun Yoo; Heasoo Koo; Ja Hyun Lee; Hyun Dae Hong; Sang-Beom Kim; Ki Wha Chung; Byung-Ok Choi
Journal:  Mol Med Rep       Date:  2016-05-04       Impact factor: 2.952

Review 7.  A neurodegenerative perspective on mitochondrial optic neuropathies.

Authors:  Patrick Yu-Wai-Man; Marcela Votruba; Florence Burté; Chiara La Morgia; Piero Barboni; Valerio Carelli
Journal:  Acta Neuropathol       Date:  2016-09-30       Impact factor: 17.088

8.  First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant.

Authors:  Svenja Alter; Navid Farassat; Sebastian Küchlin; Wolf A Lagrèze; Judith Fischer
Journal:  Genes (Basel)       Date:  2022-03-08       Impact factor: 4.096

9.  Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

Authors:  Patrick Yu-Wai-Man; Patrick F Chinnery
Journal:  Brain       Date:  2014-07-10       Impact factor: 13.501

10.  Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

Authors:  Ronen Spiegel; Ann Saada; Padraig J Flannery; Florence Burté; Devorah Soiferman; Morad Khayat; Verónica Eisner; Eugene Vladovski; Robert W Taylor; Laurence A Bindoff; Avraham Shaag; Hanna Mandel; Ora Schuler-Furman; Stavit A Shalev; Orly Elpeleg; Patrick Yu-Wai-Man
Journal:  J Med Genet       Date:  2015-11-11       Impact factor: 6.318
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