Literature DB >> 25146916

'Behr syndrome' with OPA1 compound heterozygote mutations.

Valerio Carelli1, Mario Sabatelli2, Rosalba Carrozzo3, Teresa Rizza3, Simone Schimpf4, Bernd Wissinger4, Claudia Zanna5, Michela Rugolo6, Chiara La Morgia7, Leonardo Caporali8, Michele Carbonelli9, Piero Barboni9, Caterina Tonon10, Raffaele Lodi10, Enrico Bertini11.   

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Year:  2014        PMID： 25146916      PMCID： PMC4441076          DOI： 10.1093/brain/awu234

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


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  11 in total

1.  Heterozygous OPA1 mutations in Behr syndrome.

Authors:  Cecilia Marelli; Patrizia Amati-Bonneau; Pascal Reynier; Valérie Layet; Antoine Layet; Giovanni Stevanin; Etienne Brissaud; Dominique Bonneau; Alexandra Durr; Alexis Brice
Journal:  Brain       Date:  2010-11-26       Impact factor: 13.501

2.  Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.

Authors:  Y Anikster; R Kleta; A Shaag; W A Gahl; O Elpeleg
Journal:  Am J Hum Genet       Date:  2001-10-19       Impact factor: 11.025

3.  OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.

Authors:  Claudia Zanna; Anna Ghelli; Anna Maria Porcelli; Mariusz Karbowski; Richard J Youle; Simone Schimpf; Bernd Wissinger; Marcello Pinti; Andrea Cossarizza; Sara Vidoni; Maria Lucia Valentino; Michela Rugolo; Valerio Carelli
Journal:  Brain       Date:  2008-02       Impact factor: 13.501

4.  MFN2, a new gene responsible for mitochondrial DNA depletion.

Authors:  Florence Renaldo; Patrizia Amati-Bonneau; Abdelhamid Slama; Claudia Romana; Veronique Forin; Diane Doummar; Christine Barnerias; Joseph Bursztyn; Michèle Mayer; Nejib Khouri; Thierry Billette de Villemeur; Lydie Burglen; Pascal Reynier; Antoinette Bernabe Gelot; Diana Rodriguez
Journal:  Brain       Date:  2012-05-03       Impact factor: 13.501

5.  Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

Authors:  Christian P Schaaf; Maria Blazo; Richard Alan Lewis; Ross E Tonini; Hidehiro Takei; Jing Wang; Lee-Jun Wong; Fernando Scaglia
Journal:  Mol Genet Metab       Date:  2011-05-07       Impact factor: 4.797

6.  A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia.

Authors:  H Costeff; N Gadoth; N Apter; M Prialnic; H Savir
Journal:  Neurology       Date:  1989-04       Impact factor: 9.910

7.  Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation.

Authors:  Elena Pretegiani; Alessandra Rufa; Gian Nicola Gallus; Elena Cardaioli; Alessandro Malandrini; Antonio Federico
Journal:  Brain       Date:  2011-06-06       Impact factor: 13.501

8.  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

9.  OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

Authors:  Patrizia Amati-Bonneau; Maria Lucia Valentino; Pascal Reynier; Maria Esther Gallardo; Belén Bornstein; Anne Boissière; Yolanda Campos; Henry Rivera; Jesús González de la Aleja; Rosanna Carroccia; Luisa Iommarini; Pierre Labauge; Dominique Figarella-Branger; Pascale Marcorelles; Alain Furby; Katell Beauvais; Franck Letournel; Rocco Liguori; Chiara La Morgia; Pasquale Montagna; Maria Liguori; Claudia Zanna; Michela Rugolo; Andrea Cossarizza; Bernd Wissinger; Christophe Verny; Robert Schwarzenbacher; Miguel Angel Martín; Joaquín Arenas; Carmen Ayuso; Rafael Garesse; Guy Lenaers; Dominique Bonneau; Valerio Carelli
Journal:  Brain       Date:  2007-12-24       Impact factor: 13.501

10.  Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.

Authors:  Tobias Bonifert; Kathrin N Karle; Felix Tonagel; Marion Batra; Christian Wilhelm; Yvonne Theurer; Caroline Schoenfeld; Torsten Kluba; York Kamenisch; Valerio Carelli; Julia Wolf; Michael A Gonzalez; Fiorella Speziani; Rebecca Schüle; Stephan Züchner; Ludger Schöls; Bernd Wissinger; Matthis Synofzik
Journal:  Brain       Date:  2014-06-25       Impact factor: 13.501
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  24 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.  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

3.  Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.

Authors:  Xingyu Xu; Panfeng Wang; Xiaoyun Jia; Wenmin Sun; Shiqiang Li; Xueshan Xiao; J Fielding Hejtmancik; Qingjiong Zhang
Journal:  Mol Genet Genomics       Date:  2021-04-21       Impact factor: 3.291

Review 4.  Mitochondrial Membranes and Mitochondrial Genome: Interactions and Clinical Syndromes.

Authors:  Mohammed Almannai; Azza Salah; Ayman W El-Hattab
Journal:  Membranes (Basel)       Date:  2022-06-15

Review 5.  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

6.  Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

Authors:  Eunju Seong; Ryan Insolera; Marija Dulovic; Erik-Jan Kamsteeg; Joanne Trinh; Norbert Brüggemann; Erin Sandford; Sheng Li; Ayse Bilge Ozel; Jun Z Li; Tamison Jewett; Anneke J A Kievit; Alexander Münchau; Vikram Shakkottai; Christine Klein; Catherine A Collins; Katja Lohmann; Bart P van de Warrenburg; Margit Burmeister
Journal:  Ann Neurol       Date:  2018-06-30       Impact factor: 10.422

7.  High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts.

Authors:  Emma Cretin; Priscilla Lopes; Elodie Vimont; Takashi Tatsuta; Thomas Langer; Anastasia Gazi; Martin Sachse; Patrick Yu-Wai-Man; Pascal Reynier; Timothy Wai
Journal:  EMBO Mol Med       Date:  2021-05-20       Impact factor: 12.137

8.  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 9.  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

10.  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
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