Literature DB >> 30143805

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Neringa Jurkute1, Anna Majander2, Richard Bowman3, Marcela Votruba4, Stephen Abbs5, James Acheson6, Guy Lenaers7, Patrizia Amati-Bonneau7,8, Mariya Moosajee3,6,9, Gavin Arno6,9, Patrick Yu-Wai-Man10,11,12,13.   

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Year:  2018        PMID： 30143805      PMCID： PMC6460557          DOI： 10.1038/s41431-018-0235-y

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  34 in total

1.  Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.

Authors:  Helen E White; Victoria J Durston; Anneke Seller; Carl Fratter; John F Harvey; Nicholas C P Cross
Journal:  Genet Test       Date:  2005

2.  Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations.

Authors:  Giacomo Savini; Piero Barboni; Maria Lucia Valentino; Pasquale Montagna; Pietro Cortelli; Anna Maria De Negri; Federico Sadun; Stefania Bianchi; Lora Longanesi; Maurizio Zanini; Valerio Carelli
Journal:  Ophthalmology       Date:  2005-01       Impact factor: 12.079

3.  SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I.

Authors:  Xiaoping Qi; Alfred S Lewin; Liang Sun; William W Hauswirth; John Guy
Journal:  Ann Neurol       Date:  2004-08       Impact factor: 10.422

4.  Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Authors:  Marc Ferré; Dominique Bonneau; Dan Milea; Arnaud Chevrollier; Christophe Verny; Hélène Dollfus; Carmen Ayuso; Sabine Defoort; Catherine Vignal; Xavier Zanlonghi; Jean-Francois Charlin; Josseline Kaplan; Sylvie Odent; Christian P Hamel; Vincent Procaccio; Pascal Reynier; Patrizia Amati-Bonneau
Journal:  Hum Mutat       Date:  2009-07       Impact factor: 4.878

5.  Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction.

Authors:  Sami Ellouze; Sébastien Augustin; Aicha Bouaita; Crystel Bonnet; Manuel Simonutti; Valérie Forster; Serge Picaud; Jose-Alain Sahel; Marisol Corral-Debrinski
Journal:  Am J Hum Genet       Date:  2008-09-04       Impact factor: 11.025

6.  Quality of life in patients with leber hereditary optic neuropathy.

Authors:  Matthew Anthony Kirkman; Alex Korsten; Miriam Leonhardt; Konstantin Dimitriadis; Ireneaus F De Coo; Thomas Klopstock; Philip G Griffiths; Gavin Hudson; Patrick F Chinnery; Patrick Yu-Wai-Man
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-02-28       Impact factor: 4.799

7.  Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography.

Authors:  Piero Barboni; Michele Carbonelli; Giacomo Savini; Carolina do V F Ramos; Arturo Carta; Adriana Berezovsky; Solange R Salomao; Valerio Carelli; Alfredo A Sadun
Journal:  Ophthalmology       Date:  2010-01-19       Impact factor: 12.079

8.  Pathogenic mitochondrial DNA mutations are common in the general population.

Authors:  Hannah R Elliott; David C Samuels; James A Eden; Caroline L Relton; Patrick F Chinnery
Journal:  Am J Hum Genet       Date:  2008-08       Impact factor: 11.025

9.  The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.

Authors:  Patrick Yu-Wai-Man; Philip G Griffiths; Ailbhe Burke; Peter W Sellar; Michael P Clarke; Lawrence Gnanaraj; Desiree Ah-Kine; Gavin Hudson; Birgit Czermin; Robert W Taylor; Rita Horvath; Patrick F Chinnery
Journal:  Ophthalmology       Date:  2010-04-24       Impact factor: 12.079
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  10 in total

1.  Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.

Authors:  Xiao-Huan Zou; Xin-Xin Guo; Hui-Zhen Su; Chong Wang; En-Lin Dong; Ning Wang; Wan-Jin Chen; Qi-Jie Zhang
Journal:  J Mol Neurosci       Date:  2019-05-10       Impact factor: 3.444

2.  Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction.

Authors:  Joshua Paul Harvey; Patrick Yu-Wai-Man; Michael Edward Cheetham
Journal:  Eur J Hum Genet       Date:  2022-05-09       Impact factor: 5.351

Review 3.  Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.

Authors:  Michele Bertacchi; Chiara Tocco; Christian P Schaaf; Michèle Studer
Journal:  Cells       Date:  2022-04-08       Impact factor: 7.666

4.  SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

Authors:  Neringa Jurkute; Costin Leu; Hans-Martin Pogoda; Gavin Arno; Anthony G Robson; Gudrun Nürnberg; Janine Altmüller; Holger Thiele; Susanne Motameny; Mohammad Reza Toliat; Kate Powell; Wolfgang Höhne; Michel Michaelides; Andrew R Webster; Anthony T Moore; Matthias Hammerschmidt; Peter Nürnberg; Patrick Yu-Wai-Man; Marcela Votruba
Journal:  Ann Neurol       Date:  2019-07-31       Impact factor: 11.274

5.  An evaluation of genetic causes and environmental risks for bilateral optic atrophy.

Authors:  Andrew T Chen; Lauren Brady; Dennis E Bulman; Arun N E Sundaram; Amadeo R Rodriguez; Edward Margolin; John S Waye; Mark A Tarnopolsky
Journal:  PLoS One       Date:  2019-11-25       Impact factor: 3.240

6.  A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review.

Authors:  Rasa Liutkeviciene; Agne Sidaraite; Lina Kuliaviene; Brigita Glebauskiene; Neringa Jurkute; Lina Aluzaite-Baranauskiene; Arvydas Gelzinis; Reda Zemaitiene
Journal:  Medicina (Kaunas)       Date:  2021-02-26       Impact factor: 2.430

Review 7.  Advancing precision medicines for ocular disorders: Diagnostic genomics to tailored therapies.

Authors:  Priyalakshmi Panikker; Shomereeta Roy; Anuprita Ghosh; B Poornachandra; Arkasubhra Ghosh
Journal:  Front Med (Lausanne)       Date:  2022-07-15

8.  Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy.

Authors:  Majida Charif; Arnaud Chevrollier; Naïg Gueguen; Selma Kane; Céline Bris; David Goudenège; Valerie Desquiret-Dumas; Isabelle Meunier; Fanny Mochel; Luc Jeanjean; Fanny Varenne; Vincent Procaccio; Pascal Reynier; Dominique Bonneau; Patrizia Amati-Bonneau; Guy Lenaers
Journal:  Genes (Basel)       Date:  2022-07-05       Impact factor: 4.141

Review 9.  Retinal Ganglion Cells-Diversity of Cell Types and Clinical Relevance.

Authors:  Ungsoo Samuel Kim; Omar A Mahroo; John D Mollon; Patrick Yu-Wai-Man
Journal:  Front Neurol       Date:  2021-05-21       Impact factor: 4.003

10.  Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan.

Authors:  Chao-Wen Lin; Ching-Wen Huang; Allen Chilun Luo; Yuh-Tsyr Chou; Yu-Shu Huang; Pei-Lung Chen; Ta-Ching Chen
Journal:  Genes (Basel)       Date:  2021-08-31       Impact factor: 4.096
  10 in total

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