Literature DB >> 28175988

Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings.

Lucia Ruggiero1, Chiara Fiorillo2, Claudia Nesti3, Fiore Manganelli4, Rosa Iodice4, Marcello Esposito4, Filippo Maria Santorelli3, Lucio Santoro4.   

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Year:  2017        PMID： 28175988     DOI： 10.1007/s00415-017-8409-z

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  14 in total

1.  Deleted 4977-bp mitochondrial DNA mutation is associated with sporadic amyotrophic lateral sclerosis: a hospital-based case-control study.

Authors:  Long-Sun Ro; Shiao-Lin Lai; Chiung-Mei Chen; Sien-Tsong Chen
Journal:  Muscle Nerve       Date:  2003-12       Impact factor: 3.217

2.  Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

Authors:  C T Moraes; S DiMauro; M Zeviani; A Lombes; S Shanske; A F Miranda; H Nakase; E Bonilla; L C Werneck; S Servidei
Journal:  N Engl J Med       Date:  1989-05-18       Impact factor: 91.245

3.  ALS spinal neurons show varied and reduced mtDNA gene copy numbers and increased mtDNA gene deletions.

Authors:  Paula M Keeney; James P Bennett
Journal:  Mol Neurodegener       Date:  2010-05-26       Impact factor: 14.195

4.  Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion.

Authors:  Danhua Zhao; Zhaoxia Wang; Daojun Hong; Wei Zhang; Yun Yuan
Journal:  Clin Neurol Neurosurg       Date:  2012-12-23       Impact factor: 1.876

5.  Slowly progressing lower motor neuron disease caused by a novel duplication mutation in exon 1 of the SOD1 gene.

Authors:  Akinori Nakamura; Satoshi Kuru; Akiyo Hineno; Chinatsu Kobayashi; Tomomi Kinoshita; Daigo Miyazaki; Shu-ichi Ikeda
Journal:  Neurobiol Aging       Date:  2014-04-19       Impact factor: 4.673

Review 6.  What causes mitochondrial DNA deletions in human cells?

Authors:  Kim J Krishnan; Amy K Reeve; David C Samuels; Patrick F Chinnery; John K Blackwood; Robert W Taylor; Sjoerd Wanrooij; Johannes N Spelbrink; Robert N Lightowlers; Doug M Turnbull
Journal:  Nat Genet       Date:  2008-03       Impact factor: 38.330

7.  Redefining phenotypes associated with mitochondrial DNA single deletion.

Authors:  Michelangelo Mancuso; Daniele Orsucci; Corrado Angelini; Enrico Bertini; Valerio Carelli; Giacomo Pietro Comi; Maria Alice Donati; Antonio Federico; Carlo Minetti; Maurizio Moggio; Tiziana Mongini; Filippo Maria Santorelli; Serenella Servidei; Paola Tonin; Antonio Toscano; Claudio Bruno; Luca Bello; Elena Caldarazzo Ienco; Elena Cardaioli; Michela Catteruccia; Paola Da Pozzo; Massimiliano Filosto; Costanza Lamperti; Isabella Moroni; Olimpia Musumeci; Elena Pegoraro; Dario Ronchi; Donato Sauchelli; Mauro Scarpelli; Monica Sciacco; Maria Lucia Valentino; Liliana Vercelli; Massimo Zeviani; Gabriele Siciliano
Journal:  J Neurol       Date:  2015-03-26       Impact factor: 4.849

8.  "Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.

Authors:  Michelangelo Mancuso; Daniele Orsucci; Corrado Angelini; Enrico Bertini; Valerio Carelli; Giacomo Pietro Comi; Antonio Federico; Carlo Minetti; Maurizio Moggio; Tiziana Mongini; Paola Tonin; Antonio Toscano; Claudio Bruno; Elena Caldarazzo Ienco; Massimiliano Filosto; Costanza Lamperti; Daria Diodato; Isabella Moroni; Olimpia Musumeci; Elena Pegoraro; Marco Spinazzi; Naghia Ahmed; Monica Sciacco; Liliana Vercelli; Anna Ardissone; Massimo Zeviani; Gabriele Siciliano
Journal:  Neuromuscul Disord       Date:  2016-02-23       Impact factor: 4.296

9.  Defective mitochondrial dynamics is an early event in skeletal muscle of an amyotrophic lateral sclerosis mouse model.

Authors:  Guo Luo; Jianxun Yi; Changling Ma; Yajuan Xiao; Frank Yi; Tian Yu; Jingsong Zhou
Journal:  PLoS One       Date:  2013-12-06       Impact factor: 3.240

10.  Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Authors:  Alejandro Horga; Robert D S Pitceathly; Julian C Blake; Catherine E Woodward; Pedro Zapater; Carl Fratter; Ese E Mudanohwo; Gordon T Plant; Henry Houlden; Mary G Sweeney; Michael G Hanna; Mary M Reilly
Journal:  Brain       Date:  2014-10-03       Impact factor: 13.501
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