Literature DB >> 21917770

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

M R Baker1, K M Fisher, R G Whittaker, P G Griffiths, P Yu-Wai-Man, P F Chinnery.   

Abstract

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Year:  2011        PMID： 21917770      PMCID： PMC3179647          DOI： 10.1212/WNL.0b013e318230a15a

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 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.  Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Authors:  Rita Horvath; Gavin Hudson; Gianfrancesco Ferrari; Nancy Fütterer; Sofia Ahola; Eleonora Lamantea; Holger Prokisch; Hanns Lochmüller; Robert McFarland; V Ramesh; Thomas Klopstock; Peter Freisinger; Fabrizio Salvi; Johannes A Mayr; Rene Santer; Marketa Tesarova; Jiri Zeman; Bjarne Udd; Robert W Taylor; Douglass Turnbull; Michael Hanna; Doreen Fialho; Anu Suomalainen; Massimo Zeviani; Patrick F Chinnery
Journal:  Brain       Date:  2006-04-18       Impact factor: 13.501

Review 3.  OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape.

Authors:  Massimo Zeviani
Journal:  Brain       Date:  2008-02       Impact factor: 13.501

Review 4.  Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Authors:  Patrick Yu-Wai-Man; Philip G Griffiths; Patrick F Chinnery
Journal:  Prog Retin Eye Res       Date:  2010-11-26       Impact factor: 21.198

5.  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

6.  Central motor conduction differs between acute relapsing-remitting and chronic progressive multiple sclerosis.

Authors:  A M Humm; M R Magistris; A Truffert; C W Hess; K M Rösler
Journal:  Clin Neurophysiol       Date:  2003-11       Impact factor: 3.708

7.  Mitochondrial defects in acute multiple sclerosis lesions.

Authors:  Don Mahad; Iryna Ziabreva; Hans Lassmann; Douglas Turnbull
Journal:  Brain       Date:  2008-05-30       Impact factor: 13.501
  7 in total
  8 in total

1.  Genetic variations within the OPA1 gene are not associated with neuromyelitis optica.

Authors:  Kamil S Sitarz; Patrick Yu-Wai-Man; Gavin Hudson; Anu Jacob; Mike Boggild; Rita Horvath; Patrick F Chinnery
Journal:  Mult Scler       Date:  2011-08-09       Impact factor: 6.312

Review 2.  The "mitochondrial stress responses": the "Dr. Jekyll and Mr. Hyde" of neuronal disorders.

Authors:  Simone Patergnani; Giampaolo Morciano; Marianna Carinci; Sara Leo; Paolo Pinton; Alessandro Rimessi
Journal:  Neural Regen Res       Date:  2022-12       Impact factor: 6.058

Review 3.  Genetic counseling in mitochondrial disease.

Authors:  Jodie M Vento; Belen Pappa
Journal:  Neurotherapeutics       Date:  2013-04       Impact factor: 7.620

4.  PLP1 mutations and central demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers.

Authors:  Michael J Keogh; Stephan R Jaiser; Hannah E Steele; Rita Horvath; Patrick F Chinnery; Mark R Baker
Journal:  Neurol Clin Pract       Date:  2017-10

5.  Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies.

Authors:  D N Manners; G Rizzo; C La Morgia; C Tonon; C Testa; P Barboni; E Malucelli; M L Valentino; L Caporali; D Strobbe; V Carelli; R Lodi
Journal:  AJNR Am J Neuroradiol       Date:  2015-03-19       Impact factor: 3.825

6.  The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.

Authors:  Grant Guthrie; Gerald Pfeffer; Maura Bailie; Karen Bradshaw; Andrew C Browning; Rita Horvath; Patrick F Chinnery; Patrick Yu-Wai-Man
Journal:  J Neurol       Date:  2012-12-13       Impact factor: 4.849

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.  Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Authors:  Gerald Pfeffer; Gráinne S Gorman; Helen Griffin; Marzena Kurzawa-Akanbi; Emma L Blakely; Ian Wilson; Kamil Sitarz; David Moore; Julie L Murphy; Charlotte L Alston; Angela Pyle; Jon Coxhead; Brendan Payne; George H Gorrie; Cheryl Longman; Marios Hadjivassiliou; John McConville; David Dick; Ibrahim Imam; David Hilton; Fiona Norwood; Mark R Baker; Stephan R Jaiser; Patrick Yu-Wai-Man; Michael Farrell; Allan McCarthy; Timothy Lynch; Robert McFarland; Andrew M Schaefer; Douglass M Turnbull; Rita Horvath; Robert W Taylor; Patrick F Chinnery
Journal:  Brain       Date:  2014-04-10       Impact factor: 13.501
  8 in total

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