Literature DB >> 18160290

155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands.

Patrick F Chinnery1, Massimo Zeviani.   

Abstract

Mesh：

Substances：

Year:  2007        PMID： 18160290     DOI： 10.1016/j.nmd.2007.11.005

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


× No keyword cloud information.
  27 in total

1.  Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy.

Authors:  Mika H Martikainen; Reetta Hinttala; Kari Majamaa
Journal:  BMJ Case Rep       Date:  2010-09-29

Review 2.  Multisystem manifestations of mitochondrial disorders.

Authors:  Stefano Di Donato
Journal:  J Neurol       Date:  2009-03-01       Impact factor: 4.849

Review 3.  Alpers-Huttenlocher syndrome.

Authors:  Russell P Saneto; Bruce H Cohen; William C Copeland; Robert K Naviaux
Journal:  Pediatr Neurol       Date:  2013-03       Impact factor: 3.372

Review 4.  Clinical and molecular features of POLG-related mitochondrial disease.

Authors:  Jeffrey D Stumpf; Russell P Saneto; William C Copeland
Journal:  Cold Spring Harb Perspect Biol       Date:  2013-04-01       Impact factor: 10.005

Review 5.  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

6.  Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

Authors:  Maggie C Walter; Birgit Czermin; Solvig Muller-Ziermann; Stefanie Bulst; Joanna D Stewart; Gavin Hudson; Peter Schneiderat; Angela Abicht; Elke Holinski-Feder; Hanns Lochmüller; Patrick F Chinnery; Thomas Klopstock; Rita Horvath
Journal:  J Neurol       Date:  2010-04-20       Impact factor: 4.849

7.  A single mutation in human mitochondrial DNA polymerase Pol gammaA affects both polymerization and proofreading activities of only the holoenzyme.

Authors:  Young-Sam Lee; Kenneth A Johnson; Ian J Molineux; Y Whitney Yin
Journal:  J Biol Chem       Date:  2010-05-31       Impact factor: 5.157

8.  Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations.

Authors:  Young-Sam Lee; W Dexter Kennedy; Y Whitney Yin
Journal:  Cell       Date:  2009-10-16       Impact factor: 41.582

9.  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

10.  OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.

Authors:  Patrick Yu-Wai-Man; Kamil S Sitarz; David C Samuels; Philip G Griffiths; Amy K Reeve; Laurence A Bindoff; Rita Horvath; Patrick F Chinnery
Journal:  Hum Mol Genet       Date:  2010-05-18       Impact factor: 6.150
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.