Literature DB >> 17502560

MELAS associated with mutations in the POLG1 gene.

M Deschauer1, S Tennant, A Rokicka, L He, T Kraya, D M Turnbull, S Zierz, R W Taylor.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2007        PMID： 17502560     DOI： 10.1212/01.wnl.0000261929.92478.3e

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


× No keyword cloud information.
  31 in total

1.  Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.

Authors:  Rajesh Kasiviswanathan; Matthew J Longley; Sherine S L Chan; William C Copeland
Journal:  J Biol Chem       Date:  2009-05-28       Impact factor: 5.157

2.  MELAS/SANDO overlap syndrome associated with POLG1 mutations.

Authors:  Niels Hansen; Thomas Zwarg; Isabel Wanke; Stephan Zierz; Oliver Kastrup; Marcus Deschauer
Journal:  Neurol Sci       Date:  2011-06-07       Impact factor: 3.307

3.  Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

Authors:  Waleed Brinjikji; Jerry W Swanson; Carrie Zabel; Peter J Dyck; Jennifer A Tracy; Ralitza H Gavrilova
Journal:  JIMD Rep       Date:  2011-06-22

4.  MELAS syndrome associated with a new mitochondrial tRNA-Val gene mutation (m.1616A>G).

Authors:  Yuka Toyoshima; Yuji Tanaka; Kazuo Satomi
Journal:  BMJ Case Rep       Date:  2017-09-11

Review 5.  Heritable and non-heritable uncommon causes of stroke.

Authors:  A Bersano; M Kraemer; A Burlina; M Mancuso; J Finsterer; S Sacco; C Salvarani; L Caputi; H Chabriat; S Lesnik Oberstein; A Federico; E Tournier Lasserve; D Hunt; M Dichgans; M Arnold; S Debette; H S Markus
Journal:  J Neurol       Date:  2020-04-21       Impact factor: 4.849

6.  Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Authors:  Helen Swalwell; Denise M Kirby; Emma L Blakely; Anna Mitchell; Renato Salemi; Canny Sugiana; Alison G Compton; Elena J Tucker; Bi-Xia Ke; Phillipa J Lamont; Douglass M Turnbull; Robert McFarland; Robert W Taylor; David R Thorburn
Journal:  Eur J Hum Genet       Date:  2011-03-02       Impact factor: 4.246

7.  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

Authors:  Sha Tang; Elliot L Dimberg; Margherita Milone; Lee-Jun C Wong
Journal:  J Neurol       Date:  2011-10-13       Impact factor: 4.849

Review 8.  Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases.

Authors:  Alessandra Torraco; Francisca Diaz; Uma D Vempati; Carlos T Moraes
Journal:  Biochim Biophys Acta       Date:  2008-06-13

Review 9.  Mitochondrial disease in childhood: nuclear encoded.

Authors:  Amy C Goldstein; Poonam Bhatia; Jodie M Vento
Journal:  Neurotherapeutics       Date:  2013-04       Impact factor: 7.620

10.  A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report.

Authors:  Khaled K Abu-Amero; Hesham Al-Dhalaan; Saeed Bohlega; Ali Hellani; Robert W Taylor
Journal:  J Med Case Rep       Date:  2009-10-15
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.