Literature DB >> 25022940

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation.

Pankaj Prasun1, Dwight D Koeberl.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 25022940     DOI： 10.1007/s00415-014-7428-2

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


× No keyword cloud information.
  10 in total

Review 1.  Multisystem manifestations of mitochondrial disorders.

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

2.  In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells.

Authors:  J N Spelbrink; J M Toivonen; G A Hakkaart; J M Kurkela; H M Cooper; S K Lehtinen; N Lecrenier; J W Back; D Speijer; F Foury; H T Jacobs
Journal:  J Biol Chem       Date:  2000-08-11       Impact factor: 5.157

Review 3.  Mitochondrial syndromes with leukoencephalopathies.

Authors:  Lee-Jun C Wong
Journal:  Semin Neurol       Date:  2012-03-15       Impact factor: 3.420

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

5.  Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

Authors:  Aziz Shaibani; Oleg A Shchelochkov; Shulin Zhang; Panagiotis Katsonis; Olivier Lichtarge; Lee-Jun Wong; Marwan Shinawi
Journal:  Arch Neurol       Date:  2009-08

6.  POLG1 variations presenting as multiple sclerosis.

Authors:  Andoni Echaniz-Laguna; Maïté Chassagne; Jérôme de Sèze; Michel Mohr; Pascale Clerc-Renaud; Christine Tranchant; Bénédicte Mousson de Camaret
Journal:  Arch Neurol       Date:  2010-09

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.  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

Authors:  Michio Hirano; Yutaka Nishigaki; Ramon Martí
Journal:  Neurologist       Date:  2004-01       Impact factor: 1.398

9.  Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

Authors:  Gert Van Goethem; Marianne Schwartz; Ann Löfgren; Bart Dermaut; Christine Van Broeckhoven; John Vissing
Journal:  Eur J Hum Genet       Date:  2003-07       Impact factor: 4.246

10.  Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.

Authors:  Sjoerd Wanrooij; Steffi Goffart; Jaakko L O Pohjoismäki; Takehiro Yasukawa; Johannes N Spelbrink
Journal:  Nucleic Acids Res       Date:  2007-04-22       Impact factor: 16.971
  10 in total
  4 in total

Review 1.  Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.

Authors:  Dario Pacitti; Michelle Levene; Caterina Garone; Niranjanan Nirmalananthan; Bridget E Bax
Journal:  Front Genet       Date:  2018-12-21       Impact factor: 4.599

Review 2.  POLG-related disorders and their neurological manifestations.

Authors:  Shamima Rahman; William C Copeland
Journal:  Nat Rev Neurol       Date:  2019-01       Impact factor: 42.937

Review 3.  Mitochondrial disease: genetics and management.

Authors:  Yi Shiau Ng; Doug M Turnbull
Journal:  J Neurol       Date:  2015-08-28       Impact factor: 4.849

4.  Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment.

Authors:  Bridget E Bax
Journal:  J Transl Genet Genom       Date:  2020-03-30
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.