Literature DB >> 9837811

Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome.

H H Dahl1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9837811      PMCID： PMC1377630          DOI： 10.1086/302169

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  23 in total

Review 1.  Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration.

Authors:  S Di Donato
Journal:  J Inherit Metab Dis       Date:  2000-05       Impact factor: 4.982

2.  Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees.

Authors:  Kinga Hadzsiev; Anita Maasz; Peter Kisfali; Endre Kalman; Eva Gomori; Endre Pal; Ervin Berenyi; Katalin Komlosi; Bela Melegh
Journal:  Neuromolecular Med       Date:  2010-05-26       Impact factor: 3.843

Review 3.  Movement disorders in mitochondrial disease.

Authors:  Roula Ghaoui; Carolyn M Sue
Journal:  J Neurol       Date:  2018-01-06       Impact factor: 4.849

4.  A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16.

Authors:  N Lee; M J Daly; T Delmonte; E S Lander; F Xu; T J Hudson; G A Mitchell; C C Morin; B H Robinson; J D Rioux
Journal:  Am J Hum Genet       Date:  2001-01-10       Impact factor: 11.025

Review 5.  Postmortem studies on mitochondria in schizophrenia.

Authors:  Rosalinda C Roberts
Journal:  Schizophr Res       Date:  2017-02-09       Impact factor: 4.939

6.  Multiregional gene expression profiling identifies MRPS6 as a possible candidate gene for Parkinson's disease.

Authors:  Spiridon Papapetropoulos; Jarlath Ffrench-Mullen; Donald McCorquodale; Yujing Qin; John Pablo; Deborah C Mash
Journal:  Gene Expr       Date:  2006

7.  Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects.

Authors:  Fernando Scaglia; Lee-Jun C Wong; Georgirene D Vladutiu; Jill V Hunter
Journal:  AJNR Am J Neuroradiol       Date:  2005-08       Impact factor: 3.825

Review 8.  SDH-related pheochromocytoma and paraganglioma.

Authors:  Vitaly Kantorovich; Kathryn S King; Karel Pacak
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2010-06       Impact factor: 4.690

9.  A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Authors:  Sze Chern Lim; Katherine R Smith; David A Stroud; Alison G Compton; Elena J Tucker; Ayan Dasvarma; Luke C Gandolfo; Justine E Marum; Matthew McKenzie; Heidi L Peters; David Mowat; Peter G Procopis; Bridget Wilcken; John Christodoulou; Garry K Brown; Michael T Ryan; Melanie Bahlo; David R Thorburn
Journal:  Am J Hum Genet       Date:  2014-01-23       Impact factor: 11.025

10.  Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

Authors:  M Gerards; W Sluiter; B J C van den Bosch; L E A de Wit; C M H Calis; M Frentzen; H Akbari; K Schoonderwoerd; H R Scholte; R J Jongbloed; A T M Hendrickx; I F M de Coo; H J M Smeets
Journal:  J Med Genet       Date:  2009-06-18       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.