Literature DB >> 15576042

The epidemiology of mitochondrial disorders--past, present and future.

Andrew M Schaefer1, Robert W Taylor, Douglass M Turnbull, Patrick F Chinnery.   

Abstract

A number of epidemiological studies of mitochondrial disease have been carried out over the last decade, clearly demonstrating that mitochondrial disorders are far more common than was previously accepted. This review summarizes current knowledge of the prevalence of human mitochondrial disorders--data that has important implications for the provision of health care and adequate resources for research into the pathogenesis and treatment of these disorders.

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Year:  2004        PMID: 15576042     DOI: 10.1016/j.bbabio.2004.09.005

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN: 0006-3002


  114 in total

1.  Some physicochemical properties of hemoglobin-manitoba (alpha2 102Ser replaced by Arg (G9) beta2).

Authors:  R N Wrightstone; L L Smith; J B Wilson; F Vella; T H Huisman
Journal:  Biochim Biophys Acta       Date:  1975-12-15

Review 2.  Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Authors:  Christine Vianey-Saban; Cécile Acquaviva; David Cheillan; Sophie Collardeau-Frachon; Laurent Guibaud; Cécile Pagan; Magali Pettazzoni; Monique Piraud; Antonin Lamazière; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2016-07-08       Impact factor: 4.982

Review 3.  Mitochondrial DNA mutations in human disease.

Authors:  Robert W Taylor; Doug M Turnbull
Journal:  Nat Rev Genet       Date:  2005-05       Impact factor: 53.242

Review 4.  From small things.

Authors:  Toby Reynolds
Journal:  BMJ       Date:  2007-10-13

5.  Tissue specific distribution of the 3243A->G mtDNA mutation.

Authors:  A L Frederiksen; P H Andersen; K O Kyvik; T D Jeppesen; J Vissing; M Schwartz
Journal:  J Med Genet       Date:  2006-02-20       Impact factor: 6.318

6.  Modulating mtDNA heteroplasmy by mitochondria-targeted restriction endonucleases in a 'differential multiple cleavage-site' model.

Authors:  S R Bacman; S L Williams; D Hernandez; C T Moraes
Journal:  Gene Ther       Date:  2007-06-28       Impact factor: 5.250

7.  A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations.

Authors:  Weiwei Fan; Katrina G Waymire; Navneet Narula; Peng Li; Christophe Rocher; Pinar E Coskun; Mani A Vannan; Jagat Narula; Grant R Macgregor; Douglas C Wallace
Journal:  Science       Date:  2008-02-15       Impact factor: 47.728

8.  A history of mitochondrial diseases.

Authors:  Salvatore Dimauro
Journal:  J Inherit Metab Dis       Date:  2010-05-21       Impact factor: 4.982

9.  MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences.

Authors:  Marty C Brandon; Eduardo Ruiz-Pesini; Dan Mishmar; Vincent Procaccio; Marie T Lott; Kevin Cuong Nguyen; Syawal Spolim; Upen Patil; Pierre Baldi; Douglas C Wallace
Journal:  Hum Mutat       Date:  2009-01       Impact factor: 4.878

Review 10.  Anesthetic considerations in patients with mitochondrial defects.

Authors:  Julie Niezgoda; Phil G Morgan
Journal:  Paediatr Anaesth       Date:  2013-03-28       Impact factor: 2.556

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