Literature DB >> 19204268

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

R G Whittaker1, J K Blackwood, C L Alston, E L Blakely, J L Elson, R McFarland, P F Chinnery, D M Turnbull, R W Taylor.   

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Year:  2009        PMID： 19204268      PMCID： PMC2818183          DOI： 10.1212/01.wnl.0000342121.91336.4d

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


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  7 in total

1.  Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

Authors:  Martina T McDonnell; Andrew M Schaefer; Emma L Blakely; Robert McFarland; Patrick F Chinnery; Douglass M Turnbull; Robert W Taylor
Journal:  Eur J Hum Genet       Date:  2004-09       Impact factor: 4.246

2.  Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.

Authors:  Sara Shanske; Jacklyn Pancrudo; Petra Kaufmann; Kristin Engelstad; Sarah Jhung; Jiesheng Lu; Ali Naini; Salvatore DiMauro; Darryl C De Vivo
Journal:  Am J Med Genet A       Date:  2004-10-01       Impact factor: 2.802

3.  Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

Authors:  P F Chinnery; N Howell; R N Lightowlers; D M Turnbull
Journal:  Brain       Date:  1997-10       Impact factor: 13.501

4.  Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

Authors:  S Rahman; J Poulton; D Marchington; A Suomalainen
Journal:  Am J Hum Genet       Date:  2000-11-20       Impact factor: 11.025

5.  Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation.

Authors:  C Macmillan; B Lach; E A Shoubridge
Journal:  Neurology       Date:  1993-08       Impact factor: 9.910

6.  Mitochondrial disease in adults: a scale to monitor progression and treatment.

Authors:  A M Schaefer; C Phoenix; J L Elson; R McFarland; P F Chinnery; D M Turnbull
Journal:  Neurology       Date:  2006-06-27       Impact factor: 9.910

7.  Prevalence of mitochondrial DNA disease in adults.

Authors:  Andrew M Schaefer; Robert McFarland; Emma L Blakely; Langping He; Roger G Whittaker; Robert W Taylor; Patrick F Chinnery; Douglass M Turnbull
Journal:  Ann Neurol       Date:  2008-01       Impact factor: 10.422
  7 in total
  32 in total

1.  Inheritance of the m.3243A>G mutation.

Authors:  Paul de Laat; Saskia Koene; Lambert P W J Vd Heuvel; Richard J T Rodenburg; Mirian C H Janssen; Jan A M Smeitink
Journal:  JIMD Rep       Date:  2012-07-06

2.  Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.

Authors:  Rohit Sharma; Bryn Reinstadler; Kristin Engelstad; Owen S Skinner; Erin Stackowitz; Ronald G Haller; Clary B Clish; Kerry Pierce; Melissa A Walker; Robert Fryer; Devin Oglesbee; Xiangling Mao; Dikoma C Shungu; Ashok Khatri; Michio Hirano; Darryl C De Vivo; Vamsi K Mootha
Journal:  J Clin Invest       Date:  2021-01-19       Impact factor: 14.808

Review 3.  Opportunities and challenges for selected emerging technologies in cancer epidemiology: mitochondrial, epigenomic, metabolomic, and telomerase profiling.

Authors:  Mukesh Verma; Muin J Khoury; John P A Ioannidis
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2012-12-14       Impact factor: 4.254

4.  Mitochondrial DNA abnormalities in ophthalmological disease.

Authors:  Grainne S Gorman; Robert W Taylor
Journal:  Saudi J Ophthalmol       Date:  2011-02-18

5.  Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual ability.

Authors:  Heather L Moore; Thomas Kelly; Alexandra Bright; Robert H Field; Andrew M Schaefer; Alasdair P Blain; Robert W Taylor; Robert McFarland; Doug M Turnbull; Gráinne S Gorman
Journal:  Ann Clin Transl Neurol       Date:  2019-03-27       Impact factor: 4.511

6.  Maternally inherited mitochondrial DNA disease in consanguineous families.

Authors:  Charlotte L Alston; Langping He; Andrew A Morris; Imelda Hughes; Christian de Goede; Douglass M Turnbull; Robert McFarland; Robert W Taylor
Journal:  Eur J Hum Genet       Date:  2011-06-29       Impact factor: 4.246

7.  Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.

Authors:  Paul de Laat; Saskia Koene; Lambert P W J van den Heuvel; Richard J T Rodenburg; Mirian C H Janssen; Jan A M Smeitink
Journal:  J Inherit Metab Dis       Date:  2012-03-09       Impact factor: 4.982

Review 8.  Diagnosis and treatment of mitochondrial myopathies.

Authors:  Gerald Pfeffer; Patrick F Chinnery
Journal:  Ann Med       Date:  2011-08-25       Impact factor: 4.709

Review 9.  Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Authors:  Sumit Parikh; Amy Goldstein; Mary Kay Koenig; Fernando Scaglia; Gregory M Enns; Russell Saneto; Irina Anselm; Bruce H Cohen; Marni J Falk; Carol Greene; Andrea L Gropman; Richard Haas; Michio Hirano; Phil Morgan; Katherine Sims; Mark Tarnopolsky; Johan L K Van Hove; Lynne Wolfe; Salvatore DiMauro
Journal:  Genet Med       Date:  2014-12-11       Impact factor: 8.822

10.  Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.

Authors:  Matthew G D Bates; Kieren G Hollingsworth; Jane H Newman; Djordje G Jakovljevic; Andrew M Blamire; Guy A MacGowan; Bernard D Keavney; Patrick F Chinnery; Douglass M Turnbull; Robert W Taylor; Michael I Trenell; Grainne S Gorman
Journal:  Eur Heart J Cardiovasc Imaging       Date:  2012-11-04       Impact factor: 6.875
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