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Results: 1 to 20 of 110

1.

Prevalence of mitochondrial DNA disease in adults.

Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM.

Ann Neurol. 2008 Jan;63(1):35-9.

PMID:
17886296
[PubMed - indexed for MEDLINE]
2.

The epidemiology of pathogenic mitochondrial DNA mutations.

Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM.

Ann Neurol. 2000 Aug;48(2):188-93.

PMID:
10939569
[PubMed - indexed for MEDLINE]
3.

Homoplasmy, heteroplasmy, and mitochondrial dystonia.

McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AA, Foster SM, Tuppen HA, Ramesh V, Dorman PJ, Turnbull DM, Taylor RW.

Neurology. 2007 Aug 28;69(9):911-6.

PMID:
17724295
[PubMed - indexed for MEDLINE]
4.

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR.

Eur J Hum Genet. 2011 Jul;19(7):769-75. doi: 10.1038/ejhg.2011.18. Epub 2011 Mar 2.

PMID:
21364701
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.

Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, Ferre M, Fragaki K, Hardy G, Mousson de Camaret B, Marlin S, Dhaenens CM, Slama A, Rocher C, Paul Bonnefont J, Rötig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Le Quan Sang KH, Amati-Bonneau P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V.

J Med Genet. 2013 Oct;50(10):704-14. doi: 10.1136/jmedgenet-2013-101604. Epub 2013 Jul 11.

PMID:
23847141
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mitochondrial inheritance in depression, dysmotility and migraine?

Burnett BB, Gardner A, Boles RG.

J Affect Disord. 2005 Sep;88(1):109-16.

PMID:
16019080
[PubMed - indexed for MEDLINE]
7.

Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan.

Lee YC, Lu YC, Chang MH, Soong BW.

J Neurol Sci. 2007 Mar 15;254(1-2):65-8. Epub 2007 Feb 14.

PMID:
17300808
[PubMed - indexed for MEDLINE]
8.

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.

Baloh RH, Salavaggione E, Milbrandt J, Pestronk A.

Arch Neurol. 2007 Jul;64(7):998-1000.

PMID:
17620490
[PubMed - indexed for MEDLINE]
9.

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA.

Neurology. 2005 Apr 12;64(7):1204-8.

PMID:
15824347
[PubMed - indexed for MEDLINE]
10.

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, Zanna C, Vidoni S, Tonon C, Lodi R, Vetrugno R, Mostacci B, Liguori R, Carroccia R, Montagna P, Rugolo M, Torroni A, Carelli V.

Neurology. 2008 Mar 4;70(10):762-70. doi: 10.1212/01.wnl.0000295505.74234.d0. Epub 2008 Jan 23.

PMID:
18216301
[PubMed - indexed for MEDLINE]
11.

Risk of developing a mitochondrial DNA deletion disorder.

Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM.

Lancet. 2004 Aug 14-20;364(9434):592-6.

PMID:
15313359
[PubMed - indexed for MEDLINE]
12.

The epidemiology of Leber hereditary optic neuropathy in the North East of England.

Man PY, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF.

Am J Hum Genet. 2003 Feb;72(2):333-9. Epub 2002 Jan 7.

PMID:
12518276
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Phenotypic variations in 3 children with POLG1 mutations.

Burusnukul P, de los Reyes EC.

J Child Neurol. 2009 Apr;24(4):482-6. doi: 10.1177/0883073808324539. Epub 2009 Feb 2.

PMID:
19189930
[PubMed - indexed for MEDLINE]
14.

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ.

J Med Genet. 2007 Apr;44(4):e74.

PMID:
17400793
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.

Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay JP, Attarian S, Pellissier JF, Gargus JJ, Abdenur JE, Mozaffar T, Calvas P, Labauge P, Pages M, Wallace DC, Lambert JC, Paquis-Flucklinger V.

Mitochondrion. 2008 Mar;8(2):136-45. Epub 2007 Nov 6.

PMID:
18078792
[PubMed - indexed for MEDLINE]
16.

Accumulation of mitochondrial genome variations in Persian LQTS patients: a possible risk factor?

Khatami M, Houshmand M, Sadeghizadeh M, Eftekharzadeh M, Heidari MM, Saber S, Banihashemi K, Scheiber-Mojdehkar B.

Cardiovasc Pathol. 2010 Mar-Apr;19(2):e21-7. doi: 10.1016/j.carpath.2008.12.009. Epub 2009 Apr 14.

PMID:
19369097
[PubMed - indexed for MEDLINE]
17.

Epigenetics, epidemiology and mitochondrial DNA diseases.

Chinnery PF, Elliott HR, Hudson G, Samuels DC, Relton CL.

Int J Epidemiol. 2012 Feb;41(1):177-87. doi: 10.1093/ije/dyr232. Epub 2012 Jan 28. Review.

PMID:
22287136
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.

Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE.

Brain. 1995 Jun;118 ( Pt 3):721-34.

PMID:
7600089
[PubMed - indexed for MEDLINE]
19.

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

Hudson G, Keers S, Yu Wai Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IF, Smeets HJ, Chinnery PF.

Am J Hum Genet. 2005 Dec;77(6):1086-91. Epub 2005 Oct 11.

PMID:
16380918
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.

Kato T, Nishigaki Y, Noguchi Y, Ueno H, Hosoya H, Ito T, Kimura Y, Kitamura K, Tanaka M.

J Hum Genet. 2010 Mar;55(3):147-54. doi: 10.1038/jhg.2009.143. Epub 2010 Jan 29.

PMID:
20111055
[PubMed - indexed for MEDLINE]

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