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Items: 1 to 20 of 213

1.

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.

2.

Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain.

Castro-Gago M, Blanco-Barca MO, Campos-González Y, Arenas-Barbero J, Pintos-Martínez E, Eirís-Puñal J.

Pediatr Neurol. 2006 Mar;34(3):204-11.

PMID:
16504790
3.

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.

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.

5.
6.

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ.

Hum Mutat. 2013 Jun;34(6):882-93. doi: 10.1002/humu.22307. Epub 2013 Apr 2.

PMID:
23463613
7.

Comprehensive scanning of the entire mitochondrial genome for mutations.

Wong LJ, Liang MH, Kwon H, Park J, Bai RK, Tan DJ.

Clin Chem. 2002 Nov;48(11):1901-12.

8.

Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.

Wani AA, Ahanger SH, Bapat SA, Rangrez AY, Hingankar N, Suresh CG, Barnabas S, Patole MS, Shouche YS.

PLoS One. 2007 Sep 26;2(9):e942.

9.

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.

Feigenbaum A, Bai RK, Doherty ES, Kwon H, Tan D, Sloane A, Cutz E, Robinson BH, Wong LJ.

Am J Med Genet A. 2006 Oct 15;140(20):2216-22.

PMID:
16955414
10.
11.

Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.

Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R.

J Med Genet. 2001 Oct;38(10):665-73.

12.

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ.

J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31.

PMID:
21880868
13.

Quantitative evaluation of the mitochondrial DNA depletion syndrome.

Dimmock D, Tang LY, Schmitt ES, Wong LJ.

Clin Chem. 2010 Jul;56(7):1119-27. doi: 10.1373/clinchem.2009.141549. Epub 2010 May 6.

14.

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
15.

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia.

Kornblum C, Zsurka G, Wiesner RJ, Schröder R, Kunz WS.

Biosci Rep. 2008 Apr;28(2):89-96. doi: 10.1042/BSR20080004.

PMID:
18384291
16.

Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis.

Ueki I, Koga Y, Povalko N, Akita Y, Nishioka J, Yatsuga S, Fukiyama R, Matsuishi T.

Mitochondrion. 2006 Feb;6(1):29-36. Epub 2005 Dec 5.

PMID:
16337222
17.

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM.

Nat Genet. 2002 Feb;30(2):145-6. Epub 2002 Jan 22.

PMID:
11799391
18.

Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.

Rubio-Gozalbo ME, Dijkman KP, van den Heuvel LP, Sengers RC, Wendel U, Smeitink JA.

Hum Mutat. 2000;15(6):522-32.

PMID:
10862082
19.

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
20.

Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.

Tarnopolsky M, Meaney B, Robinson B, Sheldon K, Boles RG.

Am J Med Genet A. 2013 Aug;161A(8):2020-3. doi: 10.1002/ajmg.a.36000. Epub 2013 Jun 27.

PMID:
23813926

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