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Results: 1 to 20 of 98

Related Citations for PubMed (Select 23401503)

1.

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.

Strauss KA, DuBiner L, Simon M, Zaragoza M, Sengupta PP, Li P, Narula N, Dreike S, Platt J, Procaccio V, Ortiz-González XR, Puffenberger EG, Kelley RI, Morton DH, Narula J, Wallace DC.

Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3453-8. doi: 10.1073/pnas.1300690110. Epub 2013 Feb 11.

2.

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.

Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M.

Hum Mol Genet. 2005 Oct 15;14(20):3079-88. Epub 2005 Sep 9.

3.

Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny.

Zaragoza MV, Brandon MC, Diegoli M, Arbustini E, Wallace DC.

Eur J Hum Genet. 2011 Feb;19(2):200-7. doi: 10.1038/ejhg.2010.169. Epub 2010 Oct 27.

4.

Do mitochondria contribute to left ventricular non-compaction cardiomyopathy? New findings from myocardium of patients with left ventricular non-compaction cardiomyopathy.

Liu S, Bai Y, Huang J, Zhao H, Zhang X, Hu S, Wei Y.

Mol Genet Metab. 2013 May;109(1):100-6. doi: 10.1016/j.ymgme.2013.02.004. Epub 2013 Feb 13.

PMID:
23465694
5.

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP.

J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30.

PMID:
18575922
6.

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

González-Vioque E, Blázquez A, Fernández-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernández-Moreno MA, Garesse R, Arenas J, Martín MA.

Arch Neurol. 2006 Jan;63(1):107-11.

PMID:
16401742
7.

Mitochondrial haplogroups modify the risk of developing hypertrophic cardiomyopathy in a Danish population.

Hagen CM, Aidt FH, Hedley PL, Jensen MK, Havndrup O, Kanters JK, Moolman-Smook JC, Larsen SO, Bundgaard H, Christiansen M.

PLoS One. 2013 Aug 5;8(8):e71904. doi: 10.1371/journal.pone.0071904. Print 2013.

8.

Adenine nucleotide translocase 1 deficiency results in dilated cardiomyopathy with defects in myocardial mechanics, histopathological alterations, and activation of apoptosis.

Narula N, Zaragoza MV, Sengupta PP, Li P, Haider N, Verjans J, Waymire K, Vannan M, Wallace DC.

JACC Cardiovasc Imaging. 2011 Jan;4(1):1-10. doi: 10.1016/j.jcmg.2010.06.018.

9.

A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator.

Graham BH, Waymire KG, Cottrell B, Trounce IA, MacGregor GR, Wallace DC.

Nat Genet. 1997 Jul;16(3):226-34.

PMID:
9207786
10.
11.

Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.

Bohlega S, Tanji K, Santorelli FM, Hirano M, al-Jishi A, DiMauro S.

Neurology. 1996 May;46(5):1329-34.

PMID:
8628476
12.

Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.

Echaniz-Laguna A, Chassagne M, Ceresuela J, Rouvet I, Padet S, Acquaviva C, Nataf S, Vinzio S, Bozon D, Mousson de Camaret B.

J Med Genet. 2012 Feb;49(2):146-50. doi: 10.1136/jmedgenet-2011-100504. Epub 2011 Dec 20.

PMID:
22187496
14.

Animal models for mitochondrial disease.

Wallace DC.

Methods Mol Biol. 2002;197:3-54. Review.

PMID:
12013805
15.

Suppression of mitochondrial DNA instability of autosomal dominant forms of progressive external ophthalmoplegia-associated ANT1 mutations in Podospora anserina.

El-Khoury R, Sainsard-Chanet A.

Genetics. 2009 Nov;183(3):861-71. doi: 10.1534/genetics.109.107813. Epub 2009 Aug 17.

16.

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.

Elpeleg O, Mandel H, Saada A.

J Mol Med (Berl). 2002 Jul;80(7):389-96. Epub 2002 May 24.

PMID:
12110944
17.

Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, Comi G, Narula J, Campana C, Gavazzi A, Danesino C, Viganò M.

Heart. 1998 Dec;80(6):548-58. Erratum in: Heart 1999 Mar;81(3):330.

18.

The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.

Brown MD, Starikovskaya E, Derbeneva O, Hosseini S, Allen JC, Mikhailovskaya IE, Sukernik RI, Wallace DC.

Hum Genet. 2002 Feb;110(2):130-8. Epub 2002 Jan 24.

PMID:
11935318
20.

Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy.

Arbustini E, Diegoli M, Fasani R, Grasso M, Morbini P, Banchieri N, Bellini O, Dal Bello B, Pilotto A, Magrini G, Campana C, Fortina P, Gavazzi A, Narula J, Viganò M.

Am J Pathol. 1998 Nov;153(5):1501-10.

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