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Results: 1 to 20 of 30

1.

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.

Yamashita S, Nishino I, Nonaka I, Goto Y.

J Hum Genet. 2008;53(7):598-606. doi: 10.1007/s10038-008-0289-8. Epub 2008 Apr 15.

PMID:
18414780
[PubMed - indexed for MEDLINE]
2.

Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DNA deletion.

McDonald DG, McMenamin JB, Farrell MA, Droogan O, Green AJ.

Am J Med Genet. 2002 Aug 1;111(2):191-4. Review.

PMID:
12210349
[PubMed - indexed for MEDLINE]
3.

[Deletions of mitochondrial DNA in Kearns-Sayre syndrome].

Soga F, Ueno S, Yorifuji S.

Nihon Rinsho. 1993 Sep;51(9):2386-90. Review. Japanese.

PMID:
8411717
[PubMed - indexed for MEDLINE]
4.

A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up.

Mohri I, Taniike M, Fujimura H, Matsuoka T, Inui K, Nagai T, Okada S.

J Neurol Sci. 1998 Jun 11;158(1):106-9. Review.

PMID:
9667787
[PubMed - indexed for MEDLINE]
5.

Mitochondrial DNA alterations as ageing-associated molecular events.

Wei YH.

Mutat Res. 1992 Sep;275(3-6):145-55. Review.

PMID:
1383757
[PubMed - indexed for MEDLINE]
6.

The generation of mitochondrial DNA large-scale deletions in human cells.

Chen T, He J, Huang Y, Zhao W.

J Hum Genet. 2011 Oct;56(10):689-94. doi: 10.1038/jhg.2011.97. Epub 2011 Aug 25. Review.

PMID:
21866113
[PubMed - indexed for MEDLINE]
7.

[Model mouse for mitochondrial DNA-based diseases].

Nakada K, Sato A, Hayashi J.

Rinsho Shinkeigaku. 2008 Nov;48(11):1013-5. Review. Japanese.

PMID:
19198148
[PubMed - indexed for MEDLINE]
8.

The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy.

Maceluch JA, Niedziela M.

Pediatr Endocrinol Rev. 2006 Dec-2007 Jan;4(2):117-37. Review.

PMID:
17342029
[PubMed - indexed for MEDLINE]
9.

A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression?

Binder V, Steenpass L, Laws HJ, Ruebo J, Borkhardt A.

J Pediatr Hematol Oncol. 2012 May;34(4):283-92. doi: 10.1097/MPH.0b013e3182288249. Review.

PMID:
22531495
[PubMed - indexed for MEDLINE]
10.

Role of the mitochondrial DNA and calmitine in myopathies.

Lestienne P, Bataillé N, Lucas-Héron B.

Biochim Biophys Acta. 1995 May 24;1271(1):159-63. Review.

PMID:
7599203
[PubMed - indexed for MEDLINE]
11.

Two direct repeats cause most human mtDNA deletions.

Samuels DC, Schon EA, Chinnery PF.

Trends Genet. 2004 Sep;20(9):393-8. Review.

PMID:
15313545
[PubMed - indexed for MEDLINE]
12.

Mitochondrial abnormalities in inclusion-body myositis.

Oldfors A, Moslemi AR, Jonasson L, Ohlsson M, Kollberg G, Lindberg C.

Neurology. 2006 Jan 24;66(2 Suppl 1):S49-55. Review.

PMID:
16432145
[PubMed - indexed for MEDLINE]
13.

Deletions of the mitochondrial genome.

Harding AE, Hammans SR.

J Inherit Metab Dis. 1992;15(4):480-6. Review.

PMID:
1528008
[PubMed - indexed for MEDLINE]
14.

Mitochondrial DNA rearrangements in health and disease--a comprehensive study.

Damas J, Samuels DC, Carneiro J, Amorim A, Pereira F.

Hum Mutat. 2014 Jan;35(1):1-14. doi: 10.1002/humu.22452. Epub 2013 Oct 18. Review.

PMID:
24115352
[PubMed - indexed for MEDLINE]
15.

Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation.

Finsterer J.

Acta Neurol Scand. 2007 Jul;116(1):1-14. Review.

PMID:
17587249
[PubMed - indexed for MEDLINE]
16.

[Maternally inherited diabetes mellitus, deafness, chronic progressive external ophthalmoplegia and myopathy as the result of A3243G mutation of mtDNA].

Gál A, Szabó A, Pentelényi K, Pál Z.

Orv Hetil. 2008 Aug 24;149(34):1593-8. doi: 10.1556/OH.2008.28398. Review. Hungarian.

PMID:
18708313
[PubMed - indexed for MEDLINE]
17.

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.

Oskoui M, Davidzon G, Pascual J, Erazo R, Gurgel-Giannetti J, Krishna S, Bonilla E, De Vivo DC, Shanske S, DiMauro S.

Arch Neurol. 2006 Aug;63(8):1122-6. Review.

PMID:
16908738
[PubMed - indexed for MEDLINE]
18.

Mitochondria in cybrids containing mtDNA from persons with mitochondriopathies.

Swerdlow RH.

J Neurosci Res. 2007 Nov 15;85(15):3416-28. Review.

PMID:
17243174
[PubMed - indexed for MEDLINE]
19.

[Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background].

Pronicka E, Piekutowska-Abramczuk D, Pronicki M.

Postepy Biochem. 2008;54(2):161-8. Review. Polish.

PMID:
18807927
[PubMed - indexed for MEDLINE]
20.

Recurrent pancreatitis in mitochondrial cytopathy.

Debray FG, Drouin E, Herzog D, Lortie A, Lambert M, Garel L, Mitchell GA, Michaud JL.

Am J Med Genet A. 2006 Nov 1;140(21):2330-5. Review.

PMID:
17022070
[PubMed - indexed for MEDLINE]

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