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Items: 1 to 20 of 74

1.

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.

Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S.

Eur J Hum Genet. 1993;1(1):80-7. Erratum in: Eur J Hum Genet 1993;1(2):124.

PMID:
8069654
2.

[Molecular genetic analysis for myoclonus epilepsy associated with ragged-red fibers (MERRF)].

Tanno Y, Yoneda M, Tanaka K, Tsuji S.

Nihon Rinsho. 1993 Sep;51(9):2379-85. Review. Japanese.

PMID:
8411716
3.

Mitochondrial diseases.

Nonaka I.

Curr Opin Neurol Neurosurg. 1992 Oct;5(5):622-32. Review.

PMID:
1392136
4.

Human mitochondrial diseases: answering questions and questioning answers.

Howell N.

Int Rev Cytol. 1999;186:49-116. Review.

PMID:
9770297
5.

MERRF: a model disease for understanding the principles of mitochondrial genetics.

Shoffner JM, Lott MT, Wallace DC.

Rev Neurol (Paris). 1991;147(6-7):431-5. Review.

PMID:
1962048
6.

A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA.

Nagashima T, Kato H, Maguchi S, Chuma T, Mano Y, Goto Y, Nonaka I, Nagashima K.

Neuromuscul Disord. 2001 Jul;11(5):470-6. Review.

PMID:
11404119
7.

Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.

Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M, Corti S, Bresolin N, Comi GP.

J Neurol Sci. 2009 Jun 15;281(1-2):85-92. doi: 10.1016/j.jns.2009.01.025. Epub 2009 Mar 10. Review.

PMID:
19278689
8.

Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas.

Larsson NG, Tulinius MH, Holme E, Oldfors A.

Muscle Nerve Suppl. 1995;3:S102-6. Review.

PMID:
7603509
10.

[MERRF/MELAS overlap syndrome].

Goto Y.

Nihon Rinsho. 2002 Apr;60 Suppl 4:296-7. Review. Japanese. No abstract available.

PMID:
12013869
11.

Defects of mitochondrial DNA.

Zeviani M, Antozzi C.

Brain Pathol. 1992 Apr;2(2):121-32. Review.

PMID:
1341953
12.

[Molecular biology of mitochondrial DNA and mutations in mitochondrial cytopathy].

Ito T.

Nihon Rinsho. 1993 Jun;51(6):1425-8. Review. Japanese.

PMID:
8320824
13.

[Diseases caused by mitochondrial DNA mutations].

Wijburg FA, van den Bogert C, de Visser M, Oostra RJ, Bakker PA, Bolhuis PA.

Ned Tijdschr Geneeskd. 1995 Jul 1;139(26):1322-6. Review. Dutch. No abstract available.

PMID:
7617049
14.

Mitochondrial DNA mutation and muscle pathology in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.

Mita S, Tokunaga M, Kumamoto T, Uchino M, Nonaka I, Ando M.

Muscle Nerve Suppl. 1995;3:S113-8. Review.

PMID:
7603511
15.

[Clinical characterization of diabetes mellitus in the families with mitochondrial encephalomyopathies].

Suzuki S.

Nihon Rinsho. 1994 Oct;52(10):2606-10. Review. Japanese.

PMID:
7527090
16.
17.
18.

Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs.

Suzuki T, Nagao A, Suzuki T.

Wiley Interdiscip Rev RNA. 2011 May-Jun;2(3):376-86. doi: 10.1002/wrna.65. Epub 2011 Feb 25. Review.

PMID:
21957023
19.

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP.

Am J Med Genet. 1994 Apr 15;50(3):265-71. Review.

PMID:
8042671
20.

Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems.

Attardi G, Yoneda M, Chomyn A.

Biochim Biophys Acta. 1995 May 24;1271(1):241-8. Review.

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