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Items: 1 to 20 of 613

1.

The expanding clinical spectrum of mitochondrial diseases.

De Vivo DC.

Brain Dev. 1993 Jan-Feb;15(1):1-22. Review.

PMID:
8338207
2.

Mitochondrial diseases.

Zeviani M, Taroni F.

Baillieres Clin Neurol. 1994 Aug;3(2):315-34. Review.

PMID:
7952850
3.

Mitochondrial encephalomyopathies.

Lombes A, Bonilla E, Dimauro S.

Rev Neurol (Paris). 1989;145(10):671-89. Review.

PMID:
2682927
4.

Recent developments in the molecular genetics of mitochondrial disorders.

Graeber MB, Müller U.

J Neurol Sci. 1998 Jan 8;153(2):251-63. Review.

PMID:
9511882
5.

Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation.

Isashiki Y, Nakagawa M, Ohba N, Kamimura K, Sakoda Y, Higuchi I, Izumo S, Osame M.

Acta Ophthalmol Scand. 1998 Feb;76(1):6-13.

6.

Human mitochondrial diseases: answering questions and questioning answers.

Howell N.

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

PMID:
9770297
7.

Mitochondrial encephalomyopathies.

DiMauro S, Moraes CT.

Arch Neurol. 1993 Nov;50(11):1197-208. Review.

PMID:
8215979
8.

Defects of mitochondrial DNA.

Zeviani M, Antozzi C.

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

PMID:
1341953
9.

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.

Campos Y, Martin MA, Lorenzo G, Aparicio M, Cabello A, Arenas J.

Muscle Nerve. 1996 Feb;19(2):187-90.

PMID:
8559168
10.

Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.

Jean-Francois MJ, Lertrit P, Berkovic SF, Crimmins D, Morris J, Marzuki S, Byrne E.

Aust N Z J Med. 1994 Apr;24(2):188-93.

PMID:
8042948
11.

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies.

Hammans SR, Sweeney MG, Wicks DA, Morgan-Hughes JA, Harding AE.

Brain. 1992 Apr;115 ( Pt 2):343-65. Erratum in: Brain 1993 Feb;116(Pt 1):following 306.

PMID:
1606473
12.

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
13.

Mitochondrial Disorders Overview.

Chinnery PF.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2000 Jun 8 [updated 2014 Aug 14].

14.

Diseases resulting from mitochondrial DNA point mutations.

Wallace DC, Lott MT, Shoffner JM, Brown MD.

J Inherit Metab Dis. 1992;15(4):472-9. Review.

PMID:
1528007
15.

A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.

Nishigaki Y, Tadesse S, Bonilla E, Shungu D, Hersh S, Keats BJ, Berlin CI, Goldberg MF, Vockley J, DiMauro S, Hirano M.

Neuromuscul Disord. 2003 May;13(4):334-40.

PMID:
12868503
16.

Energy metabolism in disorders of the nervous system.

Blass JP, Sheu RK, Cedarbaum JM.

Rev Neurol (Paris). 1988;144(10):543-63. Review.

PMID:
2973643
17.

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
18.

Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations.

James AM, Wei YH, Pang CY, Murphy MP.

Biochem J. 1996 Sep 1;318 ( Pt 2):401-7.

19.

The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options.

Scaglia F, Northrop JL.

CNS Drugs. 2006;20(6):443-64. Review. Erratum in: CNS Drugs. 2008;22(1):81.

PMID:
16734497
20.

Mitochondrial DNA alterations and genetic diseases: a review.

Lestienne P, Bataillé N.

Biomed Pharmacother. 1994;48(5-6):199-214. Review.

PMID:
7999980

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