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Items: 1 to 20 of 105

1.

Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient.

Liu CH, Liou CW, Liu CH, Kuo HC, Chu CC, Huang CC.

Acta Neurol Taiwan. 2011 Mar;20(1):53-8.

PMID:
21249588
2.

[Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome].

Wang ZX, Yuan Y, Gao F, Qi Y, Shen DG, Chen QT.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Aug;20(4):273-8. Chinese.

PMID:
12903032
3.

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.

4.

A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome.

Seneca S, Verhelst H, De Meirleir L, Meire F, Ceuterick-De Groote C, Lissens W, Van Coster R.

Arch Neurol. 2001 Jul;58(7):1113-8. Review.

PMID:
11448301
5.

Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia.

Kiyomoto BH, Tengan CH, Moraes CT, Oliveira AS, Gabbai AA.

J Neurol Sci. 1997 Nov 25;152(2):160-5.

PMID:
9415537
6.

Mitochondrial genome analysis in Kearns-Sayre syndrome.

Lertrit P, Atchaneeyasakul L, Devahastin V, Saechan V, Sangruchi T, Neungton N, Lekhakula S.

Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:162-5.

PMID:
8629098
7.

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

Zupanc ML, Moraes CT, Shanske S, Langman CB, Ciafaloni E, DiMauro S.

Ann Neurol. 1991 Jun;29(6):680-3.

PMID:
1892371
8.

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

Ito T.

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

PMID:
8320824
9.

[Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases].

Barrientos A, Casademont J, Grau JM, Cardellach F, Montoya J, Estivill X, Urbano-Márquez A, Nunes V.

Med Clin (Barc). 1995 Jul 1;105(5):180-4. Spanish.

PMID:
7630231
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.

Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.

Marotta R, Chin J, Quigley A, Katsabanis S, Kapsa R, Byrne E, Collins S.

Intern Med J. 2004 Jan-Feb;34(1-2):10-9.

PMID:
14748908
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.

[Chronic progressive external ophthalmoplegia--symptom or syndrome?].

Bau V, Deschauer M, Zierz S.

Klin Monbl Augenheilkd. 2009 Oct;226(10):822-8. doi: 10.1055/s-0028-1109800. Epub 2009 Oct 14. Review. German.

PMID:
19830638
14.

[Mitochondrial DNA deletions in Kearns-Sayre syndrome].

Carod-Artal FJ, Lopez Gallardo E, Solano A, Dahmani Y, Herrero MD, Montoya J.

Neurologia. 2006 Sep;21(7):357-64. Spanish.

PMID:
16977556
15.

Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.

Bosbach S, Kornblum C, Schröder R, Wagner M.

Brain. 2003 May;126(Pt 5):1231-40.

PMID:
12690061
16.

Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

Poulton J, Morten KJ, Weber K, Brown GK, Bindoff L.

Hum Mol Genet. 1994 Jun;3(6):947-51.

PMID:
7951243
17.

[Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation].

Zhang Y, Wang ZX, Niu SL, Xu YF, Pei P, Yuan Y, Yang YL, Qi Y.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2005 Feb;27(1):77-80. Chinese.

PMID:
15782498
18.

Are mitochondrial DNA deletions causative in chronic progressive external ophthalmoplegia patients?

Jean-Francois MJ, Collins S, Kotsimbos N, Dennett X, Byrne E.

J Clin Neurosci. 1997 Apr;4(2):163-8.

PMID:
18638949
19.

External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation.

Hansrote S, Croul S, Selak M, Kalman B, Schwartzman RJ.

J Neurol Sci. 2002 May 15;197(1-2):63-7.

PMID:
11997068
20.

[Mitochondrial respiratory chain diseases. Evaluation and variability in 52 patients].

Arpa-Gutiérrez FJ, Cruz-Martínez A, Campos-González Y, Gutiérrez-Molina M, Santiago-Pérez S, Pérez-Conde MC, López-Pajares MR, Martín-Casarrubias MA, Rubio-Muñoz JC, del Hoyo P, Arpa-Fernández A, Arenas-Barbero J.

Rev Neurol. 2005 Oct 16-31;41(8):449-54. Spanish.

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