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Results: 1 to 20 of 99

1.

Survey of human mitochondrial diseases using new genomic/proteomic tools.

Plasterer TN, Smith TF, Mohr SC.

Genome Biol. 2001;2(6):RESEARCH0021. Epub 2001 Jun 1.

PMID:
11423010
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan.

Pang CY, Huang CC, Yen MY, Wang EK, Kao KP, Chen SS, Wei YH.

J Formos Med Assoc. 1999 May;98(5):326-34.

PMID:
10420700
[PubMed - indexed for MEDLINE]
3.

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, Applegarth DA, Turnbull DM, Howell N.

Brain. 2001 Jan;124(Pt 1):209-18.

PMID:
11133798
[PubMed - indexed for MEDLINE]
Free Article
4.

Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis.

Kellar-Wood H, Robertson N, Govan GG, Compston DA, Harding AE.

Ann Neurol. 1994 Jul;36(1):109-12.

PMID:
8024249
[PubMed - indexed for MEDLINE]
5.

74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands.

Poulton J, Turnbull DM.

Neuromuscul Disord. 2000 Aug;10(6):460-2. No abstract available.

PMID:
10899455
[PubMed - indexed for MEDLINE]
6.

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

Johns DR, Berman J.

Biochem Biophys Res Commun. 1991 Feb 14;174(3):1324-30.

PMID:
1900003
[PubMed - indexed for MEDLINE]
7.

Mitochondrial DNA mutations in human degenerative diseases and aging.

Wallace DC, Shoffner JM, Trounce I, Brown MD, Ballinger SW, Corral-Debrinski M, Horton T, Jun AS, Lott MT.

Biochim Biophys Acta. 1995 May 24;1271(1):141-51. Review.

PMID:
7599200
[PubMed - indexed for MEDLINE]
8.

[Classification of mitochondrial diseases].

López de Munain A.

Rev Neurol. 1998 Apr;26 Suppl 1:S9-14. Review. Spanish.

PMID:
9810585
[PubMed - indexed for MEDLINE]
9.

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, Comi GP.

Hum Mutat. 2003 Dec;22(6):498-9.

PMID:
14635118
[PubMed - indexed for MEDLINE]
10.

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC.

Genetics. 1992 Jan;130(1):163-73.

PMID:
1732158
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy.

Singh G, Lott MT, Wallace DC.

N Engl J Med. 1989 May 18;320(20):1300-5.

PMID:
2566116
[PubMed - indexed for MEDLINE]
12.

[Molecular genetic analysis for Leber's hereditary optic neuropathy (LHON)].

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

Nihon Rinsho. 1993 Sep;51(9):2396-402. Review. Japanese.

PMID:
8411719
[PubMed - indexed for MEDLINE]
13.

Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.

Besch D, Leo-Kottler B, Zrenner E, Wissinger B.

Graefes Arch Clin Exp Ophthalmol. 1999 Sep;237(9):745-52.

PMID:
10447650
[PubMed - indexed for MEDLINE]
14.

Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.

Brown MD, Voljavec AS, Lott MT, MacDonald I, Wallace DC.

FASEB J. 1992 Jul;6(10):2791-9. Review.

PMID:
1634041
[PubMed - indexed for MEDLINE]
Free Article
15.

Human mitochondrial diseases: answering questions and questioning answers.

Howell N.

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

PMID:
9770297
[PubMed - indexed for MEDLINE]
16.

Mitochondrial DNA mutations associated with the 11778 mutation in Leber's disease.

Sawano T, Tanaka M, Ohno K, Yoneda M, Ota Y, Terasaki H, Awaya S, Ozawa T.

Biochem Mol Biol Int. 1996 Apr;38(4):693-700.

PMID:
8728098
[PubMed - indexed for MEDLINE]
17.

Neurological disease and mitochondrial genes.

Harding AE.

Trends Neurosci. 1991 Apr;14(4):132-8. Review.

PMID:
1710848
[PubMed - indexed for MEDLINE]
18.

Leber's hereditary optic neuropathy and Kearns-Sayre syndrome: mitochondrial DNA mutations.

Phillips CI, Gosden CM.

Surv Ophthalmol. 1991 May-Jun;35(6):463-72. Review. Erratum in: Surv Ophthalmol 1991 Sep-Oct;36(2):160.

PMID:
1755871
[PubMed - indexed for MEDLINE]
19.

Human deafness dystonia syndrome is a mitochondrial disease.

Koehler CM, Leuenberger D, Merchant S, Renold A, Junne T, Schatz G.

Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2141-6.

PMID:
10051608
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.

Wissinger B, Besch D, Baumann B, Fauser S, Christ-Adler M, Jurklies B, Zrenner E, Leo-Kottler B.

Biochem Biophys Res Commun. 1997 May 19;234(2):511-5.

PMID:
9177303
[PubMed - indexed for MEDLINE]

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