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Results: 1 to 20 of 401

1.

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

Van Goethem G, Martin JJ, Van Broeckhoven C.

Acta Neurol Belg. 2002 Mar;102(1):39-42. Review.

PMID:
12094562
[PubMed - indexed for MEDLINE]
2.
3.

Diseases caused by nuclear genes affecting mtDNA stability.

Suomalainen A, Kaukonen J.

Am J Med Genet. 2001 Spring;106(1):53-61. Review.

PMID:
11579425
[PubMed - indexed for MEDLINE]
4.

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C.

Nat Genet. 2001 Jul;28(3):211-2.

PMID:
11431686
[PubMed - indexed for MEDLINE]
5.

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A.

Lancet. 2004 Sep 4-10;364(9437):875-82.

PMID:
15351195
[PubMed - indexed for MEDLINE]
6.

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A.

Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009. Epub 2009 Aug 6.

PMID:
19664747
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP.

J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30.

PMID:
18575922
[PubMed - indexed for MEDLINE]
8.

Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA.

Limongelli A, Tiranti V.

Mitochondrion. 2002 Nov;2(1-2):39-46.

PMID:
16120307
[PubMed]
9.

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

González-Vioque E, Blázquez A, Fernández-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernández-Moreno MA, Garesse R, Arenas J, Martín MA.

Arch Neurol. 2006 Jan;63(1):107-11.

PMID:
16401742
[PubMed - indexed for MEDLINE]
10.

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]
11.

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J.

Eur J Hum Genet. 2003 Jul;11(7):547-9.

PMID:
12825077
[PubMed - indexed for MEDLINE]
Free Article
12.

The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease.

Sharer JD.

IUBMB Life. 2005 Sep;57(9):607-14. Review.

PMID:
16203679
[PubMed - indexed for MEDLINE]
13.

[Mitochondrial disease and mitochondrial DNA depletion syndromes].

Huang CC, Hsu CH.

Acta Neurol Taiwan. 2009 Dec;18(4):287-95. Review. Chinese.

PMID:
20329599
[PubMed - indexed for MEDLINE]
14.

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.

Wanrooij S, Luoma P, van Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN.

Nucleic Acids Res. 2004 Jun 4;32(10):3053-64. Print 2004.

PMID:
15181170
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.

Hirano M, Marti R, Ferreiro-Barros C, Vilà MR, Tadesse S, Nishigaki Y, Nishino I, Vu TH.

Semin Cell Dev Biol. 2001 Dec;12(6):417-27. Review.

PMID:
11735376
[PubMed - indexed for MEDLINE]
16.

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

Tyynismaa H, Sun R, Ahola-Erkkilä S, Almusa H, Pöyhönen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A.

Hum Mol Genet. 2012 Jan 1;21(1):66-75. doi: 10.1093/hmg/ddr438. Epub 2011 Sep 21.

PMID:
21937588
[PubMed - indexed for MEDLINE]
Free Article
17.

Disorders of nuclear-mitochondrial intergenomic signaling.

Spinazzola A, Zeviani M.

Gene. 2005 Jul 18;354:162-8. Review.

PMID:
15921863
[PubMed - indexed for MEDLINE]
18.

Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

Stuart GR, Santos JH, Strand MK, Van Houten B, Copeland WC.

Hum Mol Genet. 2006 Jan 15;15(2):363-74. Epub 2005 Dec 20.

PMID:
16368709
[PubMed - indexed for MEDLINE]
Free Article
19.

A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.

Komaki H, Fukazawa T, Houzen H, Yoshida K, Nonaka I, Goto Y.

Ann Neurol. 2002 May;51(5):645-8.

PMID:
12112115
[PubMed - indexed for MEDLINE]
20.

Defects of intergenomic communication: where do we stand?

Hirano M, Vu TH.

Brain Pathol. 2000 Jul;10(3):451-61. Review.

PMID:
10885664
[PubMed - indexed for MEDLINE]
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