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Results: 1 to 20 of 208

Similar articles for PubMed (Select 12073019)

1.

D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion?

Barthélémy C, de Baulny HO, Lombès A.

Hum Genet. 2002 May;110(5):479-87. Epub 2002 Apr 11.

PMID:
12073019
2.

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function.

Fayet G, Jansson M, Sternberg D, Moslemi AR, Blondy P, Lombès A, Fardeau M, Oldfors A.

Neuromuscul Disord. 2002 Jun;12(5):484-93.

PMID:
12031622
3.

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients.

Del Bo R, Bordoni A, Martinelli Boneschi F, Crimi M, Sciacco M, Bresolin N, Scarlato G, Comi GP.

J Neurol Sci. 2002 Oct 15;202(1-2):85-91.

PMID:
12220698
4.

POLG1 mutations associated with progressive encephalopathy in childhood.

Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A.

J Neuropathol Exp Neurol. 2006 Aug;65(8):758-68.

PMID:
16896309
5.

Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.

Auré K, Fayet G, Leroy JP, Lacène E, Romero NB, Lombès A.

Brain. 2006 May;129(Pt 5):1249-59. Epub 2006 Mar 14.

6.

Disorders associated with multiple deletions of mitochondrial DNA.

Haltia M, Suomalainen A, Majander A, Somer H.

Brain Pathol. 1992 Apr;2(2):133-9. Review.

PMID:
1341954
7.

Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy.

Ozawa T, Yoneda M, Tanaka M, Ohno K, Sato W, Suzuki H, Nishikimi M, Yamamoto M, Nonaka I, Horai S.

Biochem Biophys Res Commun. 1988 Aug 15;154(3):1240-7.

PMID:
2841928
8.

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.

Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S.

Nature. 1989 May 25;339(6222):309-11.

PMID:
2725645
9.

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Swalwell H, Blakely EL, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns DK, Turnbull DM, Haller RG, Davidson MM, Taylor RW.

Eur J Hum Genet. 2008 Oct;16(10):1265-74. doi: 10.1038/ejhg.2008.65. Epub 2008 Apr 9.

10.

Mitochondria and ageing.

Müller-Höcker J.

Brain Pathol. 1992 Apr;2(2):149-58. Review.

PMID:
1341956
11.

Clinical manifestations of mitochondrial DNA depletion.

Vu TH, Sciacco M, Tanji K, Nichter C, Bonilla E, Chatkupt S, Maertens P, Shanske S, Mendell J, Koenigsberger MR, Sharer L, Schon EA, DiMauro S, DeVivo DC.

Neurology. 1998 Jun;50(6):1783-90.

PMID:
9633728
12.

Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases.

Kawai H, Akaike M, Yokoi K, Nishida Y, Kunishige M, Mine H, Saito S.

Muscle Nerve. 1995 Jul;18(7):753-60. Review.

PMID:
7783765
13.

Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.

Sciacco M, Gasparo-Rippa P, Vu TH, Tanji K, Shanske S, Mendell JR, Schon EA, DiMauro S, Bonilla E.

Muscle Nerve. 1998 Nov;21(11):1374-81.

PMID:
9771659
14.
15.

Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.

Bohlega S, Tanji K, Santorelli FM, Hirano M, al-Jishi A, DiMauro S.

Neurology. 1996 May;46(5):1329-34.

PMID:
8628476
16.

Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers.

Bua E, Johnson J, Herbst A, Delong B, McKenzie D, Salamat S, Aiken JM.

Am J Hum Genet. 2006 Sep;79(3):469-80. Epub 2006 Jul 7.

18.
19.

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.

Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A.

Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub 2008 Sep 26.

20.

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.

Zeviani M, Bresolin N, Gellera C, Bordoni A, Pannacci M, Amati P, Moggio M, Servidei S, Scarlato G, DiDonato S.

Am J Hum Genet. 1990 Dec;47(6):904-14.

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