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Items: 1 to 20 of 418

1.

Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.

Kollberg G, Jansson M, Pérez-Bercoff A, Melberg A, Lindberg C, Holme E, Moslemi AR, Oldfors A.

Eur J Hum Genet. 2005 Apr;13(4):463-9.

2.

Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients.

Laforêt P, Lombès A, Eymard B, Danan C, Chevallay M, Rouche A, Frachon P, Fardeau M.

Neuromuscul Disord. 1995 Sep;5(5):399-413.

PMID:
7496174
3.

Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain.

Del Bo R, Bordoni A, Sciacco M, Di Fonzo A, Galbiati S, Crimi M, Bresolin N, Comi GP.

Neurology. 2003 Oct 14;61(7):903-8.

PMID:
14557557
4.

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
5.

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
6.

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

Cardaioli E, Da Pozzo P, Gallus GN, Malandrini A, Gambelli S, Gaudiano C, Malfatti E, Viscomi C, Zicari E, Berti G, Serni G, Dotti MT, Federico A.

Neuromuscul Disord. 2007 Oct;17(9-10):681-3. Epub 2007 Jul 5.

PMID:
17614276
7.

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
8.

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
9.

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M.

Neurology. 2003 Apr 22;60(8):1354-6.

PMID:
12707443
10.

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia.

Kornblum C, Zsurka G, Wiesner RJ, Schröder R, Kunz WS.

Biosci Rep. 2008 Apr;28(2):89-96. doi: 10.1042/BSR20080004.

PMID:
18384291
11.

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
12.

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
14.

Progressive external ophthalmoplegia in southwestern Finland: a clinical and genetic study.

Martikainen MH, Hinttala R, Röyttä M, Jääskeläinen S, Wendelin-Saarenhovi M, Parkkola R, Majamaa K.

Neuroepidemiology. 2012;38(2):114-9. doi: 10.1159/000336112. Epub 2012 Feb 24.

PMID:
22377773
15.

Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma.

Zsurka G, Baron M, Stewart JD, Kornblum C, Bös M, Sassen R, Taylor RW, Elger CE, Chinnery PF, Kunz WS.

J Neuropathol Exp Neurol. 2008 Sep;67(9):857-66. doi: 10.1097/NEN.0b013e3181839b2d.

PMID:
18716558
16.

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.

Ponamarev MV, Longley MJ, Nguyen D, Kunkel TA, Copeland WC.

J Biol Chem. 2002 May 3;277(18):15225-8. Epub 2002 Mar 15.

17.
18.

[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
19.

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
20.

Analysis of mtDNA deletions in muscle by in situ hybridization.

Vu TH, Tanji K, Pallotti F, Golzi V, Hirano M, DiMauro S, Bonilla E.

Muscle Nerve. 2000 Jan;23(1):80-5.

PMID:
10590409

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