Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 88

1.

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

Walter MC, Czermin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmüller H, Chinnery PF, Klopstock T, Horvath R.

J Neurol. 2010 Sep;257(9):1517-23. doi: 10.1007/s00415-010-5565-9. Epub 2010 Apr 20.

PMID:
20405137
2.

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
3.

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
4.

Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

Ferraris S, Clark S, Garelli E, Davidzon G, Moore SA, Kardon RH, Bienstock RJ, Longley MJ, Mancuso M, Gutiérrez Ríos P, Hirano M, Copeland WC, DiMauro S.

Arch Neurol. 2008 Jan;65(1):125-31. doi: 10.1001/archneurol.2007.9.

5.

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
6.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R.

Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298.

7.

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS.

Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29.

8.

Novel POLG splice site mutation and optic atrophy.

Milone M, Wang J, Liewluck T, Chen LC, Leavitt JA, Wong LJ.

Arch Neurol. 2011 Jun;68(6):806-11. doi: 10.1001/archneurol.2011.124. Erratum in: Arch Neurol. 2011 Nov;68(11):1446. Arch Neurol. 2011 Aug;68(8):1084.

PMID:
21670405
9.

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S.

Arch Neurol. 2003 Sep;60(9):1279-84.

PMID:
12975295
10.

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.

11.

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.

Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M, Zheng L, Filosto M, Ferrò MT, Ranieri M, Magri F, Peverelli L, Li H, Yuan YC, Corti S, Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP.

Am J Hum Genet. 2013 Feb 7;92(2):293-300. doi: 10.1016/j.ajhg.2012.12.014. Epub 2013 Jan 24.

12.

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.

Milone M, Brunetti-Pierri N, Tang LY, Kumar N, Mezei MM, Josephs K, Powell S, Simpson E, Wong LJ.

Neuromuscul Disord. 2008 Aug;18(8):626-32. doi: 10.1016/j.nmd.2008.05.009. Epub 2008 Jun 27.

PMID:
18585914
13.

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

Naïmi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rötig A, Munnich A, Calvas P, Richelme C, Jonveaux P, Castelnovo G, Simon M, Clanet M, Wallace D, Paquis-Flucklinger V.

Eur J Hum Genet. 2006 Aug;14(8):917-22. Epub 2006 Apr 26. Erratum in: Eur J Hum Genet. 2007 May;15(5):607. Simon, Melvin [corrected to Simon, Mariella].

14.

SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia.

Park KP, Kim HS, Kim ES, Park YE, Lee CH, Kim DS.

J Clin Neurol. 2011 Mar;7(1):25-30. doi: 10.3988/jcn.2011.7.1.25. Epub 2011 Mar 31.

15.

Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.

Echaniz-Laguna A, Chassagne M, Ceresuela J, Rouvet I, Padet S, Acquaviva C, Nataf S, Vinzio S, Bozon D, Mousson de Camaret B.

J Med Genet. 2012 Feb;49(2):146-50. doi: 10.1136/jmedgenet-2011-100504. Epub 2011 Dec 20.

PMID:
22187496
16.

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
17.

Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

Da Pozzo P, Rubegni A, Rufa A, Cardaioli E, Taglia I, Gallus GN, Malandrini A, Federico A.

Neurol Sci. 2015 Sep;36(9):1713-5. doi: 10.1007/s10072-015-2247-5. Epub 2015 Jun 7.

PMID:
26050231
18.

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.

Cohen BH, Naviaux RK.

Methods. 2010 Aug;51(4):364-73. doi: 10.1016/j.ymeth.2010.05.008. Epub 2010 Jun 15. Review.

PMID:
20558295
19.

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Komulainen T, Hinttala R, Kärppä M, Pajunen L, Finnilä S, Tuominen H, Rantala H, Hassinen I, Majamaa K, Uusimaa J.

BMC Neurol. 2010 May 3;10:29. doi: 10.1186/1471-2377-10-29.

20.

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.

Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S315-9. doi: 10.1007/s10545-010-9169-4. Epub 2010 Jul 21.

PMID:
20652410
Items per page

Supplemental Content

Write to the Help Desk