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Items: 1 to 20 of 123

1.

Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy.

Martikainen MH, Hinttala R, Majamaa K.

BMJ Case Rep. 2010 Sep 29;2010. pii: bcr0120102604. doi: 10.1136/bcr.01.2010.2604.

2.

Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations.

Tzoulis C, Papingji M, Fiskestrand T, Røste LS, Bindoff LA.

Acta Neurol Scand Suppl. 2009;(189):38-41. doi: 10.1111/j.1600-0404.2009.01212.x.

PMID:
19566497
3.

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF.

Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10.

4.

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.

5.
6.

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C.

Neuromuscul Disord. 2003 Feb;13(2):133-42.

PMID:
12565911
7.

[Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].

Mukai M, Sugaya K, Matsubara S, Cai H, Yabe I, Sasaki H, Nakano I.

Rinsho Shinkeigaku. 2014;54(5):417-22. Review. Japanese.

PMID:
24943079
8.

Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

Paus S, Zsurka G, Baron M, Deschauer M, Bamberg C, Klockgether T, Kunz WS, Kornblum C.

Mov Disord. 2008 Jul 15;23(9):1286-8. doi: 10.1002/mds.22135.

PMID:
18546343
9.

A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.

Santoro L, Manganelli F, Lanzillo R, Tessa A, Barbieri F, Pierelli F, Di Giacinto G, Nigro V, Santorelli FM.

J Neurol. 2006 Jul;253(7):869-74. Epub 2006 May 24.

PMID:
16715201
10.

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
11.

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, Livingston JH, McFarland R, Turnbull DM, Chinnery PF, Taylor RW.

J Med Genet. 2009 Mar;46(3):209-14. doi: 10.1136/jmg.2008.058180.

PMID:
19251978
12.

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.

13.

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
14.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF.

Brain. 2006 Jul;129(Pt 7):1674-84. Epub 2006 Apr 18.

PMID:
16621917
15.

Early-onset familial parkinsonism due to POLG mutations.

Davidzon G, Greene P, Mancuso M, Klos KJ, Ahlskog JE, Hirano M, DiMauro S.

Ann Neurol. 2006 May;59(5):859-62.

PMID:
16634032
16.

Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.

Sato K, Yabe I, Yaguchi H, Nakano F, Kunieda Y, Saitoh S, Sasaki H.

J Neurol. 2011 Jul;258(7):1327-32. doi: 10.1007/s00415-011-5936-x. Epub 2011 Feb 8.

PMID:
21301859
17.

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].

Roos S, Macao B, Fusté JM, Lindberg C, Jemt E, Holme E, Moslemi AR, Oldfors A, Falkenberg M.

Hum Mol Genet. 2013 Jun 15;22(12):2411-22. doi: 10.1093/hmg/ddt094. Epub 2013 Feb 27. Erratum in: Hum Mol Genet. 2013 Dec 20;22(25):5295.

PMID:
23446635
18.

POLG mutations associated with remitting/relapsing neurological events.

Degos B, Laforêt P, Jardel C, Sedel F, Jossay-Winter M, Romero NB, Lyon-Caen O, Tourbah A.

J Clin Neurosci. 2014 Jan;21(1):186-8. doi: 10.1016/j.jocn.2013.03.019. Epub 2013 Jul 2.

PMID:
23830586
19.

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.

20.

Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.

Invernizzi F, Varanese S, Thomas A, Carrara F, Onofrj M, Zeviani M.

Neuromuscul Disord. 2008 Jun;18(6):460-4. doi: 10.1016/j.nmd.2008.04.005. Epub 2008 May 27.

PMID:
18502641

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