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Items: 1 to 20 of 82

1.

POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family.

Gurgel-Giannetti J, Camargos ST, Cardoso F, Hirano M, DiMauro S.

Muscle Nerve. 2012 Mar;45(3):453-4. doi: 10.1002/mus.22330. No abstract available.

PMID:
22334187
2.

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
3.

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
4.

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
5.

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.

Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF.

Arch Neurol. 2007 Apr;64(4):553-7.

PMID:
17420318
6.

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
7.

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
8.

Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.

Dolhun R, Presant EM, Hedera P.

BMC Neurol. 2013 Jul 18;13:92. doi: 10.1186/1471-2377-13-92.

9.

Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.

Jackson CB, Neuwirth C, Hahn D, Nuoffer JM, Frank S, Gallati S, Schaller A.

Br J Ophthalmol. 2014 Oct;98(10):1453-9. doi: 10.1136/bjophthalmol-2014-305300. Epub 2014 Jul 17.

PMID:
25034047
10.

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.

11.

Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C mutation in POLG1.

Mukai M, Sugaya K, Yabe I, Goto Y, Yokochi F, Miyamoto K, Cai H, Sasaki H, Matsubara S.

Parkinsonism Relat Disord. 2013 Sep;19(9):821-4. doi: 10.1016/j.parkreldis.2013.04.011. Epub 2013 May 11.

PMID:
23673011
12.

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
13.

Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy.

Hisama FM, Mancuso M, Filosto M, DiMauro S.

Am J Med Genet A. 2005 Jun 1;135(2):217-9. No abstract available.

PMID:
15800909
14.

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia.

Takata A, Kato M, Nakamura M, Yoshikawa T, Kanba S, Sano A, Kato T.

Genome Biol. 2011 Sep 28;12(9):R92. doi: 10.1186/gb-2011-12-9-r92.

15.

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.

16.

[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
17.

SANDO: two novel mutations in POLG1 gene.

Gago MF, Rosas MJ, Guimarães J, Ferreira M, Vilarinho L, Castro L, Carpenter S.

Neuromuscul Disord. 2006 Aug;16(8):507-9. Epub 2006 Aug 21.

PMID:
16919951
18.

Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene.

Pietrini V, Marbini A, Galli L, Sorrentino V.

J Neurol. 2004 Jan;251(1):102-4. No abstract available.

PMID:
14999498
19.

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
20.

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