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Items: 1 to 20 of 289

1.

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
2.

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
3.

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
4.

[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
5.

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
6.

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.

Tzoulis C, Tran GT, Schwarzlmüller T, Specht K, Haugarvoll K, Balafkan N, Lilleng PK, Miletic H, Biermann M, Bindoff LA.

Brain. 2013 Aug;136(Pt 8):2393-404. doi: 10.1093/brain/awt103. Epub 2013 Apr 26.

PMID:
23625061
7.

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
8.

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
9.

Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients.

Brandon BR, Diederich NJ, Soni M, Witte K, Weinhold M, Krause M, Jackson S.

J Neurol. 2013 Jul;260(7):1931-3. doi: 10.1007/s00415-013-6975-2. Epub 2013 May 30. No abstract available.

PMID:
23719791
10.

A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.

Mancuso M, Filosto M, Oh SJ, DiMauro S.

Arch Neurol. 2004 Nov;61(11):1777-9.

PMID:
15534189
11.

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
12.

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
13.

Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art.

Kiferle L, Orsucci D, Mancuso M, Lo Gerfo A, Petrozzi L, Siciliano G, Ceravolo R, Bonuccelli U.

Neurosci Lett. 2013 Nov 27;556:1-4. doi: 10.1016/j.neulet.2013.09.034. Epub 2013 Sep 26. Review.

PMID:
24076137
14.

The unfolding clinical spectrum of POLG mutations.

Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J, de Coo IF, Smeets HJ.

J Med Genet. 2009 Nov;46(11):776-85. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2.

PMID:
19578034
15.

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C.

Neurology. 2004 Oct 12;63(7):1251-7.

PMID:
15477547
16.

[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

Posada IJ, Gallardo ME, Domínguez C, Rivera H, Cabello A, Arenas J, Martín MA, Garesse R, Bornstein B.

Med Clin (Barc). 2010 Oct 2;135(10):452-5. doi: 10.1016/j.medcli.2010.03.031. Epub 2010 Jun 23. Spanish.

PMID:
20576279
17.

Syndromic parkinsonism and dementia associated with OPA1 missense mutations.

Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AM, Rugolo M, Valentino ML, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EM, Patergnani S, Giorgi C, Pinton P, Rizzo G, Tonon C, Lodi R, Avoni P, Liguori R, Baruzzi A, Toscano A, Zeviani M.

Ann Neurol. 2015 Jul;78(1):21-38. doi: 10.1002/ana.24410. Epub 2015 Jun 10.

18.

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
19.

SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.

Hanisch F, Kornhuber M, Alston CL, Taylor RW, Deschauer M, Zierz S.

J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):630-4. doi: 10.1136/jnnp-2013-306748. Epub 2014 Aug 20.

PMID:
25143630
20.

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

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