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Items: 1 to 20 of 22

1.

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
2.

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
3.

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
4.

Consequences of mutations in human DNA polymerase gamma.

Longley MJ, Graziewicz MA, Bienstock RJ, Copeland WC.

Gene. 2005 Jul 18;354:125-31. Review.

PMID:
15913923
5.

[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
6.

Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders.

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

Acta Biochim Pol. 2003;50(1):155-67. Review.

7.

Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene.

Delgado-Alvarado M, de la Riva P, Jiménez-Urbieta H, Gago B, Gabilondo A, Bornstein B, Rodríguez-Oroz MC.

J Neurol Sci. 2015 Mar 15;350(1-2):93-7. doi: 10.1016/j.jns.2015.02.011. Epub 2015 Feb 11. Review.

PMID:
25724872
8.
9.

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

Martin-Negrier ML, Sole G, Jardel C, Vital C, Ferrer X, Vital A.

Eur J Neurol. 2011 Mar;18(3):436-41. doi: 10.1111/j.1468-1331.2010.03171.x. Epub 2010 Sep 29. Review.

PMID:
20880070
10.

Polymerase gamma 1 mutations: clinical correlations.

Milone M, Massie R.

Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. Review.

PMID:
20220442
11.

[Autosomal dominant chronic progressive external ophthalmoplegia].

Higuchi I, Nakagawa M.

Nihon Rinsho. 2002 Apr;60 Suppl 4:450-4. Review. Japanese. No abstract available.

PMID:
12013910
12.

[Association of progressive external ophthalmoplegia and lattice corneal dystrophy].

Petroutsos G, Kitsos G, Asproudis I, Melissourgos I, Psilas K.

J Fr Ophtalmol. 1992;15(11):592-5. Review. French.

PMID:
1298770
13.

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

Scuderi C, Borgione E, Castello F, Lo Giudice M, Santa Paola S, Giambirtone M, Di Blasi FD, Elia M, Amato C, Città S, Gagliano C, Barbarino G, Vitello GA, Musumeci SA.

Neuromuscul Disord. 2015 Apr;25(4):333-9. doi: 10.1016/j.nmd.2015.01.004. Epub 2015 Jan 19. Review.

PMID:
25660390
14.

Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes.

Shoubridge EA.

Ann Neurol. 1996 Nov;40(5):693-4. Review. No abstract available.

PMID:
8957008
15.

Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature.

Caballero PE, Candela MS, Alvarez CI, Tejerina AA.

Neurologist. 2007 Jan;13(1):33-6. Review.

PMID:
17215725
16.

[ANT1, twinkle, POLG mutation].

Komaki H, Goto Y.

Nihon Rinsho. 2002 Apr;60 Suppl 4:353-6. Review. Japanese. No abstract available.

PMID:
12013885
17.

POLG1-related levodopa-responsive parkinsonism.

Miguel R, Gago MF, Martins J, Barros P, Vale J, Rosas MJ.

Clin Neurol Neurosurg. 2014 Nov;126:47-54. doi: 10.1016/j.clineuro.2014.08.020. Epub 2014 Aug 23. Review.

PMID:
25203713
18.

POLG1-related and other "mitochondrial Parkinsonisms": an overview.

Orsucci D, Caldarazzo Ienco E, Mancuso M, Siciliano G.

J Mol Neurosci. 2011 May;44(1):17-24. doi: 10.1007/s12031-010-9488-9. Epub 2011 Jan 8. Review.

PMID:
21221844
19.

[Progressive nuclear external ophthalmoplegia].

Preoteasa D.

Oftalmologia. 1993 Oct-Dec;37(4):326-31. Review. Romanian.

PMID:
8286317
20.

[Chronic progressive external ophthalmoplegia: clinical and electromyographic manifestations in a series of cases].

Jiménez-Caballero PE, Serviá M, Cabeza CI, Marsal-Alonso C, Alvarez-Tejerina A.

Rev Neurol. 2006 Dec 16-31;43(12):724-8. Review. Spanish.

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