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Items: 1 to 20 of 35

1.

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
2.

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
3.

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
5.

POLG-Related Disorders.

Cohen BH, Chinnery PF, Copeland WC.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2010 Mar 16 [updated 2014 Dec 18].

6.

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
7.
8.

Autosomal disorders of mitochondrial DNA maintenance.

Van Goethem G.

Acta Neurol Belg. 2006 Jun;106(2):66-72. Review.

PMID:
16898256
9.

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
10.

Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.

Kinghorn KJ, Kaliakatsos M, Blakely EL, Taylor RW, Rich P, Clarke A, Omer S.

J Neurol. 2013 Jan;260(1):3-9. doi: 10.1007/s00415-012-6564-9. Epub 2012 Jun 24. Review.

PMID:
22729384
11.

Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

Van Hove JL, Cunningham V, Rice C, Ringel SP, Zhang Q, Chou PC, Truong CK, Wong LJ.

Am J Med Genet A. 2009 May;149A(5):861-7. doi: 10.1002/ajmg.a.32731. Review.

PMID:
19353676
12.

[SANDO (sensory ataxic neuropathy, dysarthria, and ophthalmoplegia)].

Goto Y.

Ryoikibetsu Shokogun Shirizu. 2001;(36):172. Review. Japanese. No abstract available.

PMID:
11596360
13.

[MNGIE syndrome in 2 siblings].

Debouverie M, Wagner M, Ducrocq X, Grignon Y, Mousson B, Weber M.

Rev Neurol (Paris). 1997 Oct;153(10):547-53. Review. French.

PMID:
9684018
14.

[ANT1, twinkle, POLG mutation].

Komaki H, Goto Y.

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

PMID:
12013885
15.

[ARCO (autosomal recessive cardiomyopathy and ophthalmoplegia)].

Goto Y.

Ryoikibetsu Shokogun Shirizu. 2001;(36):170-1. Review. Japanese. No abstract available.

PMID:
11596359
16.

[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
17.

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
18.

[Autosomal recessive chronic progressive external ophthalmoplegia].

Inose M, Higuchi I.

Nihon Rinsho. 2002 Apr;60 Suppl 4:455-7. Review. Japanese. No abstract available.

PMID:
12013911
19.

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
20.

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

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