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Results: 1 to 20 of 106

1.

Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle.

Milone M, Klassen BT, Landsverk ML, Haas RH, Wong LJ.

JAMA Neurol. 2013 Nov;70(11):1429-31. doi: 10.1001/jamaneurol.2013.3521.

PMID:
24061067
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.

Ronchi D, Fassone E, Bordoni A, Sciacco M, Lucchini V, Di Fonzo A, Rizzuti M, Colombo I, Napoli L, Ciscato P, Moggio M, Cosi A, Collotta M, Corti S, Bresolin N, Comi GP.

J Neurol Sci. 2011 Sep 15;308(1-2):173-6. doi: 10.1016/j.jns.2011.05.042.

PMID:
21689831
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

[Mitochondrial encephalomyopathy of late presentation with progressive ophthalmoplegia, tremor and diffuse leukoencephalopathy].

Franco E, Bautista J, Luque R, Chinchón I, García-Lozano R, Aguilera I, Campos Y, Arenas J.

Neurologia. 1999 Nov;14(9):463-6. Spanish.

PMID:
10613022
[PubMed - indexed for MEDLINE]
5.

Two families with autosomal dominant progressive external ophthalmoplegia.

Kiechl S, Horváth R, Luoma P, Kiechl-Kohlendorfer U, Wallacher-Scholz B, Stucka R, Thaler C, Wanschitz J, Suomalainen A, Jaksch M, Willeit J.

J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1125-8.

PMID:
15258213
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.

Baloh RH, Salavaggione E, Milbrandt J, Pestronk A.

Arch Neurol. 2007 Jul;64(7):998-1000.

PMID:
17620490
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

A novel variation in the Twinkle linker region causing late-onset dementia.

Echaniz-Laguna A, Chanson JB, Wilhelm JM, Sellal F, Mayençon M, Mohr M, Tranchant C, Mousson de Camaret B.

Neurogenetics. 2010 Feb;11(1):21-5. doi: 10.1007/s10048-009-0202-4. Epub 2009 Jun 10.

PMID:
19513767
[PubMed - indexed for MEDLINE]
11.

Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.

Negro R, Zoccolella S, Dell'aglio R, Amati A, Artuso L, Bisceglia L, Lavolpe V, Papa S, Serlenga L, Petruzzella V.

Neuromuscul Disord. 2009 Jun;19(6):423-6. doi: 10.1016/j.nmd.2009.04.008. Epub 2009 May 9.

PMID:
19428252
[PubMed - indexed for MEDLINE]
12.

Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.

Ji K, Liu K, Lin P, Wen B, Luo YB, Zhao Y, Yan C.

Neurol Sci. 2014 Mar;35(3):443-8. doi: 10.1007/s10072-013-1557-8. Epub 2013 Oct 4.

PMID:
24091712
[PubMed - indexed for MEDLINE]
13.

Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene.

Hong D, Bi H, Yao S, Wang Z, Yuan Y.

Muscle Nerve. 2010 Jan;41(1):92-9. doi: 10.1002/mus.21439.

PMID:
19705478
[PubMed - indexed for MEDLINE]
14.

Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation.

Vandenberghe W, Van Laere K, Debruyne F, Van Broeckhoven C, Van Goethem G.

Mov Disord. 2009 Jan 30;24(2):308-9. doi: 10.1002/mds.22198. No abstract available.

PMID:
18973250
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.

Goffart S, Cooper HM, Tyynismaa H, Wanrooij S, Suomalainen A, Spelbrink JN.

Hum Mol Genet. 2009 Jan 15;18(2):328-40. doi: 10.1093/hmg/ddn359. Epub 2008 Oct 29.

PMID:
18971204
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis.

Gonzalez-Moron D, Bueri J, Kauffman MA.

BMJ Case Rep. 2013 Sep 7;2013. pii: bcr2013010181. doi: 10.1136/bcr-2013-010181.

PMID:
24014582
[PubMed - indexed for MEDLINE]
18.

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.

Van Goethem G, Löfgren A, Dermaut B, Ceuterick C, Martin JJ, Van Broeckhoven C.

Hum Mutat. 2003 Aug;22(2):175-6. No abstract available.

PMID:
12872260
[PubMed - indexed for MEDLINE]
19.

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP.

J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30.

PMID:
18575922
[PubMed - indexed for MEDLINE]
20.

Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.

Rivera H, Blázquez A, Carretero J, Alvarez-Cermeño JC, Campos Y, Cabello A, Gonzalez-Vioque E, Borstein B, Garesse R, Arenas J, Martín MA.

Neuromuscul Disord. 2007 Oct;17(9-10):677-80. Epub 2007 Jul 5.

PMID:
17614277
[PubMed - indexed for MEDLINE]
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