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Items: 1 to 20 of 151

1.

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
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
3.

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
4.

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
5.

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
6.

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
7.

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.

8.

Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.

Bohlega S, Van Goethem G, Al Semari A, Löfgren A, Al Hamed M, Van Broeckhoven C, Kambouris M.

Neuromuscul Disord. 2009 Dec;19(12):845-8. doi: 10.1016/j.nmd.2009.10.002. Epub 2009 Oct 22.

PMID:
19853444
9.

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
10.

A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.

Liu Z, Ding Y, Du A, Zhang B, Zhao G, Ding M.

Mol Vis. 2008;14:1995-2001. Epub 2008 Nov 3.

11.

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.

12.

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
13.

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
14.

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
15.

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
16.

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
17.

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

Sarzi E, Goffart S, Serre V, Chrétien D, Slama A, Munnich A, Spelbrink JN, Rötig A.

Ann Neurol. 2007 Dec;62(6):579-87.

PMID:
17722119
18.

Phenotype and clinical course in a family with a new de novo Twinkle gene mutation.

Jeppesen TD, Schwartz M, Colding-Jørgensen E, Krag T, Hauerslev S, Vissing J.

Neuromuscul Disord. 2008 Apr;18(4):306-9. doi: 10.1016/j.nmd.2007.10.007.

PMID:
18396044
19.

Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia.

Korhonen JA, Pande V, Holmlund T, Farge G, Pham XH, Nilsson L, Falkenberg M.

J Mol Biol. 2008 Mar 28;377(3):691-705. doi: 10.1016/j.jmb.2008.01.035. Epub 2008 Jan 26.

PMID:
18279890
20.

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A.

Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009. Epub 2009 Aug 6.

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