Similar articles for PMID: 12557300

Year	Number of Results
1993	1
1996	3
1998	1
1999	1
2000	1
2001	6
2002	6
2003	7
2004	6
2005	4
2006	3
2007	4
2008	6
2009	7
2010	3
2011	1
2013	4
2014	2
2015	3
2016	2
2017	2
2018	3
2019	1
2024	0

1

The V368i mutation in Twinkle does not segregate with AdPEO.

Arenas J, Briem E, Dahl H, Hutchison W, Lewis S, Martin MA, Spelbrink H, Tiranti V, Jacobs H, Zeviani M. Arenas J, et al. Ann Neurol. 2003 Feb;53(2):278. doi: 10.1002/ana.10430. Ann Neurol. 2003. PMID: 12557300 No abstract available.

2

A helicase is born.

Moraes CT. Moraes CT. Nat Genet. 2001 Jul;28(3):200-1. doi: 10.1038/90020. Nat Genet. 2001. PMID: 11431681

3

Clinical and molecular features of adPEO due to mutations in the Twinkle gene.

Lewis S, Hutchison W, Thyagarajan D, Dahl HH. Lewis S, et al. J Neurol Sci. 2002 Sep 15;201(1-2):39-44. doi: 10.1016/s0022-510x(02)00190-9. J Neurol Sci. 2002. PMID: 12163192

4

[ANT1, twinkle, POLG mutation].

Komaki H, Goto Y. Komaki H, et al. Nihon Rinsho. 2002 Apr;60 Suppl 4:353-6. Nihon Rinsho. 2002. PMID: 12013885 Review. Japanese. No abstract available.

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. Kiechl S, et al. J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1125-8. doi: 10.1136/jnnp.2003.025890. J Neurol Neurosurg Psychiatry. 2004. PMID: 15258213 Free PMC article.

6

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M, Larsson C. Spelbrink JN, et al. Nat Genet. 2001 Jul;28(3):223-31. doi: 10.1038/90058. Nat Genet. 2001. PMID: 11431692

7

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. Van Goethem G, et al. Hum Mutat. 2003 Aug;22(2):175-6. doi: 10.1002/humu.10246. Hum Mutat. 2003. PMID: 12872260 No abstract available.

8

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. Agostino A, et al. Neurology. 2003 Apr 22;60(8):1354-6. doi: 10.1212/01.wnl.0000056088.09408.3c. Neurology. 2003. PMID: 12707443

9

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. Korhonen JA, et al. J Mol Biol. 2008 Mar 28;377(3):691-705. doi: 10.1016/j.jmb.2008.01.035. Epub 2008 Jan 26. J Mol Biol. 2008. PMID: 18279890

10

Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.

Peter B, Farge G, Pardo-Hernandez C, Tångefjord S, Falkenberg M. Peter B, et al. Hum Mol Genet. 2019 Apr 1;28(7):1090-1099. doi: 10.1093/hmg/ddy415. Hum Mol Genet. 2019. PMID: 30496414 Free PMC article.

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