Similar articles for PMID: 19664747

Year	Number of Results
1993	1
1995	3
1996	4
1997	3
1998	2
1999	3
2000	4
2001	6
2002	5
2003	7
2004	8
2005	4
2006	6
2007	4
2008	10
2009	14
2010	18
2011	14
2012	10
2013	11
2014	6
2015	6
2016	2
2017	6
2018	4
2019	4
2020	8
2021	5
2022	10
2023	2
2024	0

1

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. Tyynismaa H, et al. Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009. Epub 2009 Aug 6. Am J Hum Genet. 2009. PMID: 19664747 Free PMC article.

2

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

Van Goethem G, Martin JJ, Van Broeckhoven C. Van Goethem G, et al. Acta Neurol Belg. 2002 Mar;102(1):39-42. Acta Neurol Belg. 2002. PMID: 12094562 Review.

3

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chrétien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rötig A. Bourdon A, et al. Nat Genet. 2007 Jun;39(6):776-80. doi: 10.1038/ng2040. Epub 2007 May 7. Nat Genet. 2007. PMID: 17486094

4

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia.

Takata A, Kato M, Nakamura M, Yoshikawa T, Kanba S, Sano A, Kato T. Takata A, et al. Genome Biol. 2011 Sep 28;12(9):R92. doi: 10.1186/gb-2011-12-9-r92. Genome Biol. 2011. PMID: 21951382 Free PMC article.

5

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.

Pitceathly RD, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S. Pitceathly RD, et al. J Med Genet. 2011 Sep;48(9):610-7. doi: 10.1136/jmg.2010.088328. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378381

6

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. Virgilio R, et al. J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30. J Neurol. 2008. PMID: 18575922

7

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Hudson G, et al. Brain. 2008 Feb;131(Pt 2):329-37. doi: 10.1093/brain/awm272. Epub 2007 Dec 7. Brain. 2008. PMID: 18065439

8

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.

Rodríguez-López C, García-Cárdaba LM, Blázquez A, Serrano-Lorenzo P, Gutiérrez-Gutiérrez G, San Millán-Tejado B, Muelas N, Hernández-Laín A, Vílchez JJ, Gutiérrez-Rivas E, Arenas J, Martín MA, Domínguez-González C. Rodríguez-López C, et al. J Med Genet. 2020 Sep;57(9):643-646. doi: 10.1136/jmedgenet-2019-106649. Epub 2020 Mar 11. J Med Genet. 2020. PMID: 32161153

9

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.

Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW. Fratter C, et al. Neurology. 2011 Jun 7;76(23):2032-4. doi: 10.1212/WNL.0b013e31821e558b. Neurology. 2011. PMID: 21646632 Free PMC article. No abstract available.

10

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.

Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF. Longley MJ, et al. Am J Hum Genet. 2006 Jun;78(6):1026-34. doi: 10.1086/504303. Epub 2006 May 4. Am J Hum Genet. 2006. PMID: 16685652 Free PMC article.

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