PubMed (OMIM) for id: 7084

Year	Number of Results
1977	1
1983	1
1991	1
1992	1
1994	1
1997	1
1999	1
2001	2
2002	2
2003	3
2005	1
2006	1
2008	1
2009	1
2010	1
2011	1
2012	2
2013	1
2021	1
2024	0

1

Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency.

Lopez-Gomez C, Sanchez-Quintero MJ, Lee EJ, Kleiner G, Tadesse S, Xie J, Akman HO, Gao G, Hirano M. Lopez-Gomez C, et al. Ann Neurol. 2021 Oct;90(4):640-652. doi: 10.1002/ana.26185. Epub 2021 Aug 13. Ann Neurol. 2021. PMID: 34338329 Free PMC article.

2

TK2 mutation presenting as indolent myopathy.

Paradas C, Gutiérrez Ríos P, Rivas E, Carbonell P, Hirano M, DiMauro S. Paradas C, et al. Neurology. 2013 Jan 29;80(5):504-6. doi: 10.1212/WNL.0b013e31827f0ff7. Epub 2013 Jan 9. Neurology. 2013. PMID: 23303857 Free PMC article.

3

Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum.

Béhin A, Jardel C, Claeys KG, Fagart J, Louha M, Romero NB, Laforêt P, Eymard B, Lombès A. Béhin A, et al. Neurology. 2012 Feb 28;78(9):644-8. doi: 10.1212/WNL.0b013e318248df2b. Epub 2012 Feb 15. Neurology. 2012. PMID: 22345218

4

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

Tyynismaa H, Sun R, Ahola-Erkkilä S, Almusa H, Pöyhönen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A. Tyynismaa H, et al. Hum Mol Genet. 2012 Jan 1;21(1):66-75. doi: 10.1093/hmg/ddr438. Epub 2011 Sep 21. Hum Mol Genet. 2012. PMID: 21937588

5

Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration.

Bartesaghi S, Betts-Henderson J, Cain K, Dinsdale D, Zhou X, Karlsson A, Salomoni P, Nicotera P. Bartesaghi S, et al. Hum Mol Genet. 2010 May 1;19(9):1669-77. doi: 10.1093/hmg/ddq043. Epub 2010 Feb 1. Hum Mol Genet. 2010. PMID: 20123860 Free PMC article.

6

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.

Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H. Sato N, et al. Am J Hum Genet. 2009 Nov;85(5):544-57. doi: 10.1016/j.ajhg.2009.09.019. Epub 2009 Oct 29. Am J Hum Genet. 2009. PMID: 19878914 Free PMC article.

7

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

Akman HO, Dorado B, López LC, García-Cazorla A, Vilà MR, Tanabe LM, Dauer WT, Bonilla E, Tanji K, Hirano M. Akman HO, et al. Hum Mol Genet. 2008 Aug 15;17(16):2433-40. doi: 10.1093/hmg/ddn143. Epub 2008 May 8. Hum Mol Genet. 2008. PMID: 18467430 Free PMC article.

8

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.

Oskoui M, Davidzon G, Pascual J, Erazo R, Gurgel-Giannetti J, Krishna S, Bonilla E, De Vivo DC, Shanske S, DiMauro S. Oskoui M, et al. Arch Neurol. 2006 Aug;63(8):1122-6. doi: 10.1001/archneur.63.8.1122. Arch Neurol. 2006. PMID: 16908738 Review.

9

Mitochondrial DNA copy number threshold in mtDNA depletion myopathy.

Durham SE, Bonilla E, Samuels DC, DiMauro S, Chinnery PF. Durham SE, et al. Neurology. 2005 Aug 9;65(3):453-5. doi: 10.1212/01.wnl.0000171861.30277.88. Neurology. 2005. PMID: 16087914

10

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.

Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S. Mancuso M, et al. Arch Neurol. 2003 Jul;60(7):1007-9. doi: 10.1001/archneur.60.7.1007. Arch Neurol. 2003. PMID: 12873860

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

22 results

Results by year