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A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.
Rahman S, Canny MD, Buschmann TA, Latham MP. Rahman S, et al. Cells. 2020 Jul 13;9(7):1678. doi: 10.3390/cells9071678. Cells. 2020. PMID: 32668560 Free PMC article. Review.
Here, we discuss, in a structural and biochemical context, mutations in each of the three MRN components that have been associated with diseases such as ataxia telangiectasia-like disorder (ATLD), Nijmegen breakage syndrome (NBS), NBS-like disorder (NB …
Here, we discuss, in a structural and biochemical context, mutations in each of the three MRN components that have been associated with dise …
Chromosome instability syndromes.
Taylor AM. Taylor AM. Best Pract Res Clin Haematol. 2001 Sep;14(3):631-44. doi: 10.1053/beha.2001.0158. Best Pract Res Clin Haematol. 2001. PMID: 11640873 Review.
The chromosome instability syndromes, ataxia telangiectasia (A-T), Fanconi anaemia (FA) and Bloom syndrome (BS) have been known for many years. More recently Nijmegen breakage syndrome (NBS) and ataxia telangiectasia-like disorder (ATLD) have been iden …
The chromosome instability syndromes, ataxia telangiectasia (A-T), Fanconi anaemia (FA) and Bloom syndrome (BS) have been known for many yea …
Oxidative stress in developmental brain disorders.
Hayashi M, Miyata R, Tanuma N. Hayashi M, et al. Adv Exp Med Biol. 2012;724:278-90. doi: 10.1007/978-1-4614-0653-2_21. Adv Exp Med Biol. 2012. PMID: 22411250 Review.
First, in our studies on hereditary DNA repair disorders, increased oxidative DNA damage and lipid peroxidation were carried out in the degeneration of basal ganglia, intracerebral calcification and cerebellar degeneration in patients with xeroderma pigmentosum, Cockayne syndrome …
First, in our studies on hereditary DNA repair disorders, increased oxidative DNA damage and lipid peroxidation were carried out in the dege …
Spinocerebellar ataxia with ocular motor apraxia and DNA repair.
Onodera O. Onodera O. Neuropathology. 2006 Aug;26(4):361-7. doi: 10.1111/j.1440-1789.2006.00741.x. Neuropathology. 2006. PMID: 16961074 Review.
At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type …
At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset ataxia …
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
Le Ber I, Brice A, Dürr A. Le Ber I, et al. Curr Neurol Neurosci Rep. 2005 Sep;5(5):411-7. doi: 10.1007/s11910-005-0066-4. Curr Neurol Neurosci Rep. 2005. PMID: 16131425 Review.
It includes at least four distinct genetic entities: ataxia-telangiectasia, ataxia-telangiectasia-like disorder, and ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2). ...
It includes at least four distinct genetic entities: ataxia-telangiectasia, ataxia-telangiectasia-like disorder, …
Ataxias with autosomal, X-chromosomal or maternal inheritance.
Finsterer J. Finsterer J. Can J Neurol Sci. 2009 Jul;36(4):409-28. doi: 10.1017/s0317167100007733. Can J Neurol Sci. 2009. PMID: 19650351 Review.
The autosomal recessive ataxias are separated into Friedreich ataxia, ataxia due to vitamin E deficiency, ataxia due to Abeta-lipoproteinemia, Refsum disease, late-onset Tay-Sachs disease, cerebrotendineous xanthomatosis, spinocerebellar ataxia with axonal neuropathy, ataxia tela …
The autosomal recessive ataxias are separated into Friedreich ataxia, ataxia due to vitamin E deficiency, ataxia due to Abeta-lipoproteinemi …
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.
Wolf NI, Koenig M. Wolf NI, et al. Handb Clin Neurol. 2013;113:1869-78. doi: 10.1016/B978-0-444-59565-2.00057-5. Handb Clin Neurol. 2013. PMID: 23622410 Review.
In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and ataxia telangiectasia-like disorder, and ataxia with oculomotor apraxia type I and II. ...
In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and ataxia t
21 results