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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1958 2
1959 5
1960 6
1961 6
1962 5
1963 11
1964 18
1965 13
1966 24
1967 31
1968 39
1969 37
1970 41
1971 44
1972 56
1973 33
1974 41
1975 63
1976 56
1977 54
1978 62
1979 56
1980 61
1981 72
1982 75
1983 74
1984 68
1985 114
1986 76
1987 64
1988 58
1989 78
1990 77
1991 58
1992 71
1993 69
1994 110
1995 104
1996 121
1997 145
1998 147
1999 181
2000 214
2001 214
2002 194
2003 232
2004 332
2005 298
2006 404
2007 431
2008 418
2009 446
2010 449
2011 504
2012 548
2013 557
2014 553
2015 536
2016 519
2017 542
2018 487
2019 526
2020 529
2021 582
2022 471
2023 456
2024 512
2025 511
2026 104

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12,891 results

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Page 1
Ataxia telangiectasia.
Collyer J, Rajan DS. Collyer J, et al. Semin Pediatr Neurol. 2024 Dec;52:101169. doi: 10.1016/j.spen.2024.101169. Epub 2024 Nov 19. Semin Pediatr Neurol. 2024. PMID: 39622612 Review.
Ataxia telangiectasia (AT) is a rare neurocutaneous syndrome that results from biallelic pathogenic variants in the ataxia telangiectasia mutated (ATM) gene, named for its characteristic cerebellar ataxia in the early toddler years and variable …
Ataxia telangiectasia (AT) is a rare neurocutaneous syndrome that results from biallelic pathogenic variants in the ataxia …
Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A. Amirifar P, et al. Expert Rev Clin Immunol. 2020 Sep;16(9):859-871. doi: 10.1080/1744666X.2020.1810570. Epub 2020 Oct 15. Expert Rev Clin Immunol. 2020. PMID: 32791865 Review.
INTRODUCTION: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, variable immunodeficiency, radiosensitivity, and cancer predisposition. Mutations cause A-T …
INTRODUCTION: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebellar at …
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.
Huang Y, Yang L, Wang J, Yang F, Xiao Y, Xia R, Yuan X, Yan M. Huang Y, et al. Neuromolecular Med. 2013 Sep;15(3):536-40. doi: 10.1007/s12017-013-8240-3. Epub 2013 Jun 27. Neuromolecular Med. 2013. PMID: 23807571 Free PMC article.
Ataxia telangiectasia (A-T) is an autosomal recessive disease characterized mainly by progressive cerebellar ataxia, oculocutaneous telangiectasia, and immunodeficiency. This disease is caused by mutations of the ataxia telangiectasia mut …
Ataxia telangiectasia (A-T) is an autosomal recessive disease characterized mainly by progressive cerebellar ataxia, oc …
Ataxia telangiectasia.
Nissenkorn A, Ben-Zeev B. Nissenkorn A, et al. Handb Clin Neurol. 2015;132:199-214. doi: 10.1016/B978-0-444-62702-5.00014-7. Handb Clin Neurol. 2015. PMID: 26564081 Review.
Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by a mutation in the ATM gene encoding for the ATM protein. ...Ataxia typically begins around the time children start to walk at about 1 year of age and leads to wheelcha …
Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by a mutation in the ATM gene encodin …
Ataxia-telangiectasia syndrome.
Fortuna J, Rodrigues AL, Pires P. Fortuna J, et al. Pediatr Neonatol. 2022 Sep;63(5):551-552. doi: 10.1016/j.pedneo.2022.01.004. Epub 2022 Mar 23. Pediatr Neonatol. 2022. PMID: 35431147 Free article. No abstract available.
Ataxia telangiectasia.
Crawford TO. Crawford TO. Semin Pediatr Neurol. 1998 Dec;5(4):287-94. doi: 10.1016/s1071-9091(98)80007-7. Semin Pediatr Neurol. 1998. PMID: 9874856 Free article. Review.
The cloning of ATM in 1995, the gene responsible for ataxia-telangiectasia, opened a dimension of biological research that is as complex and intriguing to cell biologists as this classic disorder has been to clinicians for four decades. The phenotype is both variabl …
The cloning of ATM in 1995, the gene responsible for ataxia-telangiectasia, opened a dimension of biological research that is …
The hallmarks of aging in Ataxia-Telangiectasia.
Aguado J, Gómez-Inclán C, Leeson HC, Lavin MF, Shiloh Y, Wolvetang EJ. Aguado J, et al. Ageing Res Rev. 2022 Aug;79:101653. doi: 10.1016/j.arr.2022.101653. Epub 2022 May 26. Ageing Res Rev. 2022. PMID: 35644374 Free article. Review.
Ataxia-telangiectasia (A-T) is caused by absence of the catalytic activity of ATM, a protein kinase that plays a central role in the DNA damage response, many branches of cellular metabolism, redox and mitochondrial homeostasis, and cell cycle regulation. ...
Ataxia-telangiectasia (A-T) is caused by absence of the catalytic activity of ATM, a protein kinase that plays a central role …
Ataxia telangiectasia: what the neurologist needs to know.
Tiet MY, Horvath R, Hensiek AE. Tiet MY, et al. Pract Neurol. 2020 Oct;20(5):404-414. doi: 10.1136/practneurol-2019-002253. Pract Neurol. 2020. PMID: 32958592 Review.
Patients with variant ataxia telangiectasia-with some preserved ataxia telangiectasia-mutated (ATM) kinase activity-have a milder and often atypical phenotype, which can lead to long delays in diagnosis. ...Here, we review the phenotypes of ataxia …
Patients with variant ataxia telangiectasia-with some preserved ataxia telangiectasia-mutated (ATM) kinase activ …
Ataxia-telangiectasia: A review of clinical features and molecular pathology.
Amirifar P, Ranjouri MR, Yazdani R, Abolhassani H, Aghamohammadi A. Amirifar P, et al. Pediatr Allergy Immunol. 2019 May;30(3):277-288. doi: 10.1111/pai.13020. Epub 2019 Mar 20. Pediatr Allergy Immunol. 2019. PMID: 30685876 Review.
Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutations in ataxia-telangiectasia mutated (ATM) gene encoding a serine/threonine protein kinase. A-T patients represent a broad range of cli …
Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutations in …
Ataxia telangiectasia syndrome: moonlighting ATM.
Zaki-Dizaji M, Akrami SM, Abolhassani H, Rezaei N, Aghamohammadi A. Zaki-Dizaji M, et al. Expert Rev Clin Immunol. 2017 Dec;13(12):1155-1172. doi: 10.1080/1744666X.2017.1392856. Epub 2017 Oct 20. Expert Rev Clin Immunol. 2017. PMID: 29034753 Review.
Ataxia-telangiectasia (A-T) a multisystem disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. Identification of the gene defective in this syndrome, ataxia-t …
Ataxia-telangiectasia (A-T) a multisystem disorder primarily characterized by cerebellar degeneration, telangiectasia, …
12,891 results
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