Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1966 1
1967 3
1968 5
1969 3
1970 4
1971 8
1972 8
1973 7
1974 7
1975 5
1976 6
1977 9
1978 9
1979 8
1980 14
1981 10
1982 6
1983 9
1984 13
1985 14
1986 7
1987 8
1988 6
1989 11
1990 11
1991 10
1992 13
1993 15
1994 25
1995 23
1996 26
1997 33
1998 23
1999 34
2000 36
2001 40
2002 25
2003 30
2004 50
2005 35
2006 56
2007 52
2008 48
2009 30
2010 32
2011 45
2012 53
2013 48
2014 56
2015 51
2016 54
2017 48
2018 48
2019 42
2020 66
2021 55
2022 29
2023 25
2024 7

Text availability

Article attribute

Article type

Publication date

Search Results

1,344 results

Results by year

Filters applied: . Clear all
Page 1
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: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Rothblum-Oviatt C, et al. Orphanet J Rare Dis. 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. Orphanet J Rare Dis. 2016. PMID: 27884168 Free PMC article. Review.
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. ...Pulmonary disease and problems …
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebella …
Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group. van Os NJH, et al. Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20. Dev Med Child Neurol. 2017. PMID: 28318010 Free article. Review.
Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands special
Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculoc
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 cau …
INTRODUCTION: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebella …
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.
Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor symptoms (including hypotonia, spasticity, dystonia, and chorea), often accompanied by developmental delay. The primary etiology of a cereb …
Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor …
Cellular functions of the protein kinase ATM and their relevance to human disease.
Lee JH, Paull TT. Lee JH, et al. Nat Rev Mol Cell Biol. 2021 Dec;22(12):796-814. doi: 10.1038/s41580-021-00394-2. Epub 2021 Aug 24. Nat Rev Mol Cell Biol. 2021. PMID: 34429537 Review.
The protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-strand DNA break (DSB) signalling and stress responses. For three decades, ATM has been investigated extensively to elucidate its roles in the DNA damage response (DDR) and in the …
The protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-strand DNA break (DSB) signalling and s …
Chromosome instability syndromes.
Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, Smogorzewska A, Pietrucha B, Weemaes C, Stewart GS. Taylor AMR, et al. Nat Rev Dis Primers. 2019 Sep 19;5(1):64. doi: 10.1038/s41572-019-0113-0. Nat Rev Dis Primers. 2019. PMID: 31537806 Free PMC article. Review.
Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage) disorders. Each disorder has its own pattern of chromosomal damage, with cells fro …
Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are …
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.
Levy A, Lang AE. Levy A, et al. Mov Disord. 2018 Aug;33(8):1238-1247. doi: 10.1002/mds.27319. Epub 2018 Feb 13. Mov Disord. 2018. PMID: 29436738 Review.
Ataxia-telangiectasia is an autosomal recessive neurodegenerative disorder that was initially thought to present exclusively in childhood. ...Phenomenology and age of onset is modulated by presence of residual ATM kinase activity, with genotypes heavily truncating t
Ataxia-telangiectasia is an autosomal recessive neurodegenerative disorder that was initially thought to present exclusively i
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
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
1,344 results