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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 19

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1,335 results

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Page 1
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: 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: 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 …
ATM Mutations in Cancer: Therapeutic Implications.
Choi M, Kipps T, Kurzrock R. Choi M, et al. Mol Cancer Ther. 2016 Aug;15(8):1781-91. doi: 10.1158/1535-7163.MCT-15-0945. Epub 2016 Jul 13. Mol Cancer Ther. 2016. PMID: 27413114 Review.
Activation of checkpoint arrest and homologous DNA repair are necessary for maintenance of genomic integrity during DNA replication. Germ-line mutations of the ataxia telangiectasia mutated (ATM) gene result in the well-characterized ataxia telangiectasia …
Activation of checkpoint arrest and homologous DNA repair are necessary for maintenance of genomic integrity during DNA replication. Germ-li …
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.
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 clinical trial landscape and the obstacles to overcome.
Kuhn K, Lederman HM, McGrath-Morrow SA. Kuhn K, et al. Expert Opin Investig Drugs. 2023 Jul-Dec;32(8):693-704. doi: 10.1080/13543784.2023.2249399. Epub 2023 Aug 28. Expert Opin Investig Drugs. 2023. PMID: 37622329 Review.
INTRODUCTION: Ataxia telangiectasia (A-T) is a life-limiting autosomal recessive disease characterized by cerebellar degeneration, ocular telangiectasias, and sinopulmonary disease. ...Finally, we discuss the use of biological immunotherapies for the treatment of ma …
INTRODUCTION: Ataxia telangiectasia (A-T) is a life-limiting autosomal recessive disease characterized by cerebellar degenerat …
1,335 results