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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. ...ETIOLOGY: A-T is …
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by ce …
The natural history of ataxia-telangiectasia (A-T): A systematic review.
Petley E, Yule A, Alexander S, Ojha S, Whitehouse WP. Petley E, et al. PLoS One. 2022 Mar 15;17(3):e0264177. doi: 10.1371/journal.pone.0264177. eCollection 2022. PLoS One. 2022. PMID: 35290391 Free PMC article.
BACKGROUND: Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. ...OBJECTIVES: Understand the natural history of ataxia-telangiectasia ( …
BACKGROUND: Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in …
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 broa …
Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutation …
Ataxia-telangiectasia (A-T): An emerging dimension of premature ageing.
Shiloh Y, Lederman HM. Shiloh Y, et al. Ageing Res Rev. 2017 Jan;33:76-88. doi: 10.1016/j.arr.2016.05.002. Epub 2016 May 12. Ageing Res Rev. 2017. PMID: 27181190 Review.
A-T is a prototype genome instability syndrome and a multifaceted disease. A-T leads to neurodegeneration - primarily cerebellar atrophy, immunodeficiency, oculocutaneous telangiectasia (dilated blood vessels), vestigial thymus and gonads, endocrine abnormali …
A-T is a prototype genome instability syndrome and a multifaceted disease. A-T leads to neurodegeneration - primarily cerebell …
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 …
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 …
Ataxia telangiectasia (A-T) is an autosomal recessive disease characterized mainly by progressive cerebellar ataxia …
Longitudinal analysis of the neurological features of ataxia-telangiectasia.
Jackson TJ, Chow G, Suri M, Byrd P, Taylor MR, Whitehouse WP. Jackson TJ, et al. Dev Med Child Neurol. 2016 Jul;58(7):690-7. doi: 10.1111/dmcn.13052. Epub 2016 Feb 19. Dev Med Child Neurol. 2016. PMID: 26896183 Free article.
AIM: To assess the relationship between genotype and neurological progression in ataxia-telangiectasia (A-T). METHODS: Clinical and laboratory data were extracted retrospectively from the records of patients attending the UK National Ataxia-Telangie …
AIM: To assess the relationship between genotype and neurological progression in ataxia-telangiectasia (A-T). METHODS: …
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 centra …
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 …
7,737 results