|
1
|
Boder E and Sedgwick RP:
Ataxia-telangiectasia; a familial syndrome of progressive
cerebellar ataxia, oculocutaneous telangiectasia and frequent
pulmonary infection. Pediatrics. 21:526–554. 1958.PubMed/NCBI
|
|
2
|
McKinnon PJ: ATM and the molecular
pathogenesis of ataxia telangiectasia. Annu Rev Pathol. 7:303–321.
2012. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Gatti RA: Ataxia-telangiectasia. Dermatol
Clin. 13:1–6. 1995. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Gatti RA: The inherited basis of human
radiosensitivity. Acta Oncol. 40:702–711. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Swift M, Sholman L, Perry M and Chase C:
Malignant neoplasms in the families of patients with
ataxia-telangiectasia. Cancer Res. 36:209–215. 1976.PubMed/NCBI
|
|
6
|
Huang Y, Yang L, Wang J, Yang F, Xiao Y,
Xia R, Yuan X and Yan M: Twelve novel Atm mutations identified in
Chinese ataxia telangiectasia patients. Neuromolecular Med.
15:536–540. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Jeddane L, Ailal F, Dubois-d'Enghien C,
Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y, El Hafidi N,
Fadil H, et al: Molecular defects in Moroccan patients with
ataxia-telangiectasia. Neuromolecular Med. 15:288–294. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Rothblum-Oviatt C, Wright J, Lefton-Greif
MA, McGrath-Morrow SA, Crawford TO and Lederman HM: Ataxia
telangiectasia: A review. Orphanet J Rare Dis. 11:1592016.
View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Su Y and Swift M: Mortality rates among
carriers of ataxia-telangiectasia mutant alleles. Ann Intern Med.
133:770–778. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Teive HA, Moro A, Moscovich M, Arruda WO,
Munhoz RP, Raskin S and Ashizawa T: Ataxia-telangiectasia-A
historical review and a proposal for a new designation: ATM
syndrome. J Neurol Sci. 355:3–6. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Chun HH and Gatti RA:
Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst).
3:1187–1196. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Gatti RA, Becker-Catania S, Chun HH, Sun
X, Mitui M, Lai CH, Khanlou N, Babaei M, Cheng R, Clark C, et al:
The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta
Stone. Clin Rev Allergy Immunol. 20:87–108. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Nowak-Wegrzyn A, Crawford TO, Winkelstein
JA, Carson KA and Lederman HM: Immunodeficiency and infections in
ataxia-telangiectasia. J Pediatr. 144:505–511. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Krauthammer A, Lahad A, Goldberg L, Sarouk
I, Weiss B, Somech R, Soudack M and Pessach IM: Elevated IgM levels
as a marker for a unique phenotype in patients with Ataxia
telangiectasia. BMC Pediatr. 18:1852018. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Mitui M, Bernatowska E, Pietrucha B,
Piotrowska-Jastrzebska J, Eng L, Nahas S, Teraoka S, Sholty G,
Purayidom A, Concannon P and Gatti RA: ATM gene founder haplotypes
and associated mutations in Polish families with
ataxia-telangiectasia. Ann Hum Genet. 69:657–664. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Nakamura K, Du L, Tunuguntla R, Fike F,
Cavalieri S, Morio T, Mizutani S, Brusco A and Gatti RA: Functional
characterization and targeted correction of ATM mutations
identified in Japanese patients with ataxia-telangiectasia. Hum
Mutat. 33:198–208. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Reiman A, Srinivasan V, Barone G, Last JI,
Wootton LL, Davies EG, Verhagen MM, Willemsen MA, Weemaes CM, Byrd
PJ, et al: Lymphoid tumours and breast cancer in ataxia
telangiectasia; substantial protective effect of residual ATM
kinase activity against childhood tumours. Br J Cancer.
105:586–591. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Suarez F, Mahlaoui N, Canioni D,
Andriamanga C, d'Enghien Dubois C, Brousse N, Jais JP, Fischer A,
Hermine O and Stoppa-Lyonnet D: Incidence, presentation, and
prognosis of malignancies in ataxia-telangiectasia: A report from
the French national registry of primary immune deficiencies. J Clin
Oncol. 33:202–208. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Moin M, Aghamohammadi A, Kouhi A,
Tavassoli S, Rezaei N, Ghaffari SR, Gharagozlou M, Movahedi M,
Purpak Z, Ghazi Mirsaeid B, et al: Ataxia-telangiectasia in Iran:
Clinical and laboratory features of 104 patients. Pediatr Neurol.
37:21–28. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Perlman S, Becker-Catania S and Gatti RA:
Ataxia-telangiectasia: Diagnosis and treatment. Semin Pediatr
Neurol. 10:173–182. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Choi M, Kipps T and Kurzrock R: ATM
mutations in cancer: Therapeutic implications. Mol Cancer Ther.
15:1781–1791. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Schoenaker MH, Suarez F, Szczepanski T,
Mahlaoui N and Loeffen JL: Treatment of acute leukemia in children
with ataxia telangiectasia (A-T). Eur J Med Genet. 59:641–646.
2016. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
van Os NJH, Haaxma CA, van der Flier M,
Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de
Warrenburg BPC and Willemsen MAAP; A-T Study Group, :
Ataxia-telangiectasia: Recommendations for multidisciplinary
treatment. Dev Med Child Neurol. 59:680–689. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Bhatt JM, Bush A, van Gerven M, Nissenkorn
A, Renke M, Yarlett L, Taylor M, Tonia T, Warris A, Zielen S, et
al: ERS statement on the multidisciplinary respiratory management
of ataxia telangiectasia. Eur Respir Rev. 24:565–581. 2015.
View Article : Google Scholar : PubMed/NCBI
|
