|
1
|
Levy A and Lang AE: Ataxia-telangiectasia:
A review of movement disorders, clinical features, and genotype
correlations-Addendum. Mov Disord. 33:13722018. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Gatti RA, Shaked R, Wei S, Koyama M,
Salser W and Silver J: DNA polymorphism in the human Thy-1 gene.
Hum Immunol. 22:145–150. 1988. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Savitsky K, Bar-Shira A, Gilad S, Rotman
G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, et al: A
single ataxia telangiectasia gene with a product similar to PI-3
kinase. Science. 268:1749–1753. 1995. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Lavin MF and Shiloh Y: The genetic defect
in ataxia-telangiectasia. Annu Rev Immunol. 15:177–202. 1997.
View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Schubert R, Reichenbach J and Zielen S:
Growth factor deficiency in patients with ataxia telangiectasia.
Clin Exp Immunol. 140:517–519. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Kieslich M, Hoche F, Reichenbach J,
Weidauer S, Porto L, Vlaho S, Schubert R and Zielen S:
Extracerebellar MRI-lesions in ataxia telangiectasia go along with
deficiency of the GH/IGF-1 axis, markedly reduced body weight, high
ataxia scores and advanced age. Cerebellum. 9:190–197. 2010.
View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Micol R, Ben Slama L, Suarez F, Le Mignot
L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J,
Couturier J, et al: Morbidity and mortality from
ataxia-telangiectasia are associated with ATM genotype. J Allergy
Clin Immunol. 128:382–389.e1. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Kuhm C, Gallenmüller C, Dörk T, Menzel M,
Biskup S and Klopstock T: Novel ATM mutation in a German patient
presenting as generalized dystonia without classical signs of
ataxia-telangiectasia. J Neurol. 262:768–770. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Piane M, Molinaro A, Soresina A, Costa S,
Maffeis M, Germani A, Pinelli L, Meschini R, Plebani A, Chessa L
and Micheli R: Novel compound heterozygous mutations in a child
with Ataxia-Telangiectasia showing unrelated cerebellar disorders.
J Neurol Sci. 371:48–53. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
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
|
|
11
|
Platzer M, Rotman G, Bauer D, Uziel T,
Savitsky K, Bar-Shira A, Gilad S, Shiloh Y and Rosenthal A:
Ataxia-telangiectasia locus: Sequence analysis of 184 kb of human
genomic DNA containing the entire ATM gene. Genome Res. 7:592–605.
1997. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Ditch S and Paull TT: The ATM protein
kinase and cellular redox signaling: Beyond the DNA damage
response. Trends Biochem Sci. 37:15–22. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Foray N, Marot D, Gabriel A,
Randrianarison V, Carr AM, Perricaudet M, Ashworth A and Jeggo P: A
subset of ATM- and ATR-dependent phosphorylation events requires
the BRCA1 protein. Embo J. 22:2860–2871. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Telatar M, Teraoka S, Wang Z, Chun HH,
Liang T, Castellvi-Bel S, Udar N, Borresen-Dale AL, Chessa L,
Bernatowska-Matuszkiewicz E, et al: Ataxia-telangiectasia:
Identification and detection of founder-effect mutations in the ATM
gene in ethnic populations. Am J Hum Genet. 62:86–97. 1998.
View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Jiang H, Tang B, Xia K, Hu Z, Shen L, Tang
J, Zhao G, Zhang Y, Cai F, Pan Q, et al: Mutation analysis of the
ATM gene in two Chinese patients with ataxia telangiectasia. J
Neurol Sci. 241:1–6. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
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
|
|
17
|
Li H and Durbin R: Fast and accurate short
read alignment with Burrows-Wheeler transform. Bioinformatics.
25:1754–1760. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
McKenna A, Hanna M, Banks E, Sivachenko A,
Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly
M and DePristo MA: The Genome Analysis Toolkit: A MapReduce
framework for analyzing next-generation DNA sequencing data. Genome
Res. 20:1297–1303. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al:
Standards and guidelines for the interpretation of sequence
variants: A joint consensus recommendation of the American college
of medical genetics and genomics and the association for molecular
pathology. Genet Med. 17:405–424. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
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
|
|
21
|
Tabatabaiefar MA, Alipour P, Pourahmadiyan
A, Fattahi N, Shariati L, Golchin N and Mohammadi-Asl J: A novel
pathogenic variant in an Iranian Ataxia telangiectasia family
revealed by next-generation sequencing followed by in silico
analysis. J Neurol Sci. 379:212–216. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Concannon P and Gatti RA: Diversity of ATM
gene mutations detected in patients with ataxia-telangiectasia. Hum
Mutat. 10:100–107. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Jacquemin V, Rieunier G, Jacob S,
Bellanger D, D'Enghien CD, Laugé A, Stoppa-Lyonnet D and Stern MH:
Underexpression and abnormal localization of ATM products in ataxia
telangiectasia patients bearing ATM missense mutations. Eur J Hum
Genet. 20:305–312. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Roy SW and Irimia M: Intron mis-splicing:
No alternative? Genome Biol. 9:2082008. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Jaillon O, Bouhouche K, Gout JF, Aury JM,
Noel B, Saudemont B, Nowacki M, Serrano V, Porcel BM, Ségurens B,
et al: Translational control of intron splicing in eukaryotes.
Nature. 451:359–362. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Gudipati RK, Xu Z, Lebreton A, Séraphin B,
Steinmetz LM, Jacquier A and Libri D: Extensive degradation of RNA
precursors by the exosome in wild-type cells. MolCell. 48:409–421.
2012.
|
|
27
|
Greenberger S, Berkun Y, Ben-Zeev B, Levi
YB, Barziliai A and Nissenkorn A: Dermatologic manifestations of
ataxia-telangiectasia syndrome. J Am Acad Dermatol. 68:932–936.
2013. View Article : Google Scholar : PubMed/NCBI
|
