메뉴 건너뛰기




Volumn 132, Issue , 2015, Pages 199-214

Ataxia telangiectasia

Author keywords

ATM; Cerebellar; DNA repair; Movement disorder; Neurodegeneration

Indexed keywords

ATM PROTEIN; ATM PROTEIN, HUMAN;

EID: 84961240749     PISSN: 00729752     EISSN: 22124152     Source Type: Book Series    
DOI: 10.1016/B978-0-444-62702-5.00014-7     Document Type: Chapter
Times cited : (42)

References (138)
  • 1
    • 34547637645 scopus 로고    scopus 로고
    • Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype
    • Alterman N., Fattal-Valevski A., Moyal L., et al. Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype. Am J Med Genet A 2007, 143A:1827-1834.
    • (2007) Am J Med Genet A , vol.143A , pp. 1827-1834
    • Alterman, N.1    Fattal-Valevski, A.2    Moyal, L.3
  • 2
    • 84878527709 scopus 로고    scopus 로고
    • Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions
    • Ambrose M., Gatti R.A. Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions. Blood 2013, 121:4036-4045.
    • (2013) Blood , vol.121 , pp. 4036-4045
    • Ambrose, M.1    Gatti, R.A.2
  • 3
    • 0018599748 scopus 로고
    • Ataxia-telangiectasia with a 32 year survival. A clinicopathological report
    • Amromin G.D., Boder E., Teplitz R. Ataxia-telangiectasia with a 32 year survival. A clinicopathological report. J Neuropathol Exp Neurol 1979, 38:621-643.
    • (1979) J Neuropathol Exp Neurol , vol.38 , pp. 621-643
    • Amromin, G.D.1    Boder, E.2    Teplitz, R.3
  • 4
    • 33847655393 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome and functions of the responsible protein, NBS1
    • Antoccia A., Kobayashi J., Tauchi H., et al. Nijmegen breakage syndrome and functions of the responsible protein, NBS1. Genome Dyn 2006, 1:191-205.
    • (2006) Genome Dyn , vol.1 , pp. 191-205
    • Antoccia, A.1    Kobayashi, J.2    Tauchi, H.3
  • 5
    • 77951723978 scopus 로고    scopus 로고
    • Olfactory epithelium amyloid-beta and paired helical filament-tau pathology in Alzheimer disease
    • Arnold S.E., Lee E.B., Moberg P.J., et al. Olfactory epithelium amyloid-beta and paired helical filament-tau pathology in Alzheimer disease. Ann Neurol 2010, 67:462-469.
    • (2010) Ann Neurol , vol.67 , pp. 462-469
    • Arnold, S.E.1    Lee, E.B.2    Moberg, P.J.3
  • 6
    • 0037472924 scopus 로고    scopus 로고
    • DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation
    • Bakkenist C.J., Kastan M.B. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature 2003, 421:499-506.
    • (2003) Nature , vol.421 , pp. 499-506
    • Bakkenist, C.J.1    Kastan, M.B.2
  • 7
    • 0018163187 scopus 로고
    • Eye movements in ataxia-telangiectasia
    • Baloh R.W., Yee R.D., Boder E. Eye movements in ataxia-telangiectasia. Neurology 1978, 28:1099-1104.
    • (1978) Neurology , vol.28 , pp. 1099-1104
    • Baloh, R.W.1    Yee, R.D.2    Boder, E.3
  • 8
    • 15844426692 scopus 로고    scopus 로고
    • ATM-deficient mice: a paradigm of ataxia telangiectasia
    • Barlow C., Hirotsune S., Paylor R., et al. ATM-deficient mice: a paradigm of ataxia telangiectasia. Cell 1996, 86:159-171.
    • (1996) Cell , vol.86 , pp. 159-171
    • Barlow, C.1    Hirotsune, S.2    Paylor, R.3
  • 9
    • 0036012789 scopus 로고    scopus 로고
    • ATM deficiency and oxidative stress: a new dimension of defective response to oxidative stress
    • Barzilai A., Rotman G., Shiloh Y. ATM deficiency and oxidative stress: a new dimension of defective response to oxidative stress. DNA Repair (Amst) 2002, 1:3-25.
    • (2002) DNA Repair (Amst) , vol.1 , pp. 3-25
    • Barzilai, A.1    Rotman, G.2    Shiloh, Y.3
  • 10
    • 84881504493 scopus 로고    scopus 로고
    • Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant
    • Bielorai B., Fisher T., Waldman D., et al. Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant. Pediatr Hematol Oncol 2013, 30:574-582.
    • (2013) Pediatr Hematol Oncol , vol.30 , pp. 574-582
    • Bielorai, B.1    Fisher, T.2    Waldman, D.3
  • 11
    • 33745186920 scopus 로고    scopus 로고
    • Nuclear ataxia-telangiectasia mutated (ATM) mediates the cellular response to DNA double strand breaks in human neuron-like cells
    • Biton S., Dar I., Mittelman L., et al. Nuclear ataxia-telangiectasia mutated (ATM) mediates the cellular response to DNA double strand breaks in human neuron-like cells. J Biol Chem 2006, 281:17482-17491.
    • (2006) J Biol Chem , vol.281 , pp. 17482-17491
    • Biton, S.1    Dar, I.2    Mittelman, L.3
  • 12
    • 44949238447 scopus 로고    scopus 로고
    • The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle
    • Biton S., Barzilai A., Shiloh Y. The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle. DNA Repair (Amst) 2008, 7:1028-1038.
    • (2008) DNA Repair (Amst) , vol.7 , pp. 1028-1038
    • Biton, S.1    Barzilai, A.2    Shiloh, Y.3
  • 13
    • 0016832693 scopus 로고
    • Ataxia-telangiectasia: some historic, clinical and pathologic observations
    • Boder E. Ataxia-telangiectasia: some historic, clinical and pathologic observations. Birth Defects Orig Artic Ser 1975, 11:255-270.
    • (1975) Birth Defects Orig Artic Ser , vol.11 , pp. 255-270
    • Boder, E.1
  • 14
    • 78651043982 scopus 로고
    • Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection
    • Boder E., Sedgwick R.P. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 1958, 21:526-554.
    • (1958) Pediatrics , vol.21 , pp. 526-554
    • Boder, E.1    Sedgwick, R.P.2
  • 16
    • 77957021481 scopus 로고    scopus 로고
    • The cerebellum and basal ganglia are interconnected
    • Bostan A.C., Strick P.L. The cerebellum and basal ganglia are interconnected. Neuropsychol Rev 2010, 20:261-270.
    • (2010) Neuropsychol Rev , vol.20 , pp. 261-270
    • Bostan, A.C.1    Strick, P.L.2
  • 17
    • 84855977451 scopus 로고    scopus 로고
    • Heterotopic Purkinje cells in ataxia-telangiectasia
    • Bottini A.R., Gatti R.A., Wirenfeldt M., et al. Heterotopic Purkinje cells in ataxia-telangiectasia. Neuropathology 2012, 32:23-29.
    • (2012) Neuropathology , vol.32 , pp. 23-29
    • Bottini, A.R.1    Gatti, R.A.2    Wirenfeldt, M.3
  • 18
    • 53149091313 scopus 로고    scopus 로고
    • Aberrant V(D)J recombination in ataxia telangiectasia mutated-deficient lymphocytes is dependent on nonhomologous DNA end joining
    • Bredemeyer A.L., Huang C.Y., Walker L.M., et al. Aberrant V(D)J recombination in ataxia telangiectasia mutated-deficient lymphocytes is dependent on nonhomologous DNA end joining. J Immunol 2008, 181:2620-2625.
    • (2008) J Immunol , vol.181 , pp. 2620-2625
    • Bredemeyer, A.L.1    Huang, C.Y.2    Walker, L.M.3
  • 19
    • 84887005295 scopus 로고    scopus 로고
    • The cerebellum and cognitive function: 25 years of insight from anatomy and neuroimaging
    • Buckner R.L. The cerebellum and cognitive function: 25 years of insight from anatomy and neuroimaging. Neuron 2013, 80:807-815.
    • (2013) Neuron , vol.80 , pp. 807-815
    • Buckner, R.L.1
  • 20
    • 79952009635 scopus 로고    scopus 로고
    • The neural substrates of rapid-onset dystonia-parkinsonism
    • Calderon D.P., Fremont R., Kraenzlin F., et al. The neural substrates of rapid-onset dystonia-parkinsonism. Nat Neurosci 2011, 14:357-365.
    • (2011) Nat Neurosci , vol.14 , pp. 357-365
    • Calderon, D.P.1    Fremont, R.2    Kraenzlin, F.3
  • 21
    • 84880624619 scopus 로고    scopus 로고
    • ATM-deficient human neural stem cells as an in vitro model system to study neurodegeneration
    • Carlessi L., Fusar Poli E., De Filippis L., et al. ATM-deficient human neural stem cells as an in vitro model system to study neurodegeneration. DNA Repair (Amst) 2013, 12:605-611.
    • (2013) DNA Repair (Amst) , vol.12 , pp. 605-611
    • Carlessi, L.1    Fusar Poli, E.2    De Filippis, L.3
  • 22
    • 84877685731 scopus 로고    scopus 로고
    • Brain and induced pluripotent stem cell-derived neural stem cells as an in vitro model of neurodegeneration in ataxia-telangiectasia
    • Carlessi L., Fusar Poli E., Delia D. Brain and induced pluripotent stem cell-derived neural stem cells as an in vitro model of neurodegeneration in ataxia-telangiectasia. Exp Biol Med (Maywood) 2013, 238:301-307.
    • (2013) Exp Biol Med (Maywood) , vol.238 , pp. 301-307
    • Carlessi, L.1    Fusar Poli, E.2    Delia, D.3
  • 23
    • 84892158748 scopus 로고    scopus 로고
    • Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial
    • PubMed PMID: 24405665; PubMed Central PMCID: PMC3904207
    • Chessa L., Leuzzi V., Plebani A., et al. Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial. Orphanet J Rare Dis 2014, 9:5. PubMed PMID: 24405665; PubMed Central PMCID: PMC3904207. 10.1186/1750-1172-9-5.
    • (2014) Orphanet J Rare Dis , vol.9 , pp. 5
    • Chessa, L.1    Leuzzi, V.2    Plebani, A.3
  • 24
    • 84872678501 scopus 로고    scopus 로고
    • Ataxia telangiectasia mutated impacts insulin-like growth factor 1 signalling in skeletal muscle
    • Ching J.K., Luebbert S.H., Collins R.L., et al. Ataxia telangiectasia mutated impacts insulin-like growth factor 1 signalling in skeletal muscle. Exp Physiol 2013, 98:526-535.
    • (2013) Exp Physiol , vol.98 , pp. 526-535
    • Ching, J.K.1    Luebbert, S.H.2    Collins, R.L.3
  • 26
    • 3242876404 scopus 로고    scopus 로고
    • Ataxia-telangiectasia, an evolving phenotype
    • Chun H.H., Gatti R.A. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) 2004, 3:1187-1196.
    • (2004) DNA Repair (Amst) , vol.3 , pp. 1187-1196
    • Chun, H.H.1    Gatti, R.A.2
  • 27
    • 0033832258 scopus 로고    scopus 로고
    • Abnormal white matter signal in ataxia telangiectasia
    • Ciemins J.J., Horowitz A.L. Abnormal white matter signal in ataxia telangiectasia. AJNR Am J Neuroradiol 2000, 21:1483-1485.
    • (2000) AJNR Am J Neuroradiol , vol.21 , pp. 1483-1485
    • Ciemins, J.J.1    Horowitz, A.L.2
  • 28
    • 41749113847 scopus 로고    scopus 로고
    • Bladder wall telangiectasis causing life-threatening haematuria in ataxia-telangiectasia: a new observation
    • Cohen J.M., Cuckow P., Davies E.G. Bladder wall telangiectasis causing life-threatening haematuria in ataxia-telangiectasia: a new observation. Acta Paediatr 2008, 97:667-669.
    • (2008) Acta Paediatr , vol.97 , pp. 667-669
    • Cohen, J.M.1    Cuckow, P.2    Davies, E.G.3
  • 29
    • 79551580561 scopus 로고    scopus 로고
    • ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair
    • Cosentino C., Grieco D., Costanzo V. ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair. EMBO J 2011, 30:546-555.
    • (2011) EMBO J , vol.30 , pp. 546-555
    • Cosentino, C.1    Grieco, D.2    Costanzo, V.3
  • 30
    • 84880237324 scopus 로고
    • Ataxia with oculomotor apraxia type 1
    • University of Washington, Seattle, Seattle WA, R.A. Pagon, M.P. Adam, T.D. Bird (Eds.)
    • Coutinho P., Barbot C. Ataxia with oculomotor apraxia type 1. GeneReviews 1993, University of Washington, Seattle, Seattle WA. R.A. Pagon, M.P. Adam, T.D. Bird (Eds.).
    • (1993) GeneReviews
    • Coutinho, P.1    Barbot, C.2
  • 32
    • 0034636062 scopus 로고    scopus 로고
    • Quantitative neurologic assessment of ataxia-telangiectasia
    • Crawford T.O., Mandir A.S., Lefton-Greif M.A., et al. Quantitative neurologic assessment of ataxia-telangiectasia. Neurology 2000, 54:1505-1509.
    • (2000) Neurology , vol.54 , pp. 1505-1509
    • Crawford, T.O.1    Mandir, A.S.2    Lefton-Greif, M.A.3
  • 33
  • 34
    • 84903629564 scopus 로고    scopus 로고
    • ATM signalling and cancer
    • Cremona C.A., Behrens A. ATM signalling and cancer. Oncogene 2014, 33:3351-3360.
    • (2014) Oncogene , vol.33 , pp. 3351-3360
    • Cremona, C.A.1    Behrens, A.2
  • 35
    • 84889101448 scopus 로고    scopus 로고
    • Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia
    • Cummins G., Jawad T., Taylor M., et al. Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia. Parkinsonism Relat Disord 2013, 19:1173-1174.
    • (2013) Parkinsonism Relat Disord , vol.19 , pp. 1173-1174
    • Cummins, G.1    Jawad, T.2    Taylor, M.3
  • 36
    • 33747041682 scopus 로고    scopus 로고
    • Analysis of the ataxia telangiectasia mutated-mediated DNA damage response in murine cerebellar neurons
    • Dar I., Biton S., Shiloh Y., et al. Analysis of the ataxia telangiectasia mutated-mediated DNA damage response in murine cerebellar neurons. J Neurosci 2006, 26:7767-7774.
    • (2006) J Neurosci , vol.26 , pp. 7767-7774
    • Dar, I.1    Biton, S.2    Shiloh, Y.3
  • 37
    • 19544389992 scopus 로고    scopus 로고
    • An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability
    • Demuth I., Frappart P.O., Hildebrand G., et al. An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. Hum Mol Genet 2004, 13:2385-2397.
    • (2004) Hum Mol Genet , vol.13 , pp. 2385-2397
    • Demuth, I.1    Frappart, P.O.2    Hildebrand, G.3
  • 38
    • 84855607470 scopus 로고    scopus 로고
    • The ATM protein kinase and cellular redox signaling: beyond the DNA damage response
    • Ditch S., Paull T.T. The ATM protein kinase and cellular redox signaling: beyond the DNA damage response. Trends Biochem Sci 2012, 37:15-22.
    • (2012) Trends Biochem Sci , vol.37 , pp. 15-22
    • Ditch, S.1    Paull, T.T.2
  • 39
    • 84876921823 scopus 로고    scopus 로고
    • Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity
    • Driessen G.J., Ijspeert H., Weemaes C.M., et al. Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity. J Allergy Clin Immunol 2013, 131:1367-1375 e9.
    • (2013) J Allergy Clin Immunol , vol.131 , pp. 1367-1375 e9
    • Driessen, G.J.1    Ijspeert, H.2    Weemaes, C.M.3
  • 40
    • 84883742368 scopus 로고    scopus 로고
    • A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene
    • Du L., Jung M.E., Damoiseaux R., et al. A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene. Mol Ther 2013, 21:1653-1660.
    • (2013) Mol Ther , vol.21 , pp. 1653-1660
    • Du, L.1    Jung, M.E.2    Damoiseaux, R.3
  • 42
    • 0036895717 scopus 로고    scopus 로고
    • Ocular manifestations of ataxia-telangiectasia
    • Farr A.K., Shalev B., Crawford T.O., et al. Ocular manifestations of ataxia-telangiectasia. Am J Ophthalmol 2002, 134:891-896.
    • (2002) Am J Ophthalmol , vol.134 , pp. 891-896
    • Farr, A.K.1    Shalev, B.2    Crawford, T.O.3
  • 43
    • 79959267641 scopus 로고    scopus 로고
    • Unique and redundant functions of ATM and DNA-PKcs during V(D)J recombination
    • Gapud E.J., Sleckman B.P. Unique and redundant functions of ATM and DNA-PKcs during V(D)J recombination. Cell Cycle 2011, 10:1928-1935.
    • (2011) Cell Cycle , vol.10 , pp. 1928-1935
    • Gapud, E.J.1    Sleckman, B.P.2
  • 44
    • 84961260819 scopus 로고
    • Ataxia-t6elangiectasia
    • University of Washington, Seattle, Seattle WA, R.A. Pagon, M.P. Adam, T.D. Bird (Eds.)
    • Gatti R. Ataxia-t6elangiectasia. GeneReviews 1993, University of Washington, Seattle, Seattle WA. R.A. Pagon, M.P. Adam, T.D. Bird (Eds.).
    • (1993) GeneReviews
    • Gatti, R.1
  • 45
    • 0022308737 scopus 로고
    • Cerebellar pathology in ataxia-telangiectasia: the significance of basket cells
    • Gatti R.A., Vinters H.V. Cerebellar pathology in ataxia-telangiectasia: the significance of basket cells. Kroc Found Ser 1985, 19:225-232.
    • (1985) Kroc Found Ser , vol.19 , pp. 225-232
    • Gatti, R.A.1    Vinters, H.V.2
  • 46
    • 10544235695 scopus 로고    scopus 로고
    • Ataxia-telangiectasia: founder effect among North African Jews
    • Gilad S., Bar-Shira A., Harnik R., et al. Ataxia-telangiectasia: founder effect among North African Jews. Hum Mol Genet 1996, 5:2033-2037.
    • (1996) Hum Mol Genet , vol.5 , pp. 2033-2037
    • Gilad, S.1    Bar-Shira, A.2    Harnik, R.3
  • 47
    • 13344269672 scopus 로고    scopus 로고
    • Predominance of null mutations in ataxia-telangiectasia
    • Gilad S., Khosravi R., Shkedy D., et al. Predominance of null mutations in ataxia-telangiectasia. Hum Mol Genet 1996, 5:433-439.
    • (1996) Hum Mol Genet , vol.5 , pp. 433-439
    • Gilad, S.1    Khosravi, R.2    Shkedy, D.3
  • 48
    • 84877812635 scopus 로고    scopus 로고
    • Dermatologic manifestations of ataxia-telangiectasia syndrome
    • Greenberger S., Berkun Y., Ben-Zeev B., et al. Dermatologic manifestations of ataxia-telangiectasia syndrome. J Am Acad Dermatol 2013, 68:932-936.
    • (2013) J Am Acad Dermatol , vol.68 , pp. 932-936
    • Greenberger, S.1    Berkun, Y.2    Ben-Zeev, B.3
  • 49
    • 33645984272 scopus 로고    scopus 로고
    • Response to polysaccharide antigens in patients with ataxia-telangiectasia
    • Guerra-Maranhao M.C., Costa-Carvalho B.T., Nudelman V., et al. Response to polysaccharide antigens in patients with ataxia-telangiectasia. J Pediatr (Rio J) 2006, 82:132-136.
    • (2006) J Pediatr (Rio J) , vol.82 , pp. 132-136
    • Guerra-Maranhao, M.C.1    Costa-Carvalho, B.T.2    Nudelman, V.3
  • 50
    • 77958191599 scopus 로고    scopus 로고
    • ATM activation by oxidative stress
    • Guo Z., Kozlov S., Lavin M.F., et al. ATM activation by oxidative stress. Science 2010, 330:517-521.
    • (2010) Science , vol.330 , pp. 517-521
    • Guo, Z.1    Kozlov, S.2    Lavin, M.F.3
  • 51
    • 84888134806 scopus 로고    scopus 로고
    • ATM and the epigenetics of the neuronal genome
    • Herrup K. ATM and the epigenetics of the neuronal genome. Mech Ageing Dev 2013, 134:434-439.
    • (2013) Mech Ageing Dev , vol.134 , pp. 434-439
    • Herrup, K.1
  • 52
    • 84880590064 scopus 로고    scopus 로고
    • The role of ATM and DNA damage in neurons: upstream and downstream connections
    • Herrup K., Li J., Chen J. The role of ATM and DNA damage in neurons: upstream and downstream connections. DNA Repair (Amst) 2013, 12:600-604.
    • (2013) DNA Repair (Amst) , vol.12 , pp. 600-604
    • Herrup, K.1    Li, J.2    Chen, J.3
  • 53
    • 33747041392 scopus 로고    scopus 로고
    • Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia
    • Hiel J.A., Van Engelen B.G., Weemaes C.M., et al. Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. Neurology 2006, 67:346-349.
    • (2006) Neurology , vol.67 , pp. 346-349
    • Hiel, J.A.1    Van Engelen, B.G.2    Weemaes, C.M.3
  • 54
    • 84880586724 scopus 로고    scopus 로고
    • DNA repair mechanisms in dividing and non-dividing cells
    • Iyama T., Wilson D.M. DNA repair mechanisms in dividing and non-dividing cells. DNA Repair (Amst) 2013, 12:620-636.
    • (2013) DNA Repair (Amst) , vol.12 , pp. 620-636
    • Iyama, T.1    Wilson, D.M.2
  • 55
    • 0035266308 scopus 로고    scopus 로고
    • Increased oxidative stress in ataxia telangiectasia evidenced by alterations in redox state of brains from Atm-deficient mice
    • Kamsler A., Daily D., Hochman A., et al. Increased oxidative stress in ataxia telangiectasia evidenced by alterations in redox state of brains from Atm-deficient mice. Cancer Res 2001, 61:1849-1854.
    • (2001) Cancer Res , vol.61 , pp. 1849-1854
    • Kamsler, A.1    Daily, D.2    Hochman, A.3
  • 56
    • 78649262870 scopus 로고    scopus 로고
    • The ZFHX3 (ATBF1) transcription factor induces PDGFRB, which activates ATM in the cytoplasm to protect cerebellar neurons from oxidative stress
    • Kim T.S., Kawaguchi M., Suzuki M., et al. The ZFHX3 (ATBF1) transcription factor induces PDGFRB, which activates ATM in the cytoplasm to protect cerebellar neurons from oxidative stress. Dis Model Mech 2010, 3:752-762.
    • (2010) Dis Model Mech , vol.3 , pp. 752-762
    • Kim, T.S.1    Kawaguchi, M.2    Suzuki, M.3
  • 57
    • 84896494346 scopus 로고    scopus 로고
    • Consensus paper: the cerebellum's role in movement and cognition
    • Koziol L.F., Budding D., Andreasen N., et al. Consensus paper: the cerebellum's role in movement and cognition. Cerebellum 2014, 13:151-177.
    • (2014) Cerebellum , vol.13 , pp. 151-177
    • Koziol, L.F.1    Budding, D.2    Andreasen, N.3
  • 58
    • 0142043004 scopus 로고    scopus 로고
    • Analysis of secondary V(D)J rearrangements in mature, peripheral T cells of ataxia-telangiectasia heterozygotes
    • Lantelme E., Turinetto V., Mantovani S., et al. Analysis of secondary V(D)J rearrangements in mature, peripheral T cells of ataxia-telangiectasia heterozygotes. Lab Invest 2003, 83:1467-1475.
    • (2003) Lab Invest , vol.83 , pp. 1467-1475
    • Lantelme, E.1    Turinetto, V.2    Mantovani, S.3
  • 59
    • 84880606646 scopus 로고    scopus 로고
    • The appropriateness of the mouse model for ataxia-telangiectasia: neurological defects but no neurodegeneration
    • Lavin M.F. The appropriateness of the mouse model for ataxia-telangiectasia: neurological defects but no neurodegeneration. DNA Repair (Amst) 2013, 12:612-619.
    • (2013) DNA Repair (Amst) , vol.12 , pp. 612-619
    • Lavin, M.F.1
  • 60
    • 0033913490 scopus 로고    scopus 로고
    • Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia
    • Lefton-Greif M.A., Crawford T.O., Winkelstein J.A., et al. Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia. J Pediatr 2000, 136:225-231.
    • (2000) J Pediatr , vol.136 , pp. 225-231
    • Lefton-Greif, M.A.1    Crawford, T.O.2    Winkelstein, J.A.3
  • 61
    • 79955824101 scopus 로고    scopus 로고
    • Safety and caregiver satisfaction with gastrostomy in patients with ataxia telangiectasia
    • Lefton-Greif M.A., Crawford T.O., McGrath-Morrow S., et al. Safety and caregiver satisfaction with gastrostomy in patients with ataxia telangiectasia. Orphanet J Rare Dis 2011, 6:23.
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 23
    • Lefton-Greif, M.A.1    Crawford, T.O.2    McGrath-Morrow, S.3
  • 62
    • 0032885176 scopus 로고    scopus 로고
    • Ocular motor abnormalities in ataxia telangiectasia
    • Lewis R.F., Lederman H.M., Crawford T.O. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol 1999, 46:287-295.
    • (1999) Ann Neurol , vol.46 , pp. 287-295
    • Lewis, R.F.1    Lederman, H.M.2    Crawford, T.O.3
  • 63
    • 72449147303 scopus 로고    scopus 로고
    • Cytoplasmic ATM in neurons modulates synaptic function
    • Li J., Han Y.R., Plummer M.R., et al. Cytoplasmic ATM in neurons modulates synaptic function. Curr Biol 2009, 19:2091-2096.
    • (2009) Curr Biol , vol.19 , pp. 2091-2096
    • Li, J.1    Han, Y.R.2    Plummer, M.R.3
  • 64
    • 79956308086 scopus 로고    scopus 로고
    • Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia
    • Li J., Chen J., Vinters H.V., et al. Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia. J Neurosci 2011, 31:7568-7577.
    • (2011) J Neurosci , vol.31 , pp. 7568-7577
    • Li, J.1    Chen, J.2    Vinters, H.V.3
  • 65
    • 84860692938 scopus 로고    scopus 로고
    • Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia
    • Li J., Chen J., Ricupero C.L., et al. Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia. Nat Med 2012, 18:783-790.
    • (2012) Nat Med , vol.18 , pp. 783-790
    • Li, J.1    Chen, J.2    Ricupero, C.L.3
  • 66
    • 33846210704 scopus 로고    scopus 로고
    • Proton MR spectroscopic imaging in ataxia-telangiectasia
    • Lin D.D., Crawford T.O., Lederman H.M., et al. Proton MR spectroscopic imaging in ataxia-telangiectasia. Neuropediatrics 2006, 37:241-246.
    • (2006) Neuropediatrics , vol.37 , pp. 241-246
    • Lin, D.D.1    Crawford, T.O.2    Lederman, H.M.3
  • 67
    • 84892738744 scopus 로고    scopus 로고
    • Cerebral abnormalities in adults with ataxia-telangiectasia
    • Lin D.D., Barker P.B., Lederman H.M., et al. Cerebral abnormalities in adults with ataxia-telangiectasia. AJNR Am J Neuroradiol 2014, 35:119-123.
    • (2014) AJNR Am J Neuroradiol , vol.35 , pp. 119-123
    • Lin, D.D.1    Barker, P.B.2    Lederman, H.M.3
  • 68
    • 0034265278 scopus 로고    scopus 로고
    • Lymphoid malignancy as a presenting sign of ataxia-telangiectasia
    • Loeb D.M., Lederman H.M., Winkelstein J.A. Lymphoid malignancy as a presenting sign of ataxia-telangiectasia. J Pediatr Hematol Oncol 2000, 22:464-467.
    • (2000) J Pediatr Hematol Oncol , vol.22 , pp. 464-467
    • Loeb, D.M.1    Lederman, H.M.2    Winkelstein, J.A.3
  • 69
    • 0002535394 scopus 로고
    • Sur un syndrome progressif cormprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoïde et des troubles cérébelleux
    • Louis-Bar D. Sur un syndrome progressif cormprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoïde et des troubles cérébelleux. Confin Neurol 1941, 4:32-42.
    • (1941) Confin Neurol , vol.4 , pp. 32-42
    • Louis-Bar, D.1
  • 70
    • 46149115160 scopus 로고    scopus 로고
    • HDAC4 inhibits cell-cycle progression and protects neurons from cell death
    • Majdzadeh N., Wang L., Morrison B.E., et al. HDAC4 inhibits cell-cycle progression and protects neurons from cell death. Dev Neurobiol 2008, 68:1076-1092.
    • (2008) Dev Neurobiol , vol.68 , pp. 1076-1092
    • Majdzadeh, N.1    Wang, L.2    Morrison, B.E.3
  • 71
    • 79957959532 scopus 로고    scopus 로고
    • Friedreich's ataxia: past, present and future
    • Marmolino D. Friedreich's ataxia: past, present and future. Brain Res Rev 2011, 67:311-330.
    • (2011) Brain Res Rev , vol.67 , pp. 311-330
    • Marmolino, D.1
  • 72
    • 0029819493 scopus 로고    scopus 로고
    • Mutations associated with variant phenotypes in ataxia-telangiectasia
    • McConville C.M., Stankovic T., Byrd P.J., et al. Mutations associated with variant phenotypes in ataxia-telangiectasia. Am J Hum Genet 1996, 59:320-330.
    • (1996) Am J Hum Genet , vol.59 , pp. 320-330
    • McConville, C.M.1    Stankovic, T.2    Byrd, P.J.3
  • 74
    • 77957279926 scopus 로고    scopus 로고
    • Evaluation and management of pulmonary disease in ataxia-telangiectasia
    • McGrath-Morrow S.A., Gower W.A., Rothblum-Oviatt C., et al. Evaluation and management of pulmonary disease in ataxia-telangiectasia. Pediatr Pulmonol 2010, 45:847-859.
    • (2010) Pediatr Pulmonol , vol.45 , pp. 847-859
    • McGrath-Morrow, S.A.1    Gower, W.A.2    Rothblum-Oviatt, C.3
  • 75
    • 84890568972 scopus 로고    scopus 로고
    • Pulmonary function in children and young adults with ataxia telangiectasia
    • McGrath-Morrow S.A., Lederman H.M., Aherrera A.D., et al. Pulmonary function in children and young adults with ataxia telangiectasia. Pediatr Pulmonol 2014, 49:84-90.
    • (2014) Pediatr Pulmonol , vol.49 , pp. 84-90
    • McGrath-Morrow, S.A.1    Lederman, H.M.2    Aherrera, A.D.3
  • 76
    • 84856866360 scopus 로고    scopus 로고
    • ATM and the molecular pathogenesis of ataxia telangiectasia
    • McKinnon P.J. ATM and the molecular pathogenesis of ataxia telangiectasia. Annu Rev Pathol 2012, 7:303-321.
    • (2012) Annu Rev Pathol , vol.7 , pp. 303-321
    • McKinnon, P.J.1
  • 77
    • 84870361153 scopus 로고    scopus 로고
    • Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity
    • Menotta M., Biagiotti S., Bianchi M., et al. Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity. J Biol Chem 2012, 287:41352-41363.
    • (2012) J Biol Chem , vol.287 , pp. 41352-41363
    • Menotta, M.1    Biagiotti, S.2    Bianchi, M.3
  • 78
    • 84867131893 scopus 로고    scopus 로고
    • The role of the neuro-astro-vascular unit in the etiology of ataxia telangiectasia
    • Meshulam L., Galron R., Kanner S., et al. The role of the neuro-astro-vascular unit in the etiology of ataxia telangiectasia. Front Pharmacol 2012, 3:157.
    • (2012) Front Pharmacol , vol.3 , pp. 157
    • Meshulam, L.1    Galron, R.2    Kanner, S.3
  • 79
    • 79961015789 scopus 로고    scopus 로고
    • Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype
    • Micol R., Ben Slama L., Suarez F., et al. Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol 2011, 128:382-389 e1.
    • (2011) J Allergy Clin Immunol , vol.128 , pp. 382-389 e1
    • Micol, R.1    Ben Slama, L.2    Suarez, F.3
  • 80
    • 80051759233 scopus 로고    scopus 로고
    • Infliximab in the treatment of a child with cutaneous granulomas associated with ataxia telangiectasia
    • Mitra A., Gooi J., Darling J., Newton-Bishop J.A. Infliximab in the treatment of a child with cutaneous granulomas associated with ataxia telangiectasia. J Am Acad Dermatol 2011, 65:676-677.
    • (2011) J Am Acad Dermatol , vol.65 , pp. 676-677
    • Mitra, A.1    Gooi, J.2    Darling, J.3    Newton-Bishop, J.A.4
  • 81
    • 58349092535 scopus 로고    scopus 로고
    • Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk
    • Mitui M., Nahas S.A., Du L.T., et al. Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. Hum Mutat 2009, 30:12-21.
    • (2009) Hum Mutat , vol.30 , pp. 12-21
    • Mitui, M.1    Nahas, S.A.2    Du, L.T.3
  • 82
    • 10744230604 scopus 로고    scopus 로고
    • Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
    • Moreira M.C., Klur S., Watanabe M., et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 2004, 36:225-227.
    • (2004) Nat Genet , vol.36 , pp. 225-227
    • Moreira, M.C.1    Klur, S.2    Watanabe, M.3
  • 83
    • 0033926402 scopus 로고    scopus 로고
    • Judgment of duration in individuals with ataxia-telangiectasia
    • Mostofsky S.H., Kunze J.C., Cutting L.E., et al. Judgment of duration in individuals with ataxia-telangiectasia. Dev Neuropsychol 2000, 17:63-74.
    • (2000) Dev Neuropsychol , vol.17 , pp. 63-74
    • Mostofsky, S.H.1    Kunze, J.C.2    Cutting, L.E.3
  • 84
    • 0032916269 scopus 로고    scopus 로고
    • Malignancies in pediatric patients with ataxia telangiectasia
    • Murphy R.C., Berdon W.E., Ruzal-Shapiro C., et al. Malignancies in pediatric patients with ataxia telangiectasia. Pediatr Radiol 1999, 29:225-230.
    • (1999) Pediatr Radiol , vol.29 , pp. 225-230
    • Murphy, R.C.1    Berdon, W.E.2    Ruzal-Shapiro, C.3
  • 85
    • 62149091065 scopus 로고    scopus 로고
    • Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes
    • Nahas S.A., Butch A.W., Du L., et al. Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes. Clin Chem 2009, 55:463-472.
    • (2009) Clin Chem , vol.55 , pp. 463-472
    • Nahas, S.A.1    Butch, A.W.2    Du, L.3
  • 86
    • 84857486516 scopus 로고    scopus 로고
    • Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia
    • Nakamura K., Du L., Tunuguntla R., et al. Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. Hum Mutat 2012, 33:198-208.
    • (2012) Hum Mutat , vol.33 , pp. 198-208
    • Nakamura, K.1    Du, L.2    Tunuguntla, R.3
  • 87
    • 84884822376 scopus 로고    scopus 로고
    • Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
    • Nemeth A.H., Kwasniewska A.C., Lise S., et al. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain 2013, 136:3106-3118.
    • (2013) Brain , vol.136 , pp. 3106-3118
    • Nemeth, A.H.1    Kwasniewska, A.C.2    Lise, S.3
  • 88
    • 80051793958 scopus 로고    scopus 로고
    • Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease?
    • Nissenkorn A., Levi Y.B., Vilozni D., et al. Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease?. J Pediatr 2011, 159:466-471 e1.
    • (2011) J Pediatr , vol.159 , pp. 466-471 e1
    • Nissenkorn, A.1    Levi, Y.B.2    Vilozni, D.3
  • 89
    • 84872875498 scopus 로고    scopus 로고
    • Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate
    • Nissenkorn A., Hassin-Baer S., Lerman S.F., et al. Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate. J Child Neurol 2013, 28:155-160.
    • (2013) J Child Neurol , vol.28 , pp. 155-160
    • Nissenkorn, A.1    Hassin-Baer, S.2    Lerman, S.F.3
  • 90
    • 1842607448 scopus 로고    scopus 로고
    • Immunodeficiency and infections in ataxia-telangiectasia
    • Nowak-Wegrzyn A., Crawford T.O., Winkelstein J.A., et al. Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr 2004, 144:505-511.
    • (2004) J Pediatr , vol.144 , pp. 505-511
    • Nowak-Wegrzyn, A.1    Crawford, T.O.2    Winkelstein, J.A.3
  • 91
    • 44949208286 scopus 로고    scopus 로고
    • The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders
    • O'Driscoll M., Jeggo P.A. The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders. DNA Repair (Amst) 2008, 7:1039-1050.
    • (2008) DNA Repair (Amst) , vol.7 , pp. 1039-1050
    • O'Driscoll, M.1    Jeggo, P.A.2
  • 92
    • 0035900911 scopus 로고    scopus 로고
    • Cancer in patients with ataxia-telangiectasia and in their relatives in the Nordic countries
    • Olsen J.H., Hahnemann J.M., Borresen-Dale A.L., et al. Cancer in patients with ataxia-telangiectasia and in their relatives in the Nordic countries. J Natl Cancer Inst 2001, 93:121-127.
    • (2001) J Natl Cancer Inst , vol.93 , pp. 121-127
    • Olsen, J.H.1    Hahnemann, J.M.2    Borresen-Dale, A.L.3
  • 93
    • 0018909831 scopus 로고
    • Cafe au lait spots in ataxia-telangiectasia (AT). Histochemical and ultrastructural study in one case
    • Ortonne J.P., Claudy A.L., Freycon F. Cafe au lait spots in ataxia-telangiectasia (AT). Histochemical and ultrastructural study in one case. Arch Dermatol Res 1980, 268:91-99.
    • (1980) Arch Dermatol Res , vol.268 , pp. 91-99
    • Ortonne, J.P.1    Claudy, A.L.2    Freycon, F.3
  • 94
    • 0025872158 scopus 로고
    • Cutaneous granulomatous lesions in patients with ataxia-telangiectasia
    • Paller A.S., Massey R.B., Curtis M.A., et al. Cutaneous granulomatous lesions in patients with ataxia-telangiectasia. J Pediatr 1991, 119:917-922.
    • (1991) J Pediatr , vol.119 , pp. 917-922
    • Paller, A.S.1    Massey, R.B.2    Curtis, M.A.3
  • 95
    • 0020658880 scopus 로고
    • Cerebellar cortex ultrastructure in ataxia-telangiectasia
    • Paula-Barbosa M.M., Ruela C., Tavares M.A., et al. Cerebellar cortex ultrastructure in ataxia-telangiectasia. Ann Neurol 1983, 13:297-302.
    • (1983) Ann Neurol , vol.13 , pp. 297-302
    • Paula-Barbosa, M.M.1    Ruela, C.2    Tavares, M.A.3
  • 97
    • 84858264276 scopus 로고    scopus 로고
    • ATM kinase inhibition in glial cells activates the innate immune response and causes neurodegeneration in Drosophila
    • Petersen A.J., Rimkus S.A., Wassarman D.A. ATM kinase inhibition in glial cells activates the innate immune response and causes neurodegeneration in Drosophila. Proc Natl Acad Sci U S A 2012, 109:E656-E664.
    • (2012) Proc Natl Acad Sci U S A , vol.109 , pp. E656-E664
    • Petersen, A.J.1    Rimkus, S.A.2    Wassarman, D.A.3
  • 98
    • 84877095701 scopus 로고    scopus 로고
    • The innate immune response transcription factor relish is necessary for neurodegeneration in a Drosophila model of ataxia-telangiectasia
    • Petersen A.J., Katzenberger R.J., Wassarman D.A. The innate immune response transcription factor relish is necessary for neurodegeneration in a Drosophila model of ataxia-telangiectasia. Genetics 2013, 194:133-142.
    • (2013) Genetics , vol.194 , pp. 133-142
    • Petersen, A.J.1    Katzenberger, R.J.2    Wassarman, D.A.3
  • 99
    • 80052847814 scopus 로고    scopus 로고
    • A role for vascular deficiency in retinal pathology in a mouse model of ataxia-telangiectasia
    • Raz-Prag D., Galron R., Segev-Amzaleg N., et al. A role for vascular deficiency in retinal pathology in a mouse model of ataxia-telangiectasia. Am J Pathol 2011, 179:1533-1541.
    • (2011) Am J Pathol , vol.179 , pp. 1533-1541
    • Raz-Prag, D.1    Galron, R.2    Segev-Amzaleg, N.3
  • 100
    • 84861357242 scopus 로고    scopus 로고
    • Experimental antioxidant therapy in ataxia telangiectasia
    • Reliene R., Schiestl R.H. Experimental antioxidant therapy in ataxia telangiectasia. Clin Med Oncol 2008, 2:431-436.
    • (2008) Clin Med Oncol , vol.2 , pp. 431-436
    • Reliene, R.1    Schiestl, R.H.2
  • 101
    • 34547521059 scopus 로고    scopus 로고
    • Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study
    • Riise R., Ygge J., Lindman C., et al. Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study. Acta Ophthalmol Scand 2007, 85:557-562.
    • (2007) Acta Ophthalmol Scand , vol.85 , pp. 557-562
    • Riise, R.1    Ygge, J.2    Lindman, C.3
  • 102
    • 0041843793 scopus 로고    scopus 로고
    • Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome
    • Ronnett G.V., Leopold D., Cai X., et al. Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome. Ann Neurol 2003, 54:206-218.
    • (2003) Ann Neurol , vol.54 , pp. 206-218
    • Ronnett, G.V.1    Leopold, D.2    Cai, X.3
  • 103
    • 84890888147 scopus 로고    scopus 로고
    • Pilot study of modified LMB-based therapy for children with ataxia-telangiectasia and advanced stage high grade mature B-cell malignancies
    • Sandlund J.T., Hudson M.M., Kennedy W., et al. Pilot study of modified LMB-based therapy for children with ataxia-telangiectasia and advanced stage high grade mature B-cell malignancies. Pediatr Blood Cancer 2014, 61:360-362.
    • (2014) Pediatr Blood Cancer , vol.61 , pp. 360-362
    • Sandlund, J.T.1    Hudson, M.M.2    Kennedy, W.3
  • 105
    • 0029057336 scopus 로고
    • A single ataxia telangiectasia gene with a product similar to PI-3 kinase
    • Savitsky K., Bar-Shira A., Gilad S., et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995, 268:1749-1753.
    • (1995) Science , vol.268 , pp. 1749-1753
    • Savitsky, K.1    Bar-Shira, A.2    Gilad, S.3
  • 106
    • 33750449351 scopus 로고    scopus 로고
    • ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome
    • Schneider J.G., Finck B.N., Ren J., et al. ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome. Cell Metab 2006, 4:377-389.
    • (2006) Cell Metab , vol.4 , pp. 377-389
    • Schneider, J.G.1    Finck, B.N.2    Ren, J.3
  • 107
    • 84896401390 scopus 로고    scopus 로고
    • Infections of the respiratory system in patients with ataxia-telangiectasia
    • Schroeder S.A., Zielen S. Infections of the respiratory system in patients with ataxia-telangiectasia. Pediatr Pulmonol 2014, 49:389-399.
    • (2014) Pediatr Pulmonol , vol.49 , pp. 389-399
    • Schroeder, S.A.1    Zielen, S.2
  • 108
    • 20444492917 scopus 로고    scopus 로고
    • Growth factor deficiency in patients with ataxia telangiectasia
    • Schubert R., Reichenbach J., Zielen S. Growth factor deficiency in patients with ataxia telangiectasia. Clin Exp Immunol 2005, 140:517-519.
    • (2005) Clin Exp Immunol , vol.140 , pp. 517-519
    • Schubert, R.1    Reichenbach, J.2    Zielen, S.3
  • 109
    • 67849101905 scopus 로고    scopus 로고
    • Gaze fixation deficits and their implication in ataxia-telangiectasia
    • Shaikh A.G., Marti S., Tarnutzer A.A., et al. Gaze fixation deficits and their implication in ataxia-telangiectasia. J Neurol Neurosurg Psychiatry 2009, 80:858-864.
    • (2009) J Neurol Neurosurg Psychiatry , vol.80 , pp. 858-864
    • Shaikh, A.G.1    Marti, S.2    Tarnutzer, A.A.3
  • 110
    • 79959372346 scopus 로고    scopus 로고
    • Ataxia telangiectasia: a "disease model" to understand the cerebellar control of vestibular reflexes
    • Shaikh A.G., Marti S., Tarnutzer A.A., et al. Ataxia telangiectasia: a "disease model" to understand the cerebellar control of vestibular reflexes. J Neurophysiol 2011, 105:3034-3041.
    • (2011) J Neurophysiol , vol.105 , pp. 3034-3041
    • Shaikh, A.G.1    Marti, S.2    Tarnutzer, A.A.3
  • 111
    • 84889596851 scopus 로고    scopus 로고
    • Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in ataxia-telangiectasia
    • Shaikh A.G., Marti S., Tarnutzer A.A., et al. Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in ataxia-telangiectasia. J Neurol 2013, 260:2728-2735.
    • (2013) J Neurol , vol.260 , pp. 2728-2735
    • Shaikh, A.G.1    Marti, S.2    Tarnutzer, A.A.3
  • 112
    • 84879537085 scopus 로고    scopus 로고
    • Disorders of upper limb movements in ataxia-telangiectasia
    • Shaikh A.G., Zee D.S., Mandir A.S., et al. Disorders of upper limb movements in ataxia-telangiectasia. PLoS One 2013, 8:e67042.
    • (2013) PLoS One , vol.8 , pp. e67042
    • Shaikh, A.G.1    Zee, D.S.2    Mandir, A.S.3
  • 113
    • 84880367902 scopus 로고    scopus 로고
    • The mTOR pathway negatively controls ATM by up-regulating miRNAs
    • Shen C., Houghton P.J. The mTOR pathway negatively controls ATM by up-regulating miRNAs. Proc Natl Acad Sci U S A 2013, 110:11869-11874.
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 11869-11874
    • Shen, C.1    Houghton, P.J.2
  • 114
    • 84875423827 scopus 로고    scopus 로고
    • The ATM protein kinase: regulating the cellular response to genotoxic stress, and more
    • Shiloh Y., Ziv Y. The ATM protein kinase: regulating the cellular response to genotoxic stress, and more. Nat Rev Mol Cell Biol 2013, 14:197-210.
    • (2013) Nat Rev Mol Cell Biol , vol.14 , pp. 197-210
    • Shiloh, Y.1    Ziv, Y.2
  • 115
    • 84887545267 scopus 로고    scopus 로고
    • Subtle microstructural defects of the cerebellum in a knock-in mouse model of DYT1 dystonia
    • Song C.H., Bernhard D., Hess E.J., et al. Subtle microstructural defects of the cerebellum in a knock-in mouse model of DYT1 dystonia. Neurobiol Dis 2014, 62:372-380.
    • (2014) Neurobiol Dis , vol.62 , pp. 372-380
    • Song, C.H.1    Bernhard, D.2    Hess, E.J.3
  • 116
    • 0024445487 scopus 로고
    • Ataxia telangiectasia: a reappraisal of the ocular motor features and their value in the diagnosis of atypical cases
    • Stell R., Bronstein A.M., Plant G.T., et al. Ataxia telangiectasia: a reappraisal of the ocular motor features and their value in the diagnosis of atypical cases. Mov Disord 1989, 4:320-329.
    • (1989) Mov Disord , vol.4 , pp. 320-329
    • Stell, R.1    Bronstein, A.M.2    Plant, G.T.3
  • 117
    • 0033544724 scopus 로고    scopus 로고
    • The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder
    • Stewart G.S., Maser R.S., Stankovic T., et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 1999, 99:577-587.
    • (1999) Cell , vol.99 , pp. 577-587
    • Stewart, G.S.1    Maser, R.S.2    Stankovic, T.3
  • 118
    • 0035839431 scopus 로고    scopus 로고
    • Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271 T->G mutations, showing a less severe phenotype
    • Stewart G.S., Last J.I., Stankovic T., et al. Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271 T->G mutations, showing a less severe phenotype. J Biol Chem 2001, 276:30133-30141.
    • (2001) J Biol Chem , vol.276 , pp. 30133-30141
    • Stewart, G.S.1    Last, J.I.2    Stankovic, T.3
  • 119
    • 0001490037 scopus 로고
    • Contribution à l'étude de l'indépendance de l'athétose double idiopathique et congénitale. Atteinte familiale, syndrome dystrophique, signe du résau vasculaire conjonctival, intégrité psychique
    • Syllaba L., Henner K. Contribution à l'étude de l'indépendance de l'athétose double idiopathique et congénitale. Atteinte familiale, syndrome dystrophique, signe du résau vasculaire conjonctival, intégrité psychique. Rev Neurol (Paris) 1926, 1:541-560.
    • (1926) Rev Neurol (Paris) , vol.1 , pp. 541-560
    • Syllaba, L.1    Henner, K.2
  • 120
    • 84878281982 scopus 로고    scopus 로고
    • Induced pluripotent stem cells in medicine and biology
    • Takahashi K., Yamanaka S. Induced pluripotent stem cells in medicine and biology. Development 2013, 140:2457-2461.
    • (2013) Development , vol.140 , pp. 2457-2461
    • Takahashi, K.1    Yamanaka, S.2
  • 121
    • 39149086020 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from fibroblast cultures
    • Takahashi K., Okita K., Nakagawa M., et al. Induction of pluripotent stem cells from fibroblast cultures. Nat Protoc 2007, 2:3081-3089.
    • (2007) Nat Protoc , vol.2 , pp. 3081-3089
    • Takahashi, K.1    Okita, K.2    Nakagawa, M.3
  • 122
    • 34547138954 scopus 로고    scopus 로고
    • Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends
    • Takahashi T., Tada M., Igarashi S., et al. Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends. Nucleic Acids Res 2007, 35:3797-3809.
    • (2007) Nucleic Acids Res , vol.35 , pp. 3797-3809
    • Takahashi, T.1    Tada, M.2    Igarashi, S.3
  • 123
    • 0038823656 scopus 로고    scopus 로고
    • Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI
    • Tavani F., Zimmerman R.A., Berry G.T., et al. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology 2003, 45:315-319.
    • (2003) Neuroradiology , vol.45 , pp. 315-319
    • Tavani, F.1    Zimmerman, R.A.2    Berry, G.T.3
  • 124
    • 26244435498 scopus 로고    scopus 로고
    • Molecular pathology of ataxia telangiectasia
    • Taylor A.M., Byrd P.J. Molecular pathology of ataxia telangiectasia. J Clin Pathol 2005, 58:1009-1015.
    • (2005) J Clin Pathol , vol.58 , pp. 1009-1015
    • Taylor, A.M.1    Byrd, P.J.2
  • 125
    • 3242889151 scopus 로고    scopus 로고
    • Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis
    • Taylor A.M., Groom A., Byrd P.J. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA Repair (Amst) 2004, 3:1219-1225.
    • (2004) DNA Repair (Amst) , vol.3 , pp. 1219-1225
    • Taylor, A.M.1    Groom, A.2    Byrd, P.J.3
  • 126
    • 84862630341 scopus 로고    scopus 로고
    • A new role for ATM: regulating mitochondrial function and mitophagy
    • Valentin-Vega Y.A., Kastan M.B. A new role for ATM: regulating mitochondrial function and mitophagy. Autophagy 2012, 8:840-841.
    • (2012) Autophagy , vol.8 , pp. 840-841
    • Valentin-Vega, Y.A.1    Kastan, M.B.2
  • 127
    • 84856893251 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in ataxia-telangiectasia
    • Valentin-Vega Y.A., Maclean K.H., Tait-Mulder J., et al. Mitochondrial dysfunction in ataxia-telangiectasia. Blood 2012, 119:1490-1500.
    • (2012) Blood , vol.119 , pp. 1490-1500
    • Valentin-Vega, Y.A.1    Maclean, K.H.2    Tait-Mulder, J.3
  • 128
    • 84891632601 scopus 로고    scopus 로고
    • Social cognition and the cerebellum: a meta-analysis of over 350 fMRI studies
    • Van Overwalle F., Baetens K., Marien P., et al. Social cognition and the cerebellum: a meta-analysis of over 350 fMRI studies. Neuroimage 2014, 86:554-572.
    • (2014) Neuroimage , vol.86 , pp. 554-572
    • Van Overwalle, F.1    Baetens, K.2    Marien, P.3
  • 129
    • 84857062467 scopus 로고    scopus 로고
    • Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study
    • Verhagen M.M., Last J.I., Hogervorst F.B., et al. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. Hum Mutat 2012, 33:561-571.
    • (2012) Hum Mutat , vol.33 , pp. 561-571
    • Verhagen, M.M.1    Last, J.I.2    Hogervorst, F.B.3
  • 130
    • 84861532082 scopus 로고    scopus 로고
    • Neuropathology in classical and variant ataxia-telangiectasia
    • Verhagen M.M., Martin J.J., Van Deuren M., et al. Neuropathology in classical and variant ataxia-telangiectasia. Neuropathology 2012, 32:234-244.
    • (2012) Neuropathology , vol.32 , pp. 234-244
    • Verhagen, M.M.1    Martin, J.J.2    Van Deuren, M.3
  • 131
    • 80052236070 scopus 로고    scopus 로고
    • Cognitive and speech-language performance in children with ataxia telangiectasia
    • Vinck A., Verhagen M.M., Gerven M., et al. Cognitive and speech-language performance in children with ataxia telangiectasia. Dev Neurorehabil 2011, 14:315-322.
    • (2011) Dev Neurorehabil , vol.14 , pp. 315-322
    • Vinck, A.1    Verhagen, M.M.2    Gerven, M.3
  • 132
    • 0022308073 scopus 로고
    • Sequence of cellular events in cerebellar ontogeny relevant to expression of neuronal abnormalities in ataxia-telangiectasia
    • Vinters H.V., Gatti R.A., Rakic P. Sequence of cellular events in cerebellar ontogeny relevant to expression of neuronal abnormalities in ataxia-telangiectasia. Kroc Found Ser 1985, 19:233-255.
    • (1985) Kroc Found Ser , vol.19 , pp. 233-255
    • Vinters, H.V.1    Gatti, R.A.2    Rakic, P.3
  • 133
    • 33846447115 scopus 로고    scopus 로고
    • Proton spectroscopy and imaging at 3 T in ataxia-telangiectasia
    • Wallis L.I., Griffiths P.D., Ritchie S.J., et al. Proton spectroscopy and imaging at 3 T in ataxia-telangiectasia. AJNR Am J Neuroradiol 2007, 28:79-83.
    • (2007) AJNR Am J Neuroradiol , vol.28 , pp. 79-83
    • Wallis, L.I.1    Griffiths, P.D.2    Ritchie, S.J.3
  • 134
    • 84880811744 scopus 로고    scopus 로고
    • Animal models for dystonia
    • Wilson B.K., Hess E.J. Animal models for dystonia. Mov Disord 2013, 28:982-989.
    • (2013) Mov Disord , vol.28 , pp. 982-989
    • Wilson, B.K.1    Hess, E.J.2
  • 135
    • 0026612460 scopus 로고
    • Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals
    • Woods C.G., Taylor A.M. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 1992, 82:169-179.
    • (1992) Q J Med , vol.82 , pp. 169-179
    • Woods, C.G.1    Taylor, A.M.2
  • 136
    • 84876109168 scopus 로고    scopus 로고
    • Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia
    • Worth P.F., Srinivasan V., Smith A., et al. Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia. Mov Disord 2013, 28:524-528.
    • (2013) Mov Disord , vol.28 , pp. 524-528
    • Worth, P.F.1    Srinivasan, V.2    Smith, A.3
  • 137
    • 84866291809 scopus 로고    scopus 로고
    • A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia
    • Zannolli R., Buoni S., Betti G., et al. A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia. Mov Disord 2012, 27:1312-1316.
    • (2012) Mov Disord , vol.27 , pp. 1312-1316
    • Zannolli, R.1    Buoni, S.2    Betti, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.