-
1
-
-
0022992181
-
The incidence and gene frequency of Ataxia-telangiectasia in the United States
-
Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT. The incidence and gene frequency of ataxia telangiectasia in the United States. Am J Hum Genet. 1986;39(5):573-83. (Pubitemid 17071140)
-
(1986)
American Journal of Human Genetics
, vol.39
, Issue.5
, pp. 573-583
-
-
Swift, M.1
Morrell, D.2
Cromartie, E.3
-
2
-
-
0025236412
-
Unusual features in the inheritance of ataxia telangiectasia
-
Woods CG, Bundey SE, Taylor AM. Unusual features in the inheritance of ataxia telangiectasia. Hum Genet. 1990;84(6):555-62. (Pubitemid 20158818)
-
(1990)
Human Genetics
, vol.84
, Issue.6
, pp. 555-562
-
-
Woods, C.G.1
Bundey, S.E.2
Taylor, A.M.R.3
-
4
-
-
0024205754
-
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23
-
DOI 10.1038/336577a0
-
Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. 1988;336(6199):577-80. (Pubitemid 19007315)
-
(1988)
Nature
, vol.336
, Issue.6199
, pp. 577-580
-
-
Gatti, R.A.1
Berkel, I.2
Boder, E.3
Braedt, G.4
Charmley, P.5
Concannon, P.6
Ersoy, F.7
Foroud, T.8
Jaspers, N.G.J.9
Lange, K.10
Lathrop, G.M.11
Leppert, M.12
Nakamura, Y.13
O'Connell, P.14
Paterson, M.15
Salser, W.16
Sanal, O.17
Silver, J.18
Sparkes, R.S.19
-
5
-
-
0029057336
-
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
-
Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 1995;268(5218):1749-53.
-
(1995)
Science
, vol.268
, Issue.5218
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilad, S.3
Rotman, G.4
Ziv, Y.5
Vanagaite, L.6
-
6
-
-
78651043982
-
Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection
-
Boder E, Sedgwick RP. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics. 1958;21(4):526-54.
-
(1958)
Pediatrics
, vol.21
, Issue.4
, pp. 526-554
-
-
Boder, E.1
Sedgwick, R.P.2
-
8
-
-
0015524106
-
Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia
-
Waldmann TA, McIntire KR. Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia. Lancet. 1972;2(7787):1112-5.
-
(1972)
Lancet
, vol.2
, Issue.7787
, pp. 1112-1115
-
-
Waldmann, T.A.1
McIntire, K.R.2
-
9
-
-
8244245266
-
Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms
-
Watters D, Khanna KK, Beamish H, Birrell G, Spring K, Kedar P, et al. Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. Oncogene. 1997;14(16):1911-21. (Pubitemid 27217804)
-
(1997)
Oncogene
, vol.14
, Issue.16
, pp. 1911-1921
-
-
Watters, D.1
Khanna, K.K.2
Beamish, H.3
Birrell, G.4
Spring, K.5
Kedar, P.6
Gatei, M.7
Stenzel, D.8
Hobson, K.9
Kozlov, S.10
Zhang, N.11
Farrell, A.12
Ramsay, J.13
Gatti, R.14
Lavin, M.15
-
10
-
-
0029829249
-
Defect in multiple cell cycle checkpoints in ataxia-telangiectasia postirradiation
-
DOI 10.1074/jbc.271.34.20486
-
Beamish H, Williams R, Chen P, Lavin MF. Defect in multiple cell cycle checkpoints in ataxia-telangiectasia postirradiation. J Biol Chem. 1996;271(34):20486-93. (Pubitemid 26281821)
-
(1996)
Journal of Biological Chemistry
, vol.271
, Issue.34
, pp. 20486-20493
-
-
Beamish, H.1
Williams, R.2
Ghen, P.3
Lavin, M.F.4
-
11
-
-
0021978722
-
On the nature of a defect in cells from individuals with ataxia-telangiectasia
-
Cornforth MN, Bedford JS. On the nature of a defect in cells from individuals with ataxia-telangiectasia. Science. 1985;227(4694):1589-91. (Pubitemid 15119467)
-
(1985)
Science
, vol.227
, Issue.4694
, pp. 1589-1591
-
-
Cornforth, M.N.1
Bedford, J.S.2
-
12
-
-
0020062586
-
Abnormal regulation of DNA replication and increased lethality in ataxia telangiectasia cells exposed to carcinogenic agents
-
Jaspers NG, de Wit J, Regulski MR, Bootsma D. Abnormal regulation of DNA replication and increased lethality in ataxia telangiectasia cells exposed to carcinogenic agents. Cancer Res. 1982;42(1):335-41. (Pubitemid 12207288)
-
(1982)
Cancer Research
, vol.42
, Issue.1
, pp. 335-341
-
-
Jaspers, N.G.J.1
De Wit, J.2
Regulski, M.R.3
Bootsma, D.4
-
13
-
-
0024148621
-
Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: A survey of 50 patients
-
Jaspers NG, Gatti RA, Baan C, Linssen PC, Bootsma D. Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet. 1988;49(4):259-63. (Pubitemid 19154985)
-
(1988)
Cytogenetics and Cell Genetics
, vol.49
, Issue.4
, pp. 259-263
-
-
Jaspers, N.G.J.1
Gatti, R.A.2
Baan, C.3
Linssen, P.C.M.L.4
Bootsma, D.5
-
14
-
-
0026733077
-
The contribution of DNA and chromosome repair deficiencies to the radiosensitivity of ataxia-telangiectasia
-
Pandita TK, HittelmanWN. The contribution of DNA and chromosome repair deficiencies to the radiosensitivity of ataxia-telangiectasia. Radiat Res. 1992;131(2):214-23.
-
(1992)
Radiat Res
, vol.131
, Issue.2
, pp. 214-223
-
-
Pandita, T.K.1
Hittelman, W.N.2
-
15
-
-
0015882277
-
In vitro chromosomal radiosensitivity in "chromosomal breakage syndromes"
-
Higurashi M, Conen PE. In vitro chromosomal radiosensitivity in "chromosomal breakage syndromes". Cancer. 1973;32(2):380-3.
-
(1973)
Cancer
, vol.32
, Issue.2
, pp. 380-383
-
-
Higurashi, M.1
Conen, P.E.2
-
16
-
-
0017280394
-
Defective excision repair of gamma-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts
-
Paterson MC, Smith BP, Lohman PH, Anderson AK, Fishman L. Defective excision repair of gamma-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts. Nature. 1976;260(5550):444-7.
-
(1976)
Nature
, vol.260
, Issue.5550
, pp. 444-447
-
-
Paterson, M.C.1
Smith, B.P.2
Lohman, P.H.3
Anderson, A.K.4
Fishman, L.5
-
17
-
-
49449120362
-
The production and repair of double strand breaks in cells from normal humans and from patients with ataxia telangiectasia
-
Lehman AR, Stevens S. The production and repair of double strand breaks in cells from normal humans and from patients with ataxia telangiectasia. Biochim Biophys Acta. 1977;474(1):49-60.
-
(1977)
Biochim Biophys Acta
, vol.474
, Issue.1
, pp. 49-60
-
-
Lehman, A.R.1
Stevens, S.2
-
18
-
-
0017864466
-
Ataxia telangiectasia. Evaluation of radiosensitivity in cultured skin fibroblasts as a diagnostic test
-
Cox R, Hosking GP, Wilson J. Ataxia telangiectasia. Evaluation of radiosensitivity in cultured skin fibroblasts as a diagnostic test. Arch Dis Child. 1978;53(5):386-90. (Pubitemid 8338858)
-
(1978)
Archives of Disease in Childhood
, vol.53
, Issue.5
, pp. 386-390
-
-
Cox, R.1
Hosking, G.P.2
Wilson, J.3
-
19
-
-
0016786321
-
Ataxia telangiectasia: A human mutation with abnormal radiation sensitivity
-
Taylor AM, Harnden DG, Arlett CF, Harcourt SA, Lehmann AR, Stevens S, et al. Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature. 1975;258(5534):427-9.
-
(1975)
Nature
, vol.258
, Issue.5534
, pp. 427-429
-
-
Taylor, A.M.1
Harnden, D.G.2
Arlett, C.F.3
Harcourt, S.A.4
Lehmann, A.R.5
Stevens, S.6
-
20
-
-
0018742394
-
Unusual sensitivity of ataxia telangiectasia cells to bleomycin
-
Taylor AM, Rosney CM, Campbell JB. Unusual sensitivity of ataxia telangiectasia cells to bleomycin. Cancer Res. 1979;39(3):1046-50. (Pubitemid 9135132)
-
(1979)
Cancer Research
, vol.39
, Issue.3
, pp. 1046-1050
-
-
Taylor, A.M.R.1
Rosney, C.M.2
Campbell, J.B.3
-
21
-
-
0016588356
-
DNA strained breakage repair in ataxia telangiectasia fibroblast-like cells
-
Vincent Jr RA, Sheridan 3rd RB, Huang PC. DNA strained breakage repair in ataxia telangiectasia fibroblast-like cells. Mutat Res. 1975;33(2-3):357-66.
-
(1975)
Mutat Res
, vol.33
, Issue.2-3
, pp. 357-366
-
-
Vincent Jr., R.A.1
Sheridan III, R.B.2
Huang, P.C.3
-
22
-
-
0019166395
-
Effect of ionizing radiation on DNA synthesis in ataxia telangiectasia cells
-
Houldsworth J, Lavin MF. Effect of ionizing radiation on DNA synthesis in ataxia telangiectasia cells. Nucleic Acids Res. 1980;8(16):3709-20. (Pubitemid 11246365)
-
(1980)
Nucleic Acids Research
, vol.8
, Issue.16
, pp. 3709-3720
-
-
Houldsworth, J.1
Lavin, M.F.2
-
23
-
-
0030750923
-
Hypersensitivity of ataxia telangiectasia fibroblasts to ionizing radiation is associated with a repair deficiency of DNA double-strand breaks
-
DOI 10.1080/095530097143266
-
Foray N, Priestley A, Alsbeih G, Badie C, Capulas EP, Arlett CF, et al. Hypersensitivity of ataxia telangiectasia fibroblasts to ionizing radiation is associated with a repair deficiency of DNA doublestrand breaks. Int J Radiat Biol. 1997;72(3):271-83. (Pubitemid 27390822)
-
(1997)
International Journal of Radiation Biology
, vol.72
, Issue.3
, pp. 271-283
-
-
Foray, N.1
Priestley, A.2
Alsbeih, G.3
Badie, C.4
Capulas, E.P.5
Arlett, C.F.6
Malaise, E.P.7
-
25
-
-
3242876404
-
Ataxia-telangiectasia, an evolving phenotype
-
DOI 10.1016/j.dnarep.2004.04.010, PII S1568786404001417
-
Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair. 2004;3(8-9):1187-96. (Pubitemid 38997962)
-
(2004)
DNA Repair
, vol.3
, Issue.8-9
, pp. 1187-1196
-
-
Chun, H.H.1
Gatti, R.A.2
-
26
-
-
84881480405
-
Twelve novel ATM mutations identified in Chinese ataxia telangiectasia patients
-
Huang Y, Yang L, Wang JC, Yang F, Xiao Y, Xia RJ, et al. Twelve novel ATM mutations identified in Chinese ataxia telangiectasia patients. Neruomol Med. 2013;15(3):536-40.
-
(2013)
Neruomol Med
, vol.15
, Issue.3
, pp. 536-540
-
-
Huang, Y.1
Yang, L.2
Wang, J.C.3
Yang, F.4
Xiao, Y.5
Xia, R.J.6
-
27
-
-
0028926277
-
An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: A probable ataxia telangiectasia variant
-
de Graaf AS, de Jong G, Kleijer WJ. An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: a probable ataxia telangiectasia variant. Clin Neurol Neurosurg. 1995;97(1):1-7.
-
(1995)
Clin Neurol Neurosurg
, vol.97
, Issue.1
, pp. 1-7
-
-
De Graaf, A.S.1
De Jong, G.2
Kleijer, W.J.3
-
28
-
-
15144353774
-
Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha- fetoprotein
-
DOI 10.1002/ana.410440220
-
Watanabe M, Sugai Y, Concannon P, Koenig M, Schmitt M, Sato M, et al. Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein. Ann Neurol. 1998;44(2):265-9. (Pubitemid 28374118)
-
(1998)
Annals of Neurology
, vol.44
, Issue.2
, pp. 265-269
-
-
Watanabe, M.1
Sugai, Y.2
Concannon, P.3
Koenig, M.4
Schmitt, M.5
Sato, M.6
Shizuka, M.7
Mizushima, K.8
Ikeda, Y.9
Tomidokoro, Y.10
Okamoto, K.11
Shoji, M.12
-
29
-
-
84861532082
-
Neuropathology in classical and variant ataxia-telangiectasia
-
Verhagen MM, Martin JJ, van Deuren M, Ceuterick-de Groote C, Weemaes CM, Kremer BH, et al. Neuropathology in classical and variant ataxia-telangiectasia. Neuropathol Off J Jpn Soc Neuropathol. 2012;32(3):234-44.
-
(2012)
Neuropathol off J Jpn Soc Neuropathol
, vol.32
, Issue.3
, pp. 234-244
-
-
Verhagen, M.M.1
Martin, J.J.2
Van Deuren, M.3
Ceuterick-De Groote, C.4
Weemaes, C.M.5
Kremer, B.H.6
-
30
-
-
0017149398
-
Neuropathologic changes in ataxia-telangiectasia
-
De Leon GA, Grover WD, Huff DS. Neuropathologic changes in ataxia-telangiectasia. Neurology. 1976;26(10):947-51.
-
(1976)
Neurology
, vol.26
, Issue.10
, pp. 947-951
-
-
De Leon, G.A.1
Grover, W.D.2
Huff, D.S.3
-
31
-
-
0018724785
-
Ataxia-telangiectasia. Report of a case with Lewy bodies and vascular abnormalities within cerebral tissue
-
Agamanolis DP, Greenstein JI. Ataxia-telangiectasia. Report of a case with Lewy bodies and vascular abnormalities within cerebral tissue. J Neuropathol Exp Neurol. 1979;38(5):475-89. (Pubitemid 10221352)
-
(1979)
Journal of Neuropathology and Experimental Neurology
, vol.38
, Issue.5
, pp. 475-489
-
-
Agamanolis, D.P.1
Greenstein, J.I.2
-
33
-
-
0023930298
-
Cytoskeletal pathology in ataxia-telangiectasia
-
Monaco S, Nardelli E, Moretto G, Cavallaro T, Rizzuto N. Cytoskeletal pathology in ataxia-telangiectasia. Clin Neuropathol. 1988;7(1):44-6.
-
(1988)
Clin Neuropathol
, vol.7
, Issue.1
, pp. 44-46
-
-
Monaco, S.1
Nardelli, E.2
Moretto, G.3
Cavallaro, T.4
Rizzuto, N.5
-
34
-
-
0014512006
-
Histopathologic brain changes in association with ataxia-telangiectasia
-
Terplan KL, Krauss RF. Histopathologic brain changes in association with ataxia-telangiectasia. Neurology. 1969;19(5):446-54.
-
(1969)
Neurology
, vol.19
, Issue.5
, pp. 446-454
-
-
Terplan, K.L.1
Krauss, R.F.2
-
35
-
-
0013861757
-
A case of ataxia-telangiectasia with lesions in the spinal cord
-
Sourander P, Bonnevier JO, Olsson Y. A case of ataxia-telangiectasia with lesions in the spinal cord. Acta Neurol Scand. 1966;42(3):354-66.
-
(1966)
Acta Neurol Scand
, vol.42
, Issue.3
, pp. 354-366
-
-
Sourander, P.1
Bonnevier, J.O.2
Olsson, Y.3
-
36
-
-
0009483355
-
Pathological findings in three cases of ataxia-telangiectasia
-
Stritch SJ. Pathological findings in three cases of ataxia- telangiectasia. J Neurol Neurosurg Pyschiatry. 1966;29:489-99.
-
(1966)
J Neurol Neurosurg Pyschiatry
, vol.29
, pp. 489-499
-
-
Stritch, S.J.1
-
37
-
-
0014045226
-
Louis-bar's syndrome (ataxia-telangiectasia). Neuropathologic observations
-
Solitare GB, Lopez VF. Louis-bar's syndrome (ataxia-telangiectasia). Neuropathologic observations. Neurology. 1967;17(1):23-31.
-
(1967)
Neurology
, vol.17
, Issue.1
, pp. 23-31
-
-
Solitare, G.B.1
Lopez, V.F.2
-
38
-
-
0014387217
-
Louis-Bar's syndrome (ataxia-telangiectasia). Anatomic considerations with emphasis on neuropathologic observations
-
Solitare GB. Louis-Bar's syndrome (ataxia-telangiectasia). Anatomic considerations with emphasis on neuropathologic observations. Neurology. 1968;18(12):1180-6.
-
(1968)
Neurology
, vol.18
, Issue.12
, pp. 1180-1186
-
-
Solitare, G.B.1
-
39
-
-
0014347503
-
Pathological observations in ataxia-telangiectasia. A report of five cases
-
Aguilar MJ, Kamoshita S, Landing BH, Boder E, Sedgwick RP. Pathological observations in ataxia-telangiectasia. A report of five cases. J Neuropathol Exp Neurol. 1968;27(4):659-76.
-
(1968)
J Neuropathol Exp Neurol
, vol.27
, Issue.4
, pp. 659-676
-
-
Aguilar, M.J.1
Kamoshita, S.2
Landing, B.H.3
Boder, E.4
Sedgwick, R.P.5
-
40
-
-
84980140523
-
An autopsy case of ataxia-telangiectasia
-
Itatsu Y, Uno Y. An autopsy case of ataxia-telangiectasia. Acta Pathologica Japonica. 1969;19(2):229-39.
-
(1969)
Acta Pathologica Japonica
, vol.19
, Issue.2
, pp. 229-239
-
-
Itatsu, Y.1
Uno, Y.2
-
41
-
-
0014164020
-
Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis
-
Gotoff SP, Amirmokri E, Liebner EJ. Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis. Am J Dis Child. 1967;114(6):617-25.
-
(1967)
Am J Dis Child
, vol.114
, Issue.6
, pp. 617-625
-
-
Gotoff, S.P.1
Amirmokri, E.2
Liebner, E.J.3
-
42
-
-
0020658880
-
Cerebellar cortex ultrastructure in ataxia-telangiectasia
-
DOI 10.1002/ana.410130312
-
Paula-Barbosa MM, Ruela C, Tavares MA, Pontes C, Saraiva A, Cruz C. Cerebellar cortex ultrastructure in ataxia-telangiectasia. Ann Neurol. 1983;13(3):297-302. (Pubitemid 13158538)
-
(1983)
Annals of Neurology
, vol.13
, Issue.3
, pp. 297-302
-
-
Paula, B.M.M.1
Ruela, C.2
Tavares, M.A.3
-
43
-
-
0031945722
-
Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: A clinicopathological observation in three siblings
-
DOI 10.1007/s004150050210
-
Larnaout A, Belal S, Ben Hamida C, Ben Hamida M, Hentati F. Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: a clinicopathological observation in three siblings. J Neurol. 1998;245(4):231-5. (Pubitemid 28192698)
-
(1998)
Journal of Neurology
, vol.245
, Issue.4
, pp. 231-235
-
-
Larnaout, A.1
Belal, S.2
Ben, H.C.3
Ben, H.M.4
Hentati, F.5
-
44
-
-
0014442554
-
Ataxia-telangiectasia. A report of two cases in siblings presenting a picture of progressive spinal muscular atrophy
-
Goodman WN, Cooper WC, Kessler GB, Fischer MS, Gardner MB. Ataxia-telangiectasia. A report of two cases in siblings presenting a picture of progressive spinal muscular atrophy. Bull Los Angel Neurol Soc. 1969;34(1):1-22.
-
(1969)
Bull Los Angel Neurol Soc
, vol.34
, Issue.1
, pp. 1-22
-
-
Goodman, W.N.1
Cooper, W.C.2
Kessler, G.B.3
Fischer, M.S.4
Gardner, M.B.5
-
45
-
-
0032543723
-
Atm expression patterns suggest a contribution from the peripheral nervous system to the phenotype of ataxia-telangiectasia
-
DOI 10.1016/S0306-4522(98)00117-1, PII S0306452298001171
-
Soares HD, Morgan JI, McKinnon PJ. Atm expression patterns suggest a contribution from the peripheral nervous system to the phenotype of ataxia-telangiectasia. Neuroscience. 1998;86(4):1045-54. (Pubitemid 28318531)
-
(1998)
Neuroscience
, vol.86
, Issue.4
, pp. 1045-1054
-
-
Soares, H.D.1
Morgan, J.I.2
McKinnon, P.J.3
-
46
-
-
0035011079
-
Superoxide stress identifies neurons at risk in a model of ataxia-telangiectasia
-
DOI 10.1002/ana.1005
-
Quick KL, Dugan LL. Superoxide stress identifies neurons at risk in a model of ataxia-telangiectasia. Ann Neurol. 2001;49(5):627-35. (Pubitemid 32429789)
-
(2001)
Annals of Neurology
, vol.49
, Issue.5
, pp. 627-635
-
-
Quick, K.L.1
Dugan, L.L.2
-
47
-
-
0032555458
-
Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during development
-
DOI 10.1016/S0304-3940(98)00576-X, PII S030439409800576X
-
Oka A, Takashima S. Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during development. Neurosci Lett. 1998;252(3):195-8. (Pubitemid 28400341)
-
(1998)
Neuroscience Letters
, vol.252
, Issue.3
, pp. 195-198
-
-
Oka, A.1
Takashima, S.2
-
48
-
-
35348979671
-
ATM, the Mre11/Rad50/Nbs1 complex, and topoisomerase I are concentrated in the nucleus of Purkinje neurons in the juvenile human brain
-
DOI 10.1016/j.dnarep.2007.06.011, PII S1568786407002212
-
Gorodetsky E, Calkins S, Ahn J, Brooks PJ. ATM, the Mre11/ Rad50/Nbs1 complex, and topoisomerase I are concentrated in the nucleus of Purkinje neurons in the juvenile human brain. DNA Repair. 2007;6(11):1698-707. (Pubitemid 47600113)
-
(2007)
DNA Repair
, vol.6
, Issue.11
, pp. 1698-1707
-
-
Gorodetsky, E.1
Calkins, S.2
Ahn, J.3
Brooks, P.J.4
-
49
-
-
0025107807
-
Response of fibroblast cultures from ataxia-telangiectasia patients to oxidative stress
-
Yi M, Rosin MP, Anderson CK. Response of fibroblast cultures from ataxia-telangiectasia patients to oxidative stress. Cancer Lett. 1990;54(1-2):43-50. (Pubitemid 20333711)
-
(1990)
Cancer Letters
, vol.54
, Issue.1-2
, pp. 43-50
-
-
Yi, M.1
Rosin, M.P.2
Anderson, C.K.3
-
50
-
-
0036019936
-
Elevated oxidative stress in patients with Ataxia telangiectasia
-
Reichenbach J, Schubert R, Schindler D, Muller K, Bohles H, Zielen S. Elevated oxidative stress in patients with ataxia telangiectasia. Antioxid Redox Signal. 2002;4(3):465-9. (Pubitemid 34753385)
-
(2002)
Antioxidants and Redox Signaling
, vol.4
, Issue.3
, pp. 465-469
-
-
Reichenbach, J.1
Schubert, R.2
Schindler, D.3
Muller, K.4
Bohles, H.5
Zielen, S.6
-
51
-
-
0031259793
-
Ataxia-telangiectasia: Is ATM a sensor of oxidative damage and stress?
-
Rotman G, Shiloh Y. Ataxia-telangiectasia: is ATM a sensor of oxidative damage and stress? BioEssays News Rev Mol Cell Dev Biol. 1997;19(10):911-7. (Pubitemid 27447199)
-
(1997)
BioEssays
, vol.19
, Issue.10
, pp. 911-917
-
-
Rotman, G.1
Shiloh, Y.2
-
52
-
-
0033578411
-
Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs
-
DOI 10.1073/pnas.96.17.9915
-
Barlow C, Dennery PA, Shigenaga MK, Smith MA, Morrow JD, Roberts 2nd LJ, et al. Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs. ProcNatl Acad Sci U S A. 1999;96(17):9915-9. (Pubitemid 29398832)
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, Issue.17
, pp. 9915-9919
-
-
Barlow, C.1
Dennery, P.A.2
Shigenaga, M.K.3
Smith, M.A.4
Morrow, J.D.5
Roberts II, L.J.6
Wynshaw-Boris, A.7
Levine, R.L.8
-
53
-
-
0034697333
-
Protective roles for ATM in cellular response to oxidative stress
-
DOI 10.1016/S0014-5793(00)01422-8, PII S0014579300014228
-
Takao N, Li Y, Yamamoto K. Protective roles for ATM in cellular response to oxidative stress. FEBS Lett. 2000;472(1):133-6. (Pubitemid 30224601)
-
(2000)
FEBS Letters
, vol.472
, Issue.1
, pp. 133-136
-
-
Takao, N.1
Li, Y.2
Yamamoto, K.-I.3
-
54
-
-
0347479231
-
Oxidative Stress is Responsible for Deficient Survival and Dendritogenesis in Purkinje Neurons from Ataxia-Telangiectasia Mutated Mutant Mice
-
Chen P, Peng C, Luff J, Spring K, Watters D, Bottle S, et al. Oxidative stress is responsible for deficient survival and dendritogenesis in purkinje neurons from ataxia-telangiectasia mutated mutant mice. J Neurosci Off J Soc Neurosci. 2003;23(36):11453-60. (Pubitemid 37549702)
-
(2003)
Journal of Neuroscience
, vol.23
, Issue.36
, pp. 11453-11460
-
-
Chen, P.1
Peng, C.2
Luff, J.3
Spring, K.4
Watters, D.5
Bottle, S.6
Furuya, S.7
Lavin, M.F.8
-
55
-
-
33845378793
-
Reaction of superoxide with nitric oxide to form peroxonitrite in alkaline aqueous solution
-
Blough NV, Zafiriou OC. Reaction of superoxide with nitric oxide to form peroxonitrite in alkaline aqueous solution. Inorg Chem. 1985;24(22):3502-4.
-
(1985)
Inorg Chem
, vol.24
, Issue.22
, pp. 3502-3504
-
-
Blough, N.V.1
Zafiriou, O.C.2
-
56
-
-
0025189864
-
Apparent hydroxyl radical production by peroxynitrite: Implications for endothelial injury from nitric oxide and superoxide
-
Beckman JS, Beckman TW, Chen J, Marshall PA, Freeman BA. Apparent hydroxyl radical production by peroxynitrite: implications for endothelial injury from nitric oxide and superoxide. Proc Natl Acad Sci U S A. 1990;87(4):1620-4.
-
(1990)
Proc Natl Acad Sci U S A
, vol.87
, Issue.4
, pp. 1620-1624
-
-
Beckman, J.S.1
Beckman, T.W.2
Chen, J.3
Marshall, P.A.4
Freeman, B.A.5
-
57
-
-
3442902484
-
Effect of N-acetyl cysteine on oxidative DNA damage and the frequency of DNA deletions in Atm-deficient mice
-
DOI 10.1158/0008-5472.CAN-04-0442
-
Reliene R, Fischer E, Schiestl RH. Effect of N-acetyl cysteine on oxidative DNA damage and the frequency of DNA deletions in atm-deficient mice. Cancer Res. 2004;64(15):5148-53. (Pubitemid 39006532)
-
(2004)
Cancer Research
, vol.64
, Issue.15
, pp. 5148-5153
-
-
Reliene, R.1
Fischer, E.2
Schiestl, R.H.3
-
58
-
-
4444349506
-
Cancer chemoprevention by the antioxidant tempol in Atm-deficient mice
-
DOI 10.1093/hmg/ddh189
-
Schubert R, Erker L, Barlow C, Yakushiji H, Larson D, Russo A, et al. Cancer chemoprevention by the antioxidant tempol in Atm-deficient mice. Hum Mol Genet. 2004;13(16):1793-802. (Pubitemid 39173448)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.16
, pp. 1793-1802
-
-
Schubert, R.1
Erker, L.2
Barlow, C.3
Yakushiji, H.4
Larson, D.5
Russo, A.6
Mitchell, J.B.7
Wynshaw-Boris, A.8
-
59
-
-
33747371969
-
Dramatic extension of tumor latency and correction of neurobehavioral phenotype in Atm-mutant mice with a nitroxide antioxidant
-
DOI 10.1016/j.freeradbiomed.2006.06.018, PII S0891584906004217
-
Gueven N, Luff J, Peng C, Hosokawa K, Bottle SE, Lavin MF. Dramatic extension of tumor latency and correction of neurobehavioral phenotype in Atm-mutant mice with a nitroxide antioxidant. Free Radic Biol Med. 2006;41(6):992-1000. (Pubitemid 44247555)
-
(2006)
Free Radical Biology and Medicine
, vol.41
, Issue.6
, pp. 992-1000
-
-
Gueven, N.1
Luff, J.2
Peng, C.3
Hosokawa, K.4
Bottle, S.E.5
Lavin, M.F.6
-
60
-
-
33745263216
-
Antioxidant N-acetyl cysteine reduces incidence and multiplicity of lymphoma in Atm deficient mice
-
DOI 10.1016/j.dnarep.2006.05.003, PII S1568786406001200
-
Reliene R, Schiestl RH. Antioxidant N-acetyl cysteine reduces incidence and multiplicity of lymphoma in Atm deficient mice. DNA Repair. 2006;5(7):852-9. (Pubitemid 43928890)
-
(2006)
DNA Repair
, vol.5
, Issue.7
, pp. 852-859
-
-
Reliene, R.1
Schiestl, R.H.2
-
61
-
-
33845969499
-
Regulation of reactive oxygen species by Atm is essential for proper response to DNA double-strand breaks in lymphocytes
-
Ito K, Takubo K, Arai F, Satoh H, Matsuoka S, Ohmura M, et al. Regulation of reactive oxygen species by Atm is essential for proper response to DNA double-strand breaks in lymphocytes. J Immunol (Baltim, Md: 1950). 2007;178(1):103-10.
-
(2007)
J Immunol (Baltim, Md: 1950)
, vol.178
, Issue.1
, pp. 103-110
-
-
Ito, K.1
Takubo, K.2
Arai, F.3
Satoh, H.4
Matsuoka, S.5
Ohmura, M.6
-
62
-
-
84861357242
-
Experimental antioxidant therapy in ataxia telangiectasia
-
Reliene R, Schiestl RH. Experimental antioxidant therapy in ataxia telangiectasia. Clin Med Oncol. 2008;2:431-6.
-
(2008)
Clin Med Oncol
, vol.2
, pp. 431-436
-
-
Reliene, R.1
Schiestl, R.H.2
-
63
-
-
39149090719
-
Effects of antioxidants on cancer prevention and neuromotor performance in Atm deficient mice
-
DOI 10.1016/j.fct.2007.08.028, PII S0278691507003183
-
Reliene R, Fleming SM, Chesselet MF, Schiestl RH. Effects of antioxidants on cancer prevention and neuromotor performance in Atm deficient mice. Food Chem Toxicol Int J Published Br Ind Biol Res Assoc. 2008;46(4):1371-7. (Pubitemid 351258197)
-
(2008)
Food and Chemical Toxicology
, vol.46
, Issue.4
, pp. 1371-1377
-
-
Reliene, R.1
Fleming, S.M.2
Chesselet, M.-F.3
Schiestl, R.H.4
-
64
-
-
84856752588
-
The mitochondria-targeted antioxidant MitoQ decreases features of the metabolic syndrome in ATM+/-/ApoE-/- mice
-
Mercer JR, Yu E, Figg N, Cheng KK, Prime TA, Griffin JL, et al. The mitochondria-targeted antioxidant MitoQ decreases features of the metabolic syndrome in ATM+/-/ApoE-/- mice. Free Radic Biol Med. 2012;52(5):841-9.
-
(2012)
Free Radic Biol Med
, vol.52
, Issue.5
, pp. 841-849
-
-
Mercer, J.R.1
Yu, E.2
Figg, N.3
Cheng, K.K.4
Prime, T.A.5
Griffin, J.L.6
-
65
-
-
0027957109
-
Dexamethasone and etoposide induce apoptosis in rat thymocytes from different phases of the cell cycle
-
DOI 10.1016/0006-2952(94)90142-2
-
Fearnhead HO, ChwalinskiM, Snowden RT, Ormerod MG, Cohen GM. Dexamethasone and etoposide induce apoptosis in rat thymocytes from different phases of the cell cycle. Biochem Pharmacol. 1994;48(6):1073-9. (Pubitemid 24298356)
-
(1994)
Biochemical Pharmacology
, vol.48
, Issue.6
, pp. 1073-1079
-
-
Fearnhead, H.O.1
Chwalinski, M.2
Snowden, R.T.3
Ormerod, M.G.4
Cohen, G.M.5
-
66
-
-
0035019463
-
The ataxia-telangiectasia gene product may modulate DNA turnover and control cell fate by regulating cellular redox in lymphocytes
-
Yan M, Qiang W, Liu N, Shen J, Lynn WS, Wong PK. The ataxia- telangiectasia gene product may modulate DNA turnover and control cell fate by regulating cellular redox in lymphocytes. FASEB J Off Publ Fed Am Soc Exp Biol. 2001;15(7):1132-8.
-
(2001)
FASEB J off Publ Fed Am Soc Exp Biol
, vol.15
, Issue.7
, pp. 1132-1138
-
-
Yan, M.1
Qiang, W.2
Liu, N.3
Shen, J.4
Lynn, W.S.5
Wong, P.K.6
-
67
-
-
0037105720
-
Prevention of thymic lymphoma development in Atm-/- mice by dexamethasone
-
Yan M, Kuang X, Qiang W, Shen J, Claypool K, Lynn WS, et al. Prevention of thymic lymphoma development in Atm-/- mice by dexamethasone. Cancer Res. 2002;62(18):5153-7. (Pubitemid 35024585)
-
(2002)
Cancer Research
, vol.62
, Issue.18
, pp. 5153-5157
-
-
Yan, M.1
Kuang, X.2
Qiang, W.3
Shen, J.4
Claypool, K.5
Lynn, W.S.6
Wong, P.K.Y.7
-
68
-
-
12444328663
-
Control of Atm-/- thymic lymphoma cell proliferation in vitro and in vivo by dexamethasone
-
DOI 10.1007/s00280-004-0870-6
-
Kuang X, Yan M, Liu N, Scofield VL, Qiang W, Cahill J, et al. Control of Atm-/- thymic lymphoma cell proliferation in vitro and in vivo by dexamethasone. Cancer Chemother Pharmacol. 2005;55(3):203-12. (Pubitemid 40142884)
-
(2005)
Cancer Chemotherapy and Pharmacology
, vol.55
, Issue.3
, pp. 203-212
-
-
Kuang, X.1
Yan, M.2
Liu, N.3
Scofield, V.L.4
Qiang, W.5
Cahill, J.6
Lynn, W.S.7
Wong, P.K.Y.8
-
69
-
-
33749593471
-
Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia
-
DOI 10.1001/archneur.63.10.1479
-
Buoni S, Zannolli R, Sorrentino L, Fois A. Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia. Arch Neurol. 2006;63(10):1479-82. (Pubitemid 44547562)
-
(2006)
Archives of Neurology
, vol.63
, Issue.10
, pp. 1479-1482
-
-
Buoni, S.1
Zannolli, R.2
Sorrentino, L.3
Fois, A.4
-
70
-
-
39149088014
-
Steroid-induced improvement of neurological signs in ataxia- telangiectasia patients
-
DOI 10.1111/j.1468-1331.2008.02060.x
-
Broccoletti T, Del Giudice E, Amorosi S, Russo I, Di Bonito M, Imperati F, et al. Steroid-induced improvement of neurological signs in ataxia-telangiectasia patients. Eur J Neurol Off J Eur Fed Neurol Soc. 2008;15(3):223-8. (Pubitemid 351257930)
-
(2008)
European Journal of Neurology
, vol.15
, Issue.3
, pp. 223-228
-
-
Broccoletti, T.1
Del, G.E.2
Amorosi, S.3
Russo, I.4
Di, B.M.5
Imperati, F.6
Romano, A.7
Pignata, C.8
-
71
-
-
84866291809
-
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia
-
Zannolli R, Buoni S, Betti G, Salvucci S, Plebani A, Soresina A, et al. A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia. Mov Disord Off J Mov Disord Soc. 2012;27(10):1312-6.
-
(2012)
Mov Disord off J Mov Disord Soc
, vol.27
, Issue.10
, pp. 1312-1316
-
-
Zannolli, R.1
Buoni, S.2
Betti, G.3
Salvucci, S.4
Plebani, A.5
Soresina, A.6
-
72
-
-
65449119169
-
In ataxia-teleangiectasia betamethasone response is inversely correlated to cerebellar atrophy and directly to antioxidative capacity
-
Russo I, Cosentino C, Del Giudice E, Broccoletti T, Amorosi S, Cirillo E, et al. In ataxia-teleangiectasia betamethasone response is inversely correlated to cerebellar atrophy and directly to antioxidative capacity. Eur J Neurol. 2009;16(6):755-9.
-
(2009)
Eur J Neurol
, vol.16
, Issue.6
, pp. 755-759
-
-
Russo, I.1
Cosentino, C.2
Del Giudice, E.3
Broccoletti, T.4
Amorosi, S.5
Cirillo, E.6
-
73
-
-
79952721979
-
Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia
-
Broccoletti T, Del Giudice E, Cirillo E, Vigliano I, Giardino G, Ginocchio VM, et al. Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia. Eur J Neurol Off J Eur Fed Neurol Soc. 2011;18(4):564-70.
-
(2011)
Eur J Neurol off J Eur Fed Neurol Soc
, vol.18
, Issue.4
, pp. 564-570
-
-
Broccoletti, T.1
Del Giudice, E.2
Cirillo, E.3
Vigliano, I.4
Giardino, G.5
Ginocchio, V.M.6
-
74
-
-
0022308737
-
Cerebellar pathology in ataxia-telangiectasia: The significance of basket cells
-
Gatti RA, Vinters HV. Cerebellar pathology in ataxia-telangiectasia: the significance of basket cells. Kroc Found Ser. 1985;19:225-32.
-
(1985)
Kroc Found Ser
, vol.19
, pp. 225-232
-
-
Gatti, R.A.1
Vinters, H.V.2
-
76
-
-
34848915088
-
Anatomical parcellation of the brainstem and cerebellar white matter: A preliminary probabilistic tractography study at 3 T
-
DOI 10.1007/s00234-007-0267-4
-
Habas C, Cabanis EA. Anatomical parcellation of the brainstem and cerebellar white matter: a preliminary probabilistic tractography study at 3 T. Neuroradiology. 2007;49(10):849-63. (Pubitemid 47497772)
-
(2007)
Neuroradiology
, vol.49
, Issue.10
, pp. 849-863
-
-
Habas, C.1
Cabanis, E.A.2
-
77
-
-
33751192690
-
Early pathological changes in the cerebellum of patients with pure cerebellar syndrome demonstrated by diffusion-tensor imaging
-
Yoon B, Kim JS, Lee KS, Kim BS, Chung SR, Kim YI. Early pathological changes in the cerebellum of patients with pure cerebellar syndrome demonstrated by diffusion-tensor imaging. Eur Neurol. 2006;56(3):166-71.
-
(2006)
Eur Neurol
, vol.56
, Issue.3
, pp. 166-171
-
-
Yoon, B.1
Kim, J.S.2
Lee, K.S.3
Kim, B.S.4
Chung, S.R.5
Kim, Y.I.6
-
78
-
-
41149126008
-
Diffusion tensor imaging of the cortico-ponto-cerebellar pathway in patients with adult-onset ataxic neurodegenerative disease
-
Kitamura K, Nakayama K, Kosaka S, Yamada E, Shimada H, Miki T, et al. Diffusion tensor imaging of the cortico-ponto-cerebellar pathway in patients with adult-onset ataxic neurodegenerative disease. Neuroradiology. 2008;50(4):285-92.
-
(2008)
Neuroradiology
, vol.50
, Issue.4
, pp. 285-292
-
-
Kitamura, K.1
Nakayama, K.2
Kosaka, S.3
Yamada, E.4
Shimada, H.5
Miki, T.6
-
79
-
-
73449112357
-
Orthogonal diffusion-weighted MRI measures distinguish region-specific degeneration in cerebellar ataxia subtypes
-
Ying SH, Landman BA, Chowdhury S, Sinofsky AH, Gambini A, Mori S, et al. Orthogonal diffusion-weighted MRI measures distinguish region-specific degeneration in cerebellar ataxia subtypes. J Neurol. 2009;256(11):1939-42.
-
(2009)
J Neurol
, vol.256
, Issue.11
, pp. 1939-1942
-
-
Ying, S.H.1
Landman, B.A.2
Chowdhury, S.3
Sinofsky, A.H.4
Gambini, A.5
Mori, S.6
-
80
-
-
77952719953
-
Assessment of brain white matter fiber bundle atrophy in patients with Friedreich ataxia
-
Pagani E, Ginestroni A, Della Nave R, Agosta F, Salvi F, De Michele G, et al. Assessment of brain white matter fiber bundle atrophy in patients with Friedreich ataxia. Radiology. 2010;255(3):882-9.
-
(2010)
Radiology
, vol.255
, Issue.3
, pp. 882-889
-
-
Pagani, E.1
Ginestroni, A.2
Della Nave, R.3
Agosta, F.4
Salvi, F.5
De Michele, G.6
-
81
-
-
79955024136
-
Brain diffusion-weighted imaging in Friedreich's ataxia
-
Rizzo G, Tonon C, Valentino ML, Manners D, Fortuna F, Gellera C, et al. Brain diffusion-weighted imaging in Friedreich's ataxia. Mov Disord Off J Mov Disord Soc. 2011;26(4):705-12.
-
(2011)
Mov Disord off J Mov Disord Soc
, vol.26
, Issue.4
, pp. 705-712
-
-
Rizzo, G.1
Tonon, C.2
Valentino, M.L.3
Manners, D.4
Fortuna, F.5
Gellera, C.6
-
82
-
-
80051796431
-
Loss of intrinsic organization of cerebellar networks in spinocerebellar ataxia type 1: Correlates with disease severity and duration
-
Solodkin A, Peri E, Chen EE, Ben-Jacob E, Gomez CM. Loss of intrinsic organization of cerebellar networks in spinocerebellar ataxia type 1: correlates with disease severity and duration. Cerebellum. 2011;10(2):218-32.
-
(2011)
Cerebellum
, vol.10
, Issue.2
, pp. 218-232
-
-
Solodkin, A.1
Peri, E.2
Chen, E.E.3
Ben-Jacob, E.4
Gomez, C.M.5
-
83
-
-
84871667484
-
Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series
-
Prodi E, Grisoli M, Panzeri M, Minati L, Fattori F, Erbetta A, et al. Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. Eur J Neurol Off J Eur Fed Neurol Soc. 2013;20(1):138-46.
-
(2013)
Eur J Neurol off J Eur Fed Neurol Soc
, vol.20
, Issue.1
, pp. 138-146
-
-
Prodi, E.1
Grisoli, M.2
Panzeri, M.3
Minati, L.4
Fattori, F.5
Erbetta, A.6
-
84
-
-
84875370751
-
Steroid treatment in ataxia-telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task
-
Quarantelli M, Giardino G, Prinster A, Aloj G, Carotenuto B, Cirillo E, et al. Steroid treatment in ataxia-telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task. EJPN Off J Eur Paediatr Neurol Soc. 2013;17(2):135-40.
-
(2013)
EJPN off J Eur Paediatr Neurol Soc
, vol.17
, Issue.2
, pp. 135-140
-
-
Quarantelli, M.1
Giardino, G.2
Prinster, A.3
Aloj, G.4
Carotenuto, B.5
Cirillo, E.6
-
85
-
-
0019175738
-
Computerized tomographic findings in a case of ataxia-telangiectasia (Louis-Bar syndrome)
-
Scharnetzky M, Kohlschutter A, Krtsch H. Computerized tomographic findings in a case of ataxia-telangiectasia (Louis-Bar syndrome). Neuropediatrics. 1980;11(4):384-7. (Pubitemid 11194485)
-
(1980)
Neuropediatrics
, vol.11
, Issue.4
, pp. 384-387
-
-
Scharnetzky, M.1
Kohlschuetter, A.2
Krtsch, H.3
-
86
-
-
0022548410
-
Ataxia telangiectasia in identical twins: Unusual features
-
Meshram CM, Sawhney IM, Prabhakar S, Chopra JS. Ataxia telangiectasia in identical twins: unusual features. J Neurol. 1986;233(5):304-5. (Pubitemid 16012660)
-
(1986)
Journal of Neurology
, vol.233
, Issue.5
, pp. 304-305
-
-
Meshram, C.M.1
Sawhney, I.M.S.2
Prabhakar, S.3
Chopra, J.S.4
-
87
-
-
0023269465
-
Ataxia telangiectasia in Chinese children. A clinical and electrophysiological study
-
Wong V, Yu YL, Chan-Lui WY, Woo E, Yeung CY. Ataxia telangiectasia in Chinese children. A clinical and electrophysiological study. Clin Neurol Neurosurg. 1987;89(3):137-44. (Pubitemid 17129052)
-
(1987)
Clinical Neurology and Neurosurgery
, vol.89
, Issue.3
, pp. 137-144
-
-
Wong, V.1
Yu, Y.L.2
Chan-Lui, W.Y.3
-
88
-
-
0023794988
-
Ataxia telangiectasia in a brother and sister at older age
-
de Jonge J, Tijssen CC. Ataxia telangiectasia in a brother and sister at older age. Clin Neurol Neurosurg. 1988;90(3):279-81.
-
(1988)
Clin Neurol Neurosurg
, vol.90
, Issue.3
, pp. 279-281
-
-
De Jonge, J.1
Tijssen, C.C.2
-
89
-
-
0022821405
-
Cerebellar atrophy diagnosed by computed tomography and clinical data
-
Kryst T, Kozlowski P, Walecki J, Gajkowski K. Cerebellar atrophy diagnosed by computed tomography and clinical data. Acta Radiol Suppl. 1986;369:396-8.
-
(1986)
Acta Radiol Suppl
, vol.369
, pp. 396-398
-
-
Kryst, T.1
Kozlowski, P.2
Walecki, J.3
Gajkowski, K.4
-
90
-
-
53149104043
-
In vivo molecular imaging of vascular stress
-
Wick MC, Kremser C, Frischauf S, Wick G. In vivo molecular imaging of vascular stress. Cell Stress Chaperones. 2008;13(3):263-73.
-
(2008)
Cell Stress Chaperones
, vol.13
, Issue.3
, pp. 263-273
-
-
Wick, M.C.1
Kremser, C.2
Frischauf, S.3
Wick, G.4
-
91
-
-
0036233679
-
High-resolution isotropic 3D diffusion tensor imaging of the human brain
-
Golay X, Jiang H, van Zijl PC, Mori S. High-resolution isotropic 3D diffusion tensor imaging of the human brain. Magn Reson Med. 2002;47(5):837-43.
-
(2002)
Magn Reson Med
, vol.47
, Issue.5
, pp. 837-843
-
-
Golay, X.1
Jiang, H.2
Van Zijl, P.C.3
Mori, S.4
-
92
-
-
0036295606
-
A continuous tensor field approximation of discrete DT-MRI data for extracting microstructural and architectural features of tissue
-
Pajevic S, Aldroubi A, Basser PJ. A continuous tensor field approximation of discrete DT-MRI data for extracting microstructural and architectural features of tissue. J Magn Reson (San Diego, Calif: 1997). 2002;154(1):85-100.
-
(2002)
J Magn Reson (San Diego, Calif: 1997)
, vol.154
, Issue.1
, pp. 85-100
-
-
Pajevic, S.1
Aldroubi, A.2
Basser, P.J.3
-
93
-
-
0036194973
-
MRI and fluorescence microscopy of the acute vascular response to VEGF165: Vasodilation, hyper-permeability and lymphatic uptake, followed by rapid inactivation of the growth factor
-
DOI 10.1002/nbm.724
-
Dafni H, Landsman L, Schechter B, Kohen F, Neeman M. MRI and fluorescence microscopy of the acute vascular response to VEGF165: vasodilation, hyper-permeability and lymphatic uptake, followed by rapid inactivation of the growth factor. NMR Biomed. 2002;15(2):120-31. (Pubitemid 34213402)
-
(2002)
NMR in Biomedicine
, vol.15
, Issue.2
, pp. 120-131
-
-
Dafni, H.1
Landsman, L.2
Schechter, B.3
Kohen, F.4
Neeman, M.5
-
94
-
-
0026554025
-
Cranial CT and MRI in diseases with DNA repair defects
-
Demaerel P, Kendall BE, Kingsley D. Cranial CT and MRI in diseases with DNA repair defects. Neuroradiology. 1992;34(2):117-21.
-
(1992)
Neuroradiology
, vol.34
, Issue.2
, pp. 117-121
-
-
Demaerel, P.1
Kendall, B.E.2
Kingsley, D.3
-
95
-
-
0028023434
-
Ataxia-telangiectasia: MR and CT findings
-
Farina L, Uggetti C, Ottolini A, Martelli A, Bergamaschi R, Sibilla L, et al. Ataxia-telangiectasia: MR and CT findings. J Comput Assist Tomogr. 1994;18(5):724-7. (Pubitemid 24286362)
-
(1994)
Journal of Computer Assisted Tomography
, vol.18
, Issue.5
, pp. 724-727
-
-
Farina, L.1
Uggetti, C.2
Ottolini, A.3
Martelli, A.4
Bergamaschi, R.5
Sibilla, L.6
Zappoli, F.7
Egitto, M.G.8
Lanzi, G.9
-
96
-
-
0028797278
-
Cranial MRI in ataxia-telangiectasia
-
Sardanelli F, Parodi RC, Ottonello C, Renzetti P, Saitta S, Lignana E, et al. Cranial MRI in ataxia-telangiectasia. Neuroradiology. 1995;37(1):77-82.
-
(1995)
Neuroradiology
, vol.37
, Issue.1
, pp. 77-82
-
-
Sardanelli, F.1
Parodi, R.C.2
Ottonello, C.3
Renzetti, P.4
Saitta, S.5
Lignana, E.6
-
97
-
-
0033832258
-
Abnormal white matter signal in ataxia telangiectasia
-
Ciemins JJ, Horowitz AL. Abnormal white matter signal in ataxia telangiectasia. AJNR. 2000;21(8):1483-5.
-
(2000)
AJNR
, vol.21
, Issue.8
, pp. 1483-1485
-
-
Ciemins, J.J.1
Horowitz, A.L.2
-
98
-
-
1842458735
-
Ataxia telangiectasia with long survival
-
Opeskin K, Waterston J, Nirenberg A, Hare WS. Ataxia telangiectasia with long survival. J Clin Neurosci Off J Neurosurg Soc Australas. 1998;5(4):471-3. (Pubitemid 128646697)
-
(1998)
Journal of Clinical Neuroscience
, vol.5
, Issue.4
, pp. 471-473
-
-
Opeskin, K.1
Waterston, J.2
Nirenberg, A.3
Hare, W.S.C.4
-
99
-
-
0035000131
-
Ataxia telangiectasia with vascular abnormalities in the brain parenchyma: Report of an autopsy case and literature review
-
DOI 10.1046/j.1440-1827.2001.01199.x
-
Kamiya M, Yamanouchi H, Yoshida T, Arai H, Yokoo H, Sasaki A, et al. Ataxia telangiectasia with vascular abnormalities in the brain parenchyma: report of an autopsy case and literature review. Pathol Int. 2001;51(4):271-6. (Pubitemid 32472698)
-
(2001)
Pathology International
, vol.51
, Issue.4
, pp. 271-276
-
-
Kamiya, M.1
Yamanouchi, H.2
Yoshida, T.3
Arai, H.4
Yokoo, H.5
Sasaki, A.6
Hirato, J.7
Nakazato, Y.8
Sakazume, Y.9
Okamoto, K.10
-
100
-
-
0035045452
-
Ataxia telangiectasia: Report of two cases
-
Huang KY, Shyur SD, Wang CY, Shen EY, Liang DC. Ataxia telangiectasia: report of two cases. J Microbiol Immunol Infect Wei Mian Yu Gan Ran Za Zhi. 2001;34(1):71-5.
-
(2001)
J Microbiol Immunol Infect Wei Mian Yu Gan Ran Za Zhi
, vol.34
, Issue.1
, pp. 71-75
-
-
Huang, K.Y.1
Shyur, S.D.2
Wang, C.Y.3
Shen, E.Y.4
Liang, D.C.5
-
101
-
-
0038823656
-
Ataxia-telangiectasia: The pattern of cerebellar atrophy on MRI
-
Tavani F, Zimmerman RA, Berry GT, Sullivan K, Gatti R, Bingham P. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology. 2003;45(5):315-9. (Pubitemid 36656622)
-
(2003)
Neuroradiology
, vol.45
, Issue.5
, pp. 315-319
-
-
Tavani, F.1
Zimmerman, R.A.2
Berry, G.T.3
Sullivan, K.4
Gatti, R.5
Bingham, P.6
-
102
-
-
26944503047
-
Quantitative evaluation of brain involvement in ataxia telangiectasia by diffusion weighted MR imaging
-
DOI 10.1016/j.ejrad.2005.04.009, PII S0720048X05001725
-
Firat AK, Karakas HM, Firat Y, Yakinci C. Quantitative evaluation of brain involvement in ataxia telangiectasia by diffusion weighted MR imaging. Eur J Radiol. 2005;56(2):192-6. (Pubitemid 41483018)
-
(2005)
European Journal of Radiology
, vol.56
, Issue.2
, pp. 192-196
-
-
Firat, A.K.1
Karakas, H.M.2
Firat, Y.3
Yakinci, C.4
-
103
-
-
33846210704
-
Proton MR spectroscopic imaging in ataxia-telangiectasia
-
DOI 10.1055/s-2006-924722
-
Lin DD, Crawford TO, Lederman HM, Barker PB. Proton MR spectroscopic imaging in ataxia-telangiectasia. Neuropediatrics. 2006;37(4):241-6. (Pubitemid 46092372)
-
(2006)
Neuropediatrics
, vol.37
, Issue.4
, pp. 241-246
-
-
Lin, D.D.M.1
Crawford, T.O.2
Lederman, H.M.3
Barker, P.B.4
-
104
-
-
33846447115
-
Proton spectroscopy and imaging at 3T in ataxia-telangiectasia
-
Wallis LI, Griffiths PD, Ritchie SJ, Romanowski CA, Darwent G, Wilkinson ID. Proton spectroscopy and imaging at 3 T in ataxia telangiectasia. AJNR. 2007;28(1):79-83. (Pubitemid 46147539)
-
(2007)
American Journal of Neuroradiology
, vol.28
, Issue.1
, pp. 79-83
-
-
Wallis, L.I.1
Griffiths, P.D.2
Ritchie, S.J.3
Romanowski, C.A.J.4
Darwent, G.5
Wilkinson, I.D.6
-
105
-
-
43449089527
-
Brain MRI abnormalities in ataxia-telangiectasia
-
DOI 10.1097/NRL.0b013e31815fa5a7, PII 0012789320080500000006
-
Habek M, Brinar VV, Rados M, Zadro I, Zarkovic K. Brain MRI abnormalities in ataxia-telangiectasia. Neurologist. 2008;14(3):192-5. (Pubitemid 351671259)
-
(2008)
Neurologist
, vol.14
, Issue.3
, pp. 192-195
-
-
Habek, M.1
Brinar, V.V.2
Rados, M.3
Zadro, I.4
Zarkovic, K.5
-
106
-
-
77955477591
-
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
-
Kieslich M, Hoche F, Reichenbach J, Weidauer S, Porto L, Vlaho S, et al. 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. 2010;9(2):190-7.
-
(2010)
Cerebellum
, vol.9
, Issue.2
, pp. 190-197
-
-
Kieslich, M.1
Hoche, F.2
Reichenbach, J.3
Weidauer, S.4
Porto, L.5
Vlaho, S.6
-
107
-
-
84865631819
-
Diagnostic approach to childhood-onset cerebellar atrophy: A 10-year retrospective study of 300 patients
-
Al-Maawali A, Blaser S, Yoon G. Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients. J Child Neurol. 2012;27(9):1121-32.
-
(2012)
J Child Neurol
, vol.27
, Issue.9
, pp. 1121-1132
-
-
Al-Maawali, A.1
Blaser, S.2
Yoon, G.3
-
108
-
-
0028084560
-
Cerebral white-matter changes suggesting leukodystrophy in ataxia telangiectasia
-
Chung EO, Bodensteiner JB, Noorani PA, Schochet SS. Cerebral white-matter changes suggesting leukodystrophy in ataxia telangiectasia. J Child Neurol. 1994;9(1):31-5. (Pubitemid 24022135)
-
(1994)
Journal of Child Neurology
, vol.9
, Issue.1
, pp. 31-35
-
-
Chung, E.O.1
Bodensteiner, J.B.2
Noorani, P.A.3
Schochet Jr., S.S.4
-
109
-
-
84892738744
-
Cerebral abnormalities in adults with ataxia-telangiectasia
-
Lin DD, Barker PB, Lederman HM, Crawford TO. Cerebral abnormalities in adults with ataxia-telangiectasia. AJNR. 2013;35(1)119-123.
-
(2013)
AJNR
, vol.35
, Issue.1
, pp. 119-123
-
-
Lin, D.D.1
Barker, P.B.2
Lederman, H.M.3
Crawford, T.O.4
-
111
-
-
76549130688
-
Advanced magnetic resonance techniques in neuroimaging: Diffusion, spectroscopy, and perfusion
-
Sood S, Gupta A, Tsiouris AJ. Advanced magnetic resonance techniques in neuroimaging: diffusion, spectroscopy, and perfusion. Semin Roentgenol. 2010;45(2):137-46.
-
(2010)
Semin Roentgenol
, vol.45
, Issue.2
, pp. 137-146
-
-
Sood, S.1
Gupta, A.2
Tsiouris, A.J.3
-
112
-
-
33745713848
-
Probabilistic diffusion tractography: A potential tool to assess the rate of disease progression in amyotrophic lateral sclerosis
-
DOI 10.1093/brain/awl100
-
Ciccarelli O, Behrens TE, Altmann DR, Orrell RW, Howard RS, Johansen-Berg H, et al. Probabilistic diffusion tractography: a potential tool to assess the rate of disease progression in amyotrophic lateral sclerosis. Brain. 2006;129(Pt 7):1859-71. (Pubitemid 43999417)
-
(2006)
Brain
, vol.129
, Issue.7
, pp. 1859-1871
-
-
Ciccarelli, O.1
Behrens, T.E.2
Altmann, D.R.3
Orrell, R.W.4
Howard, R.S.5
Johansen-Berg, H.6
Miller, D.H.7
Matthews, P.M.8
Thompson, A.J.9
-
113
-
-
67651048947
-
Using diffusion imaging to study human connectional anatomy
-
Johansen-Berg H, Rushworth MF. Using diffusion imaging to study human connectional anatomy. Annu Rev Neurosci. 2009;32:75-94.
-
(2009)
Annu Rev Neurosci
, vol.32
, pp. 75-94
-
-
Johansen-Berg, H.1
Rushworth, M.F.2
-
114
-
-
84902384686
-
Cerebello-cerebral connectivity deficits in Friedreich ataxia
-
doi:10.1007/s00429-013-0547-1
-
Zalesky A, Akhlaghi H, Corben LA, Bradshaw JL, Delatycki MB, Storey E, et al. Cerebello-cerebral connectivity deficits in Friedreich ataxia. Brain Struct Funct. 2013. doi:10.1007/s00429-013-0547-1
-
(2013)
Brain Struct Funct
-
-
Zalesky, A.1
Akhlaghi, H.2
Corben, L.A.3
Bradshaw, J.L.4
Delatycki, M.B.5
Storey, E.6
-
115
-
-
84872875498
-
Movement disorder in ataxia-telangiectasia: Treatment with amantadine sulfate
-
Nissenkorn A, Hassin-Baer S, Lerman SF, Levi YB, Tzadok M, Ben-Zeev B. Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate. J Child Neurol. 2013;28(2):155-60.
-
(2013)
J Child Neurol
, vol.28
, Issue.2
, pp. 155-160
-
-
Nissenkorn, A.1
Hassin-Baer, S.2
Lerman, S.F.3
Levi, Y.B.4
Tzadok, M.5
Ben-Zeev, B.6
-
116
-
-
0028172394
-
Amantadine increases the extracellular dopamine levels in the striatum by re-uptake inhibition and by N-methyl-D-aspartate antagonism
-
Mizoguchi K, Yokoo H, Yoshida M, Tanaka T, Tanaka M. Amantadine increases the extracellular dopamine levels in the striatum by re-uptake inhibition and by N-methyl-D-aspartate antagonism. Brain Res. 1994;662(1-2):255-8.
-
(1994)
Brain Res
, vol.662
, Issue.1-2
, pp. 255-258
-
-
Mizoguchi, K.1
Yokoo, H.2
Yoshida, M.3
Tanaka, T.4
Tanaka, M.5
-
117
-
-
16344367248
-
Amantadine inhibits NMDA receptors by accelerating channel closure during channel block
-
DOI 10.1523/JNEUROSCI.4262-04.2005
-
Blanpied TA, Clarke RJ, Johnson JW. Amantadine inhibits NMDA receptors by accelerating channel closure during channel block. J Neurosci Off J Soc Neurosci. 2005;25(13):3312-22. (Pubitemid 40471340)
-
(2005)
Journal of Neuroscience
, vol.25
, Issue.13
, pp. 3312-3322
-
-
Blanpied, T.A.1
Clarke, R.J.2
Johnson, J.W.3
|