-
1
-
-
34547637645
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
34
-
-
84903629564
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
69
-
-
0002535394
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|