The Pathogenesis of Ataxia-Telangiectasia

Activation of the ATM Kinase by Ionizing Radiation and Phosphorylation of p53

Canman, C. E., Lim, D.-S., Cimprich, K. A., Taya, Y., Tamai, K., Sakaguchi, K., Appella, E., Kastan, M. B., & Siliciano, J. D. (1998) · Science · doi:10.1126/science.281.5383.1677 · Cited by 2,042

Enhanced Phosphorylation of p53 by ATM in Response to DNA Damage

Banin, S., Moyal, L., Shieh, S.-Y., Taya, Y., Anderson, C. W., Chessa, L., Smorodinsky, N. I., Prives, C., Reiss, Y., Shiloh, Y., et al. (1998) · Science · doi:10.1126/science.281.5383.1674 · Cited by 1,797

Atm-Deficient Mice: A Paradigm of Ataxia Telangiectasia

Barlow, C., Hirotsune, S., Paylor, R. E., Liyanage, M., Eckhaus, M., Collins, F. S., Shiloh, Y., Crawley, J. N., Ried, T., Tagle, D. A., et al. (1996) · Cell · doi:10.1016/s0092-8674(00)80086-0 · Cited by 1,465

The hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage Response

Carney, J. P., Maser, R. S., Olivares, H., Davis, E. M., Le Beau, M., Yates, J. R., Hays, L., Morgan, W. F., & Petrini, J. H. J. (1998) · Cell · doi:10.1016/s0092-8674(00)81175-7 · Cited by 1,226

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Varon, R., Vissinga, C., Platzer, M., Cerosaletti, K. M., Chrzanowska, K. H., Saar, K., Beckmann, G., Seemanová, E., Cooper, P. R., Nowak, N. J., et al. (1998) · Cell · doi:10.1016/s0092-8674(00)81174-5 · Cited by 1,079

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., Bressan, D. A., Kaplan, M. I., Jaspers, N. G. J., Raams, A., Byrd, P. J., Petrini, J. H. J., & Taylor, A. M. R. (1999) · Cell · doi:10.1016/s0092-8674(00)81547-0 · Cited by 1,060

Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

Taylor, A. M. R., Harnden, D. G., Arlett, C. F., Harcourt, S. A., Lehmann, A. R., Stevens, S., & Bridges, B. A. (1975) · Nature · doi:10.1038/258427a0 · Cited by 991

Incidence of Cancer in 161 Families Affected by Ataxia–Telangiectasia

Swift, M., Morrell, D., Massey, R. B., & Chase, C. L. (1991) · New England Journal of Medicine · doi:10.1056/nejm199112263252602 · Cited by 934

Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma.Preprint

Xu, Y., Ashley, T., Brainerd, E. E., Bronson, R. T., Meyn, M. S., & Baltimore, D. (1996) · Genes & Development · doi:10.1101/gad.10.19.2411 · Cited by 830

Breast and Other Cancers in Families with Ataxia-Telangiectasia

Swift, M., Reitnauer, P. J., Morrell, D., & Chase, C. L. (1987) · New England Journal of Medicine · doi:10.1056/nejm198705213162101 · Cited by 717

Localization of an ataxia-telangiectasia gene to chromosome 11q22–23

Gatti, R. A., Berkel, İ., Boder, E., Braedt, G., Charmley, P., CONCANNON, P. J., Ersoy, F., Foroud, T., Jaspers, N. G. J., Lange, K. L., et al. (1988) · Nature · doi:10.1038/336577a0 · Cited by 684

Leukemia and lymphoma in ataxia telangiectasia

Taylor, A. M. R., Metcalfe, J. W., Thick, J. A., & Mak, Y. F. (1996) · Blood · doi:10.1182/blood.v87.2.423.bloodjournal872423 · Cited by 589

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

Savitsky, K., Sfez, S., Tagle, D. A., Ziv, Y., Sartiel, A., Collins, F. S., Shiloh, Y., & Rotman, G. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.11.2025 · Cited by 535

In situ visualization of DNA double-strand break repair in human fibroblasts

Nelms, B. E., Maser, R. S., MacKay, J. F., Lagally, M. G., & Petrini, J. H. J. (1998) · Science · doi:10.1126/science.280.5363.590 · Cited by 500

Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products

Zhao, S., Weng, Y., Yuan, S. F., Lin, Y.-T., Hsu, H.-C., Lin, S. J., Gerbino, E., Song, M., Zdzienicka, M. Z., Gatti, R. A., et al. (2000) · Nature · doi:10.1038/35013083 · Cited by 491

ATM associates with and phosphorylates p53: mapping the region of interaction

Khanna, K. K., Keating, K. E., Kozlov, S., Scott, S. P., Gatei, M. H., Hobson, K., Taya, Y., Gabrielli, B. G., Chan, D. W., Lees‐Miller, S. P., et al. (1998) · Nature Genetics · doi:10.1038/3882 · Cited by 481

ATM-dependent phosphorylation of nibrin in response to radiation exposure

Gatei, M., Young, D., Cerosaletti, K. M., Desai-Mehta, A., Spring, K., Kozlov, S., Lavin, M. F., Gatti, R. A., Concannon, P., & Khanna, K. (2000) · Nature Genetics · doi:10.1038/75508 · Cited by 468

Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.

Boder, E., & Sedgwick, R. P. (1958) · PubMed · Cited by 432

Requirement for Atm in Ionizing Radiation-Induced Cell Death in the Developing Central Nervous System

Herzog, K., Chong, M. J., Kapsetaki, M., Morgan, J. I., & McKinnon, P. J. (1998) · Science · doi:10.1126/science.280.5366.1089 · Cited by 417

ATM Mutations and Phenotypes in Ataxia-Telangiectasia Families in the British Isles: Expression of Mutant ATM and the Risk of Leukemia, Lymphoma, and Breast Cancer

Stanković, T., Kidd, A., Sutcliffe, A., McGuire, G. M., Robinson, P. N., Weber, P., Bedenham, T., Bradwell, A. R., Easton, D. F., Lennox, G. G., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301706 · Cited by 401

Ataxia-telangiectasia and cellular responses to DNA damage.

Meyn, M. S. (1995) · PubMed · Cited by 374

Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia

Stanković, T., Weber, P., Stewart, G. S., Bedenham, T., Murray, J. A. H., Byrd, P. J., Moss, P. A. H., & Taylor, A. M. R. (1999) · The Lancet · doi:10.1016/s0140-6736(98)10117-4 · Cited by 356

A NEW CHROMOSOMAL INSTABILITY DISORDER: THE NIJMEGEN BREAKAGE SYNDROME

Weemaes, C. M. R., Hustinx, T. W. J., Scheres, J. M. J. C., Munster, P. J. J. V., Bakkeren, J. A. J. M., & Taalman, R. D. F. M. (1981) · Acta Paediatrica · doi:10.1111/j.1651-2227.1981.tb05740.x · Cited by 353

Heterozygous ATM mutations do not contribute to early onset of breast cancer

FitzGerald, M. G., Bean, J. M., Hegde, S. R., Ünsal, H., MacDonald, D. J., Harkin, D. P., Finkelstein, D. M., Isselbacher, K. J., & Haber, D. A. (1997) · Nature Genetics · doi:10.1038/ng0397-307 · Cited by 340

Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer

Athma, P., Rappaport, R. V., & Swift, M. (1996) · Cancer Genetics and Cytogenetics · doi:10.1016/s0165-4608(96)00328-7 · Cited by 331

Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences

Teraoka, S. N., Telatar, M., Becker-Catania, S. G., Liang, T., Önengüt, S., Tolun, A., Chessa, L., Sanal, Ö., Bernatowska, E. A., Gatti, R. A., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302418 · Cited by 317

ATAXIA-TELANGIECTASIA ITS ASSOCIATION WITH A DEFECTIVE THYMUS, IMMUNOLOGICAL-DEFICIENCY DISEASE, AND MALIGNANCY

Peterson, R. D. A., Kelly, W. D., & Good, R. (1964) · The Lancet · doi:10.1016/s0140-6736(64)91209-7 · Cited by 305

Cancer Risks in A-T Heterozygotes

Easton, D. F. (1994) · International Journal of Radiation Biology · doi:10.1080/09553009414552011 · Cited by 288

The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes.Preprint

Keegan, K. S., Holtzman, D. A., Plug, A. W., Christenson, E., Brainerd, E. E., Flaggs, G., Bentley, N. J., Taylor, E. M., Meyn, M. S., Moss, S. B., et al. (1996) · Genes & Development · doi:10.1101/gad.10.19.2423 · Cited by 283

Cancer Risk in ATM Heterozygotes: A Model of Phenotypic and Mechanistic Differences between Missense and Truncating Mutations

Gatti, R. A., Tward, A. D., & CONCANNON, P. J. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1999.2942 · Cited by 281

Nijmegen breakage syndrome

The International Nijmegen Breakage Syndrome Study Group (2000) · Archives of Disease in Childhood · doi:10.1136/adc.82.5.400 · Cited by 277

ATM: A mediator of multiple responses to genotoxic stress

Rotman, G., & Shiloh, Y. (1999) · Oncogene · doi:10.1038/sj.onc.1203124 · Cited by 273

Somatic ATM Mutations Indicate a Pathogenic Role of ATM in B-Cell Chronic Lymphocytic Leukemia

Schaffner, C., Stilgenbauer, S., Rappold, G., Döhner, H., & Lichter, P. (1999) · Blood · doi:10.1182/blood.v94.2.748.414k02_748_753 · Cited by 272

ATM-related genes: What do they tell us about functions of the human gene?

Zakian, V. A. (1995) · Cell · doi:10.1016/0092-8674(95)90463-8 · Cited by 271

Ataxia Telangiectasia

Gotoff, S. P. (1967) · American journal of diseases of children · doi:10.1001/archpedi.1967.02090270073006 · Cited by 267

Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants

Gilad, S., Chessa, L., Khosravi, R., Russell, P. S., Galanty, Y., Piane, M., Gatti, R. A., Jorgensen, T. J., Shiloh, Y., & Bar‐Shira, A. (1998) · The American Journal of Human Genetics · doi:10.1086/301755 · Cited by 253

Loss of the ataxia–telangiectasia gene product causes oxidative damage in target organs

Barlow, C., Dennery, P. A., Shigenaga, M. K., Smith, M. A., Morrow, J. D., Roberts, L. J., Wynshaw-Boris, A. J., & Levine, R. L. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.17.9915 · Cited by 246

ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility

Broeks, A., Urbanus, J. H. M., Floore, A. N., Dahler, E. C., Klijn, J. G. M., Rutgers, E. J. T., Devilee, P., Russell, N. S., van Leeuwen, F. E., & van't Veer, L. J. (2000) · The American Journal of Human Genetics · doi:10.1086/302746 · Cited by 240

Circular chromosome formation in a fission yeast mutant defective in two ATM homologues

Naito, T., Matsuura, A., & Ishikawa, F. (1998) · Nature Genetics · doi:10.1038/2517 · Cited by 237

ATM mutations in B-cell chronic lymphocytic leukemia.

Bullrich, F., Rasio, D., Kitada, S., Starostik, P., Kipps, T. J., Keating, M., Albitar, M. X., Reed, J. C., & Croce, C. M. (1999) · PubMed · Cited by 232

Colon carcinogens: Their metabolism and mode of action

Weisburger, J. H. (1971) · Cancer · doi:10.1002/1097-0142(197107)28:1 · Cited by 227

Characterization of ATM gene mutations in 66 ataxia telangiectasia families

Sandoval, N. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.1.69 · Cited by 226

Genotypic Analysis of Mycobacterium tuberculosis in Two Distinct Populations Using Molecular Beacons: Implications for Rapid Susceptibility Testing

Piatek, A. S., Telenti, A., Murray, M. B., El-Hajj, H. H., Jacobs, W. R., Kramer, F. R., & Alland, D. (2000) · Antimicrobial Agents and Chemotherapy · doi:10.1128/aac.44.1.103-110.2000 · Cited by 218

LEUKqMIA AND LYMPHOCYTES IN ATAXIA-TELANGIECTASIA

Hecht, F. M. (1966) · The Lancet · doi:10.1016/s0140-6736(66)90517-4 · Cited by 204

Mutations associated with variant phenotypes in ataxia-telangiectasia.

McConville, C. M., Stanković, T., Byrd, P. J., McGuire, G. M., Yao, Q. Y., Lennox, G. G., & Taylor, A. M. R. (1996) · PubMed Central · Cited by 196

Molecular basis of HNPCC: Mutations of MMR genes

Papadopoulos, N., & Lindblom, A. (1997) · Human Mutation · doi:10.1002/(sici)1098-1004(1997)10:2 · Cited by 189

Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice

Borghesani, P. R., Alt, F. W., Bottaro, A., Davidson, L., Aksoy, S., Rathbun, G. A., Roberts, T. M., Swat, W., Segal, R. A., & Gu, Y. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.7.3336 · Cited by 183

Ataxia Telangiectasia in the British Isles: The Clinical and Laboratory Features of 70 Affected Individuals

Woods, C., & Taylor, A. J. (1992) · QJM · doi:10.1093/oxfordjournals.qjmed.a068657 · Cited by 178

IgG2 Deficiency in Ataxia-Telangiectasia

Oxelius, V., van Berkel, A. I., & Hanson, L. Å. (1982) · New England Journal of Medicine · doi:10.1056/nejm198203043060905 · Cited by 177

High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia

Aurias, A., Dutrillaux, B., Buriot, D., & LEJEUNE, J. (1980) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/0027-5107(80)90101-3 · Cited by 171

Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations

Telatar, M., Teraoka, S. N., Wang, Z., Chun, H. H., Liang, T., Castellvı́-Bel, S., Udar, N., Børresen‐Dale, A., Chessa, L., Bernatowska, E. A., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301673 · Cited by 170

Hypothesis: Ataxia‐telangiectasia: Is ATM a sensor of oxidative damage and stress?

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Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain.

Pippard, E. C., Hall, A. J., Barker, D. J. P., & Bridges, B. A. (1988) · PubMed · Cited by 152

Immunoglobulin E Deficiency in Ataxia-Telangiectasia

Ammann, A. J., Cain, W. A., Ishizaka, K., Hong, R., & Good, R. A. (1969) · New England Journal of Medicine · doi:10.1056/nejm196908282810904 · Cited by 149

The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation.

Vořechovský, I., Rasio, D., Luo, L., Monaco, C., Hammarström, L. L. G., WEBSTER, A. D. B., Žaloudík, J., Barbanti-Brodani, G., James, M. R., & Russo, G. (1996) · PubMed · Cited by 147

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

Telatar, M., Wang, Z., Udar, N., Liang, T., Bernatowska, E. A., Lavin, M. F., Shiloh, Y., CONCANNON, P. J., Good, R. A., & Gatti, R. A. (1996) · PubMed Central · Cited by 143

Ataxia-telangiectasia: Genetics, neuropathology, and immunology of a degenerative disease of childhood.

Schwartz, S. (1987) · Europe PMC (PubMed Central) · Cited by 142

ATM mutations in cancer families.

Vořechovský, I., Luo, L., Lindblom, A., Negrini, M., WEBSTER, A. D. B., Croce, C. M., & Hammarström, L. L. G. (1996) · PubMed · Cited by 134

Ataxia-Telangiectasia: Phenotype/Genotype Studies of ATM Protein Expression, Mutations, and Radiosensitivity

Becker-Catania, S. G., Chen, G., Hwang, M. J., Wang, Z., Sun, X., Sanal, Ö., Bernatowska, E. A., Chessa, L., Lee, E. Y.-H. P., & Gatti, R. A. (2000) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2000.2998 · Cited by 124

Strategies for Mutational Analysis of the Large Multiexon ATM Gene Using High-Density Oligonucleotide ArraysPreprint

Hacia, J. G., Sun, B. K., Hunt, N. G., Edgemon, K., Mosbrook, D. M., Robbins, C. M., Fodor, S. P. A., Tagle, D. A., & Collins, F. S. (1998) · Genome Research · doi:10.1101/gr.8.12.1245 · Cited by 123

Breast cancer and other cancers in Norwegian families with ataxia‐telangiectasia

Børresen‐Dale, A., Andersen, T. I., Tretli, S., Heiberg, A., & Møller, P. (1990) · Genes Chromosomes and Cancer · doi:10.1002/gcc.2870020412 · Cited by 123

The role of ataxia-telangiectasia heterozygotes in familial breast cancer.

Chen, J., Birkholtz, G. G., Lindblom, P., Rubio‐Terres, C., & Lindblom, A. (1998) · PubMed · Cited by 118

Ataxia-Telangiectasia Locus: Sequence Analysis of 184 kb of Human Genomic DNA Containing the Entire ATM GenePreprint

Platzer, M., Rotman, G., Bauer, D., Uziel, T., Savitsky, K., Bar‐Shira, A., Gilad, S., Shiloh, Y., & Rosenthal, A. (1997) · Genome Research · doi:10.1101/gr.7.6.592 · Cited by 115

Eleven polish patients with microcephaly, immunodeficiency, and chromosomal instability: The Nijmegen breakage syndrome

Chrzańowska, K., Kleijer, W. J., Krajewska‐Walasek, M., Białecka, M., Gutkowska, A., Goryluk‐Kozakiewicz, B., Michałkiewicz, J., Stachowski, J., Gregorek, H., Łysoń-Wojciechowska, G., et al. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320570321 · Cited by 112

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

Saar, K., Chrzańowska, K., Stümm, M., Jung, M., Nürnberg, G., Wienker, T. F., Seemanová, E., Wegner, R. ‐., Reis, A., & Sperling, K. (1997) · Europe PMC (PubMed Central) · Cited by 106

Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during development

Oka, A., & Takashima, S. (1998) · Neuroscience Letters · doi:10.1016/s0304-3940(98)00576-x · Cited by 103

Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay.

Huo, Y. K., Wang, Z., Hong, J., Chessa, L., McBride, W. H., Perlman, S., & Gatti, R. A. (1994) · PubMed · Cited by 100

Degeneration of neurons, synapses, and neuropil and glial activation in a murine Atm knockout model of ataxia–telangiectasia

Kuljiš, R. O., Xu, Y., Aguila, M. C., & Baltimore, D. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.23.12688 · Cited by 100

Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay

Mohandas, T. K., Park, J. P., Spellman, R. A., Filiano, J. J., Mamourian, A. C., Hawk, A. B., Belloni, D. R., Noll, W. W., & Moeschler, J. B. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990212)82:4 · Cited by 98

Bloom’s syndrome protein, BLM, colocalizes with replication protein A in meiotic prophase nuclei of mammalian spermatocytes

Walpita, D., Plug, A. W., Neff, N. F., GERMAN, J. L., & Ashley, T. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.10.5622 · Cited by 97

Molecular analysis of a t(14;14) translocation in leukemic T-cells of an ataxia telangiectasia patient.

Russo, G., Isobe, M., Gatti, R. A., Finan, J. B., Batuman, Ö., Huebner, K., Nowell̀, P. C., & Croce, C. M. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.2.602 · Cited by 96

ATM is usually rearranged in T-cell prolymphocytic leukaemia

Yuille, M., Coignet, L., Abraham, S., Yaqub, F., Luo, L., Matutes, E., Brito-Babapulle, V., Vořechovský, I., Dyer, M. J. S., & Catovsky, D. (1998) · Oncogene · doi:10.1038/sj.onc.1201603 · Cited by 87

Duplication of ATR inhibits MyoD, induces aneuploidy and eliminates radiation-induced G1 arrest

Smith, L. G., Liu, S. J., Goodrich, L., Jacobson, D. A., Degnin, C., Bentley, N., Carr, A. M., Flaggs, G., Keegan, K. S., Hoekstra, M. F., et al. (1998) · Nature Genetics · doi:10.1038/ng0598-39 · Cited by 86

Anti-oxidative capacity in patients with ataxia telangiectasia

Reichenbach, J., Schubert, R., Schwan, C., Müller, K., Böhles, H.-J., & Zielen, S. (1999) · Clinical & Experimental Immunology · doi:10.1046/j.1365-2249.1999.01000.x · Cited by 85

Relationship of the ataxia-telangiectasia protein ATM to phosphoinositide 3-kinase

Lavin, M. F., Khana, K. K., Beamish, H., Spring, K. J., Watters, D. J., & Shiloh, Y. (1995) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(00)89083-0 · Cited by 84

Loss of atm radiosensitizes multiple p53 null tissues.

Westphal, C. H., Hoyes, K. P., Canman, C. E., Huang, X., Kastan, M. B., Hendry, J. H., & Leder, P. (1998) · PubMed · Cited by 81

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

Wright, J. A., Teraoka, S. N., Önengüt, S., Tolun, A., Gatti, R. A., Ochs, H. D., & CONCANNON, P. J. (1996) · PubMed Central · Cited by 81

Cell-Cycle Regulation of Mammalian DNA Double-Strand-Break Repair

Hendrickson, E. A. (1997) · The American Journal of Human Genetics · doi:10.1086/514895 · Cited by 80

Radioresistant DNA synthesis and human genetic disease

Young, B. R., & Painter, R. B. (1989) · Human Genetics · doi:10.1007/bf00284040 · Cited by 78

AT‐related disorder

Wegner, R. ‐., Metzger, M., Hanefeld, F. A., Jaspers, N. G. J., Baan, C. C., Magdorf, K., Kunze, J., & Sperling, K. (1988) · Clinical Genetics · doi:10.1111/j.1399-0004.1988.tb04260.x · Cited by 70

Ataxia-Telangiectasia with A 32 Year Survival

Amromin, G. D., Boder, E., & Teplitz, R. L. (1979) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-197911000-00007 · Cited by 68

A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.

Hernandez, D., McConville, C. M., Stacey, M., Woods, C. G., Brown, M. M., Shutt, P., Rysiecki, G., & Taylor, A. M. R. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.2.135 · Cited by 68

[Ataxiatelangiectasis. (7 personal cases)].

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ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.

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Imparied glutathione biosynthesis in cultured human ataxia-telangiectasia cells.

Meredith, M. J., & Dodson, M. L. (1987) · PubMed · Cited by 60

From the Cover: Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice

Borghesani, P. R. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.050584897 · Cited by 55

Eighth International Workshop on Ataxia-Telangiectasia (ATW8).

Lavin, M. F., CONCANNON, P. J., & Gatti, R. A. (1999) · PubMed · Cited by 53

Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype

Cerosaletti, K. M., Lange, E. M., Stringham, H. M., Weemaes, C. M. R., Smeets, D., Sölder, B., Belohradsky, B. H., Taylor, A. M. R., Karnes, P. S., Elliott, A. M., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301927 · Cited by 53

Selective deficiency of CD4+/CD45RA+ lymphocytes in patients with ataxia-telangiectasia

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A Model for ATM Heterozygote Identification in a Large Population: Four Founder-Effect ATM Mutations Identify Most of Costa Rican Patients with Ataxia Telangiectasia

Telatar, M., Wang, Z., Castellvı́-Bel, S., Tai, L.-Q., Sheikhavandi, S., Regueiro, J. R., Porras, O., & Gatti, R. A. (1998) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1998.2693 · Cited by 50

Atm expression patterns suggest a contribution from the peripheral nervous system to the phenotype of ataxia–telangiectasia

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Radiosensitivity and oxidative signalling in ataxia telangiectasia: an update

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Ataxia-telangiectasia: A multiparameter analysis of eight families

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Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect

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ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population

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Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia

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ATAXIA-TELANGIECTASIA

Regueiro, J. R., Porras, Ó., Lavin, M. F., & Gatti, R. A. (2000) · Immunology and Allergy Clinics of North America · doi:10.1016/s0889-8561(05)70141-7 · Cited by 44

Scanning by DOVAM-S Detects All Unique Sequence Changes in Blinded Analyses: Evidence that the Scanning Conditions Are Generic

Buzin, C. H., Wen, C. Y., Nguyen, V. Q., Nozari, G., Mengos, A. E., Li, X., Chen, J. S., Liu, Q., Gatti, R. A., Fujimura, F. K., et al. (2000) · BioTechniques · doi:10.2144/00284rr04 · Cited by 42

The Molecular Basis and Clinical Management of Ataxia Telangiectasia

Spacey, S. D., Gatti, R. A., & Bebb, G. D. (2000) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s0317167100000822 · Cited by 42

Immunoglobulins in ataxia-telangiectasia: Evidence for IgG4 and IgA2 subclass deficiencies

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Loss of heterozygosity at 11q23.1 and survival in breast cancer: Results of a large European study

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No evidence for constitutional ATM mutation in breast/gastric cancer families.

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Genomic organization of the ATM locus involved in ataxia-telangiectasia.

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The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.

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Isolation and characterization of a novel TP53-inducible gene,TP53TG3

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Upregulation of ATM in sclerosing adenosis of the breast.

Clarke, R. A., Kairouz, R., Watters, D. J., Lavin, M. F., Kearsley, J., & Lee, C. S. (1998) · Molecular Pathology · doi:10.1136/mp.51.4.224 · Cited by 25

A haplotype common to intermediate radiosensitivity variants of ataxia-telangiectasia in the UK

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Membrane and transmembrane signaling in Herpesvirus saimiri-transformed human CD4+ and CD8+ T lymphocytes is ATM-independent.

Rivero-Carmena, M., Porras, O., Pelaez, B., Pacheco-Castro, A., Gatti, R. A., & Regueiro, J. R. (2000) · International Immunology · doi:10.1093/intimm/12.6.927 · Cited by 19

A Study of the Bronchial and Vascular Structures of a Lung

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Untitled work

(1999) · doi:10.1002/(sici)1098-1004(1999)14:2

Untitled work

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Requirement of the MRN complex for ATM activation by DNA damage

Uziel, T., Lerenthal, Y., Moyal, L., Andegeko, Y., Mittelman, L., & Shiloh, Y. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg541 · Cited by 1,075

ATM and ataxia telangiectasia

McKinnon, P. J. (2004) · EMBO Reports · doi:10.1038/sj.embor.7400210 · Cited by 373

Mechanisms and Regulation of Mitotic Recombination in Saccharomyces cerevisiae

Symington, L. S., Rothstein, R. J., & Lisby, M. (2014) · Genetics · doi:10.1534/genetics.114.166140 · Cited by 375

DNA repair deficiency in neurodegeneration

Jeppesen, D. K., Bohr, V. A., & Stevnsner, T. (2011) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2011.04.013 · Cited by 372

DNA repair deficiency and neurological disease

McKinnon, P. J. (2009) · Nature Reviews Neuroscience · doi:10.1038/nrn2559 · Cited by 323

DNA Strand Break Repair and Human Genetic Disease

McKinnon, P. J., & Caldecott, K. W. (2007) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115648 · Cited by 321

ATM and the Molecular Pathogenesis of Ataxia Telangiectasia

McKinnon, P. J. (2011) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathol-011811-132509 · Cited by 244

Ataxia‐telangiectasia: A review of clinical features and molecular pathology

Amirifar, P., Ranjouri, M. R., Yazdani, R., Abolhassani, H., & Aghamohammadi, A. (2019) · Pediatric Allergy and Immunology · doi:10.1111/pai.13020 · Cited by 199

Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths

Eng, L., Coutinho, G., Nahas, S., Yeo, G. W.-M., Tanouye, R., Babaei, M., Dörk, T., Burge, C. B., & Gatti, R. A. (2003) · Human Mutation · doi:10.1002/humu.10295 · Cited by 158

Cytoplasmic ATM in Neurons Modulates Synaptic Function

Li, J., Han, Y. R., Plummer, M. R., & Herrup, K. (2009) · Current Biology · doi:10.1016/j.cub.2009.10.039 · Cited by 130

Study design: Evaluating gene–environment interactions in the etiology of breast cancer – the WECARE study

Bernstein, J. L., Langholz, B. M., Haile, R. W., Bernstein, L., Thomas, D. C., Stovall, M. A., Malone, K. E., Lynch, C. F., Olsen, J. H., Anton‐Culver, H., et al. (2004) · Breast Cancer Research · doi:10.1186/bcr771 · Cited by 128

Ataxia Telangiectasia Mutated-Dependent Apoptosis after Genotoxic Stress in the Developing Nervous System Is Determined by Cellular Differentiation Status

Lee, Y., Chong, M. J., & McKinnon, P. J. (2001) · Journal of Neuroscience · doi:10.1523/jneurosci.21-17-06687.2001 · Cited by 132

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing

Sun, X., Becker-Catania, S. G., Chun, H. H., Hwang, M. J., Huo, Y., Wang, Z., Mitui, M., Sanal, Ö., Chessa, L., Crandall, B. F., et al. (2002) · The Journal of Pediatrics · doi:10.1067/mpd.2002.123879 · Cited by 126

The Intra-S Checkpoint Responses to DNA Damage

Iyer, D., & Rhind, N. (2017) · Genes · doi:10.3390/genes8020074 · Cited by 131

ATM Is Required for Telomere Maintenance and Chromosome Stability during Drosophila Development

Silva, E., Tiong, S. Y. K., Pedersen, M., Homola, E. M., Royou, A., Fasulo, B., Siriaco, G., & Campbell, S. D. (2004) · Current Biology · doi:10.1016/j.cub.2004.06.056 · Cited by 109

Mre11 Assembles Linear DNA Fragments into DNA Damage Signaling Complexes

Costanzo, V., Paull, T., Gottesman, M., & Gautier, J. (2004) · PLoS Biology · doi:10.1371/journal.pbio.0020110 · Cited by 106

Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

van Os, N. J. H., Haaxma, C. A., van der Flier, M., Merkus, P. J. F. M., van Deuren, M., de Groot, I. J. M., Loeffen, J. L. C., van de Warrenburg, B. P. C., Willemsen, M. A. A. P., & The A‐T Study Group (2017) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.13424 · Cited by 103

Genetic predispositions to childhood leukemia

Stieglitz, E., & Loh, M. L. (2013) · Therapeutic Advances in Hematology · doi:10.1177/2040620713498161 · Cited by 111

Ataxia-Telangiectasia in Iran: Clinical and Laboratory Features of 104 Patients

Moin, M., Aghamohammadi, A., Kouhi, A., Tavassoli, S., Rezaei, N., Ghaffari, S.-R., Gharagozlou, M., Movahedi, M., Purpak, Z., Ghazi, B. M., et al. (2007) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2007.03.002 · Cited by 85

Mitochondria at the crossroads of ATM-mediated stress signaling and regulation of reactive oxygen species

Lee, J., & Paull, T. T. (2020) · Redox Biology · doi:10.1016/j.redox.2020.101511 · Cited by 82

Ataxia-Telangiectasia and Related Diseases

Frappart, P., & McKinnon, P. J. (2006) · NeuroMolecular Medicine · doi:10.1385/nmm:8:4:495 · Cited by 81

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk

Mitui, M., Nahas, S., Du, L., Yang, Z., Lai, C. H., Nakamura, K., Arroyo, S., Scott, S. P., Purayidom, A., CONCANNON, P. J., et al. (2008) · Human Mutation · doi:10.1002/humu.20805 · Cited by 76

Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia

Broccoletti, T., Giudice, E. D., Cirillo, E., Vigliano, I., Giardino, G., Ginocchio, V. M., Bruscoli, S., Riccardi, C., & Pignata, C. (2010) · European Journal of Neurology · doi:10.1111/j.1468-1331.2010.03203.x · Cited by 77

Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum

Du, L., Kayalı, R., Bertoni, C., Fike, F. M., Hu, H., Iversen, P. L., & Gatti, R. A. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr217 · Cited by 74

Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate

Mitui, M., Campbell, C., Coutinho, G., Sun, X., Lai, C., Thorstenson, Y. R., Castellvı́-Bel, S., Fernandez, L., Monrós, E., Costa‐Carvalho, B. T., et al. (2003) · Human Mutation · doi:10.1002/humu.10232 · Cited by 64

The DNA double-strand break response in the nervous system

Abner, C. W., & McKinnon, P. J. (2004) · DNA repair · doi:10.1016/j.dnarep.2004.03.009 · Cited by 67

Molecular nature of intrachromosomal deletions and base substitutions induced by environmental mutagens

Nohmi, T., & Masumura, K. (2005) · Environmental and Molecular Mutagenesis · doi:10.1002/em.20110 · Cited by 63

Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia

Duecker, R. P., Baer, P. C., Eickmeier, O., Strecker, M., Kurz, J., Schaible, A., Henrich, D. M., Zielen, S., & Schubert, R. (2017) · Redox Biology · doi:10.1016/j.redox.2017.11.006 · Cited by 59

Comprehensive scanning of theATM gene with DOVAM-S

Buzin, C. H., Gatti, R. A., Nguyen, V. Q., Wen, C. Y., Mitui, M., Sanal, Ö., Chen, J. S., Nozari, G., Mengos, A. E., Li, X., et al. (2003) · Human Mutation · doi:10.1002/humu.10158 · Cited by 54

Early Events in the DNA Damage Response

Ward, I. M., & Chen, J. (2004) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/s0070-2153(04)63001-8 · Cited by 50

DNA Repair Deficiency and Neurodegeneration

Katyal, S., & McKinnon, P. J. (2007) · Cell Cycle · doi:10.4161/cc.6.19.4757 · Cited by 46

Primary Immunodeficiency Diseases Associated with Neurologic Manifestations

Dehkordy, S. F., Aghamohammadi, A., Ochs, H. D., & Rezaei, N. (2011) · Journal of Clinical Immunology · doi:10.1007/s10875-011-9593-8 · Cited by 45

ATM Gene Founder Haplotypes and Associated Mutations in Polish Families with Ataxia‐Telangiectasia

Mitui, M., Bernatowska, E. A., Pietrucha, B. M., Piotrowska-Jastrzębska, J. D., Eng, L., Nahas, S., Teraoka, S. N., Sholty, G. L., Purayidom, A., CONCANNON, P. J., et al. (2005) · Annals of Human Genetics · doi:10.1111/j.1529-8817.2005.00199.x · Cited by 42

Molecular Genetic Risk Screening

Grody, W. W. (2003) · Annual Review of Medicine · doi:10.1146/annurev.med.54.101601.152127 · Cited by 40

ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions

Cavalieri, S., Funaro, A., Porcedda, P., Turinetto, V., Migone, N., Gatti, R. A., & Brusco, A. (2006) · Human Mutation · doi:10.1002/humu.9454 · Cited by 39

Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia

Felix, E., Gimenes, A. C., & Costa‐Carvalho, B. T. (2013) · Pediatric Pulmonology · doi:10.1002/ppul.22828 · Cited by 38

The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment

Chen, J., Chen, Y., Vail, G., Chow, H., Zhang, Y., Louie, L., Li, J., Hart, R. P., Plummer, M. R., & Herrup, K. (2016) · Molecular Neurodegeneration · doi:10.1186/s13024-016-0127-y · Cited by 37

Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan

Morio, T., Takahashi, N., Watanabe, F., Honda, F., Sato, M., Takagi, M., Imadome, K., Miyawaki, T., Delia, D., Nakamura, K., et al. (2009) · International Journal of Hematology · doi:10.1007/s12185-009-0408-0 · Cited by 36

ATM Protein Kinase: Old and New Implications in Neuronal Pathways and Brain Circuitry

Pizzamiglio, L., Focchi, E., & Antonucci, F. (2020) · Cells · doi:10.3390/cells9091969 · Cited by 36

Ataxia Telangiectasia Mutated Kinase Mediates NF-κB Serine 276 Phosphorylation and Interferon Expression via the IRF7-RIG-I Amplification Loop in Paramyxovirus Infection

Fang, L., Choudhary, S., Tian, B., Boldogh, I. R., Yang, C., Ivanciuc, T., Ma, Y., Garofalo, R., & Brasier, A. R. (2014) · Journal of Virology · doi:10.1128/jvi.02458-14 · Cited by 35

Bone marrow transplantation improves the outcome of Atm-deficient mice through the migration of ATM-competent cells

Pietzner, J., Baer, P. C., Duecker, R. P., Merscher, M. B., Prodinger, C., Bechmann, I., Wietelmann, A., Turco, D. D., Doering, C., Kuçi, S., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds448 · Cited by 34

Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome.

Aghamohammadi, A., Imai, K., Moazzami, K., Abolhassani, H., Tabatabaeiyan, M., Parvaneh, N., Kalmarzi, R. N., Nakagawa, N., Oshima, K., Ohara, O., et al. (2010) · PubMed · Cited by 32

Class Switch Recombination Process in Ataxia Telangiectasia Patients with Elevated Serum Levels of IgM

Mohammadinejad, P., Abolhassani, H., Aghamohammadi, A., Pourhamdi, S., Ghosh, S., Sadeghi, B., Kalmarzi, R. N., Durandy, A., & Borkhardt, A. (2014) · Journal of Immunoassay and Immunochemistry · doi:10.1080/15321819.2014.891525 · Cited by 30

Gpt delta transgenic mouse: A novel approach for molecular dissection of deletion mutations in vivo.

Nohmi, T., & Masumura, K. (2004) · PubMed · Cited by 30

The relationship between nutritional status, vitamin A and zinc levels and oxidative stress in patients with ataxia-telangiectasia

da Silva, R. M., Santos-Valente, E., Scomparini, F. B., Sarni, R. O. S., & Costa-Carvalho, B. T. (2013) · Allergologia et Immunopathologia · doi:10.1016/j.aller.2013.02.013 · Cited by 29

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., Marsili, A., Salvatore, E., Giudice, E. D., & Pignata, C. (2012) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2012.06.002 · Cited by 27

Individual Cytokines Modulate the Neurological Symptoms ofATMDeficiency in a Region Specific Manner

Hui, C. W., & Herrup, K. (2015) · eNeuro · doi:10.1523/eneuro.0032-15.2015 · Cited by 24

Risk of Atherosclerosis in Patients with Ataxia Telangiectasia

Andrade, I. G. A., Costa‐Carvalho, B. T., da Silva, R., Hix, S., Kochi, C., Suano-Souza, F. I., & Sarni, R. O. S. (2015) · Annals of Nutrition and Metabolism · doi:10.1159/000430790 · Cited by 24

Betamethasone therapy in a taxia t elangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis

Giardino, G., Fusco, A., Romano, R., Gallo, V., Maio, F. D., Esposito, T., Palamaro, L., Parenti, G., Salerno, M., Vajro, P., et al. (2012) · European Journal of Neurology · doi:10.1111/ene.12024 · Cited by 23

ATM-dependent phosphorylation of SNEVhPrp19/hPso4 is involved in extending cellular life span and suppression of apoptosis

Dellago, H., Khan, A., Nussbacher, M., Gstraunthaler, A., Lämmermann, I., Schosserer, M., Mück, C., Anrather, D., Scheffold, A., Ammerer, G., et al. (2012) · Aging · doi:10.18632/aging.100452 · Cited by 23

Research on Plants for the Understanding of Diseases of Nuclear and Mitochondrial Origin

Spampinato, C. P., & Gomez‐Casati, D. F. (2012) · BioMed Research International · doi:10.1155/2012/836196 · Cited by 22

Ibuprofen prevents progression of ataxia telangiectasia symptoms in ATM-deficient mice

Hui, C. W., Song, X., Ma, F., Shen, X., & Herrup, K. (2018) · Journal of Neuroinflammation · doi:10.1186/s12974-018-1338-7 · Cited by 22

ATM haplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype

Babaei, M., Mitui, M., Olson, E. R., & Gatti, R. A. (2005) · Human Genetics · doi:10.1007/s00439-005-1254-7 · Cited by 22

DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia‐Telangiectasia: Fourteen Novel ATM Mutations

Magliozzi, M., Piane, M., Torrente, I., Sinibaldi, L., Rizzo, G., Savio, C., Lulli, P., Luca, A. D., Dallapiccola, B., & Chessa, L. (2006) · Disease Markers · doi:10.1155/2006/740493 · Cited by 21

Chemopreventive Metabolites Are Correlated with a Change in Intestinal Microbiota Measured in A-T Mice and Decreased Carcinogenesis

Cheema, A. K., Maier, I., Dowdy, T., Wang, Y., Singh, R., Ruegger, P. M., Borneman, J., Fornace, A. J., & Schiestl, R. H. (2016) · PLoS ONE · doi:10.1371/journal.pone.0151190 · Cited by 22

Effects of Acetyl-DL-Leucine on Ataxia and Downbeat-Nystagmus in Six Patients With Ataxia Telangiectasia

Brueggemann, A., Bicvic, A., Goeldlin, M. B., Kalla, R., Kerkeni, H., Mantokoudis, G., Abegg, M. H., Kolníková, M., Mohaupt, M. G., & Brémovà-Ertl, T. (2021) · Journal of Child Neurology · doi:10.1177/08830738211028394 · Cited by 21

Abnormal cell-clearance and accumulation of autophagic vesicles in lymphocytes from patients affected with Ataxia-Teleangiectasia

D’Assante, R., Fusco, A., Palamaro, L., Polishchuk, E., Polishchuk, R., Bianchino, G., Grieco, V., Prencipe, M. R., Ballabio, A., & Pignata, C. (2016) · Clinical Immunology · doi:10.1016/j.clim.2016.11.015 · Cited by 20

TCL‐1, MTCP‐1 and TML‐1 gene expression profile in non‐leukemic clonal proliferations associated with ataxia‐telangiectasia

Chun, H. H., Castellvı́-Bel, S., Wang, Z., Nagourney, R. A., Plaeger, S. F., Becker-Catania, S. G., Naeim, F., Sparkes, R. S., & Gatti, R. A. (2002) · International Journal of Cancer · doi:10.1002/ijc.10102 · Cited by 20

Altered mucosal immune response after acute lung injury in a murine model of Ataxia Telangiectasia

Eickmeier, O., Kim, S. Y., Herrmann, E. M., Döring, C., Duecker, R. P., Voss, S., Wehner, S., Hölscher, C., Pietzner, J., Zielen, S., et al. (2014) · BMC Pulmonary Medicine · doi:10.1186/1471-2466-14-93 · Cited by 20

Dysfunction of cerebellar microglia in Ataxia‐telangiectasia

Levi, H., Bar, E., Cohen‐Adiv, S., Sweitat, S., Kanner, S., Galron, R., Mitiagin, Y., & Barzilai, A. (2021) · Glia · doi:10.1002/glia.24122 · Cited by 19

In search of drug treatment for genetic defects in the DNA damage response: the example of ataxia-telangiectasia

Shiloh, Y., Andegeko, Y., & Tsarfaty, I. (2004) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2004.04.009 · Cited by 17

Do Elevated Serum IgM Levels Have to Be Included in Probable Diagnosis Criteria of Patients with Ataxia-Telangiectasia?

Azarsız, E., Karaca, N. E., Günaydın, N. C., Gülez, N., Öztürk, C., Aksu, G., Genel, F., & Kütükçüler, N. (2014) · International Journal of Immunopathology and Pharmacology · doi:10.1177/039463201402700312 · Cited by 15

Ataxia Telangiectasia Mutated Protein Kinase: A Potential Master Puppeteer of Oxidative Stress‐Induced Metabolic Recycling

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Chromosome Instability and Oxidative Stress Markers in Patients with Ataxia Telangiectasia and Their Parents

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Pietzner, J., Merscher, B. M., Baer, P. C., Duecker, R. P., Eickmeier, O., Fußbroich, D., Bader, P., Turco, D. D., Henschler, R., Zielen, S., et al. (2016) · Bone Marrow Transplantation · doi:10.1038/bmt.2015.334 · Cited by 8

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BDNF and Cerebellar Ataxia

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Second in Molecular Medicine Review Series

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Predisposing Genetic Variants and Potent Genetic Mutations in Cancer

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Role of Histone Metabolism and Chromatin Structure in DNA Repair

Kari, V. (2014) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-4552

MicroRNA, DNA Repair, and Cancer

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Kowalski, N. (2021) · doi:10.21248/gups.65183

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Ambrose, M., & Gatti, R. A. (2016)

Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions

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