Research & Literature

Mechanisms of ATM Activation.

Paull TT

Annual review of biochemistry 2015; (84()):711-38 doi:10.1146/annurev-biochem-060614-034335.

FVC deterioration, airway obstruction determination, and life span in Ataxia telangiectasia.

Vilozni D, Lavie M, Sarouk I, et al.

Respiratory medicine 2015; (109(7)):890-6.

Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report.

Navratil M, Đuranović V, Nogalo B, et al.

The American journal of case reports 2015; (16()):631-6 doi:10.12659/AJCR.893995.

Ataxia telangiectasia.

Nissenkorn A, Ben-Zeev B

Handbook of clinical neurology 2015; (132()):199-214.

Recessive mutations in the cancer gene Ataxia Telangiectasia Mutated (ATM), at a locus previously associated with metformin response, cause dysglycaemia and insulin resistance.

Connelly PJ, Smith N, Chadwick R, et al.

Diabetic medicine : a journal of the British Diabetic Association 2016; (33(3)):371-5 doi:10.1111/dme.13037.

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.

Bhatt JM, Bush A, van Gerven M, et al.

European respiratory review : an official journal of the European Respiratory Society 2015; (24(138)):565-81 doi:10.1183/16000617.0066-2015.

Novel ATM mutations with ataxia-telangiectasia.

Liu XL, Wang T, Huang XJ, et al.

Neuroscience letters 2016; (611()):112-5.

Childhood colon cancer in a patient with ataxia telangiectasia.

Jo KM, Yang SY, Park JH, et al.

Annals of translational medicine 2016; (4(1)):11 doi:10.3978/j.issn.2305-5839.2015.12.59.

Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort.

Nissenkorn A, Levy-Shraga Y, Banet-Levi Y, et al.

Pediatric research 2016; (79(6)):889-94 doi:10.1038/pr.2016.19.

Longitudinal analysis of the neurological features of ataxia-telangiectasia.

Jackson TJ, Chow G, Suri M, et al.

Developmental medicine and child neurology 2016; (58(7)):690-7 doi:10.1111/dmcn.13052.

Structure of the human dimeric ATM kinase.

Lau WC, Li Y, Liu Z, et al.

Cell cycle (Georgetown, Tex.) 2016; (15(8)):1117-24 doi:10.1080/15384101.2016.1158362.

Ataxia-telangiectasia (A-T): An emerging dimension of premature ageing.

Shiloh Y, Lederman HM

Ageing research reviews 2017; (33()):76-88 doi:10.1016/j.arr.2016.05.002.

Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia.

Lefton-Greif MA, Perlman AL, He X, et al.

Developmental medicine and child neurology 2016; (58(10)):1069-75 doi:10.1111/dmcn.13156.

ATM Mutations in Cancer: Therapeutic Implications.

Choi M, Kipps T, Kurzrock R

Molecular cancer therapeutics 2016; (15(8)):1781-91 doi:10.1158/1535-7163.MCT-15-0945.

Loss of the DNA Damage Repair Kinase ATM Impairs Inflammasome-Dependent Anti-Bacterial Innate Immunity.

Erttmann SF, Härtlova A, Sloniecka M, et al.

Immunity 2016; (45(1)):106-18.

Growth and nutrition in children with ataxia telangiectasia.

Stewart E, Prayle AP, Tooke A, et al.

Archives of disease in childhood 2016; (101(12)):1137-1141 doi:10.1136/archdischild-2015-310373.

Ataxia telangiectasia: a review.

Rothblum-Oviatt C, Wright J, Lefton-Greif MA, et al.

Orphanet journal of rare diseases 2016; (11(1)):159 doi:10.1186/s13023-016-0543-7.

New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.

Roohi J, Crowe J, Loredan D, et al.

Journal of human genetics 2017; (62(5)):581-584 doi:10.1038/jhg.2017.6.

The clinical significance of complete class switching defect in Ataxia telangiectasia patients.

Ghiasy S, Parvaneh L, Azizi G, et al.

Expert review of clinical immunology 2017; (13(5)):499-505 doi:10.1080/1744666X.2017.1292131.

Ataxia-telangiectasia: recommendations for multidisciplinary treatment.

van Os NJH, Haaxma CA, van der Flier M, et al.

Developmental medicine and child neurology 2017; (59(7)):680-689 doi:10.1111/dmcn.13424.

Assaying Radiosensitivity of Ataxia-Telangiectasia.

Hu H, Nahas S, Gatti RA

Methods in molecular biology (Clifton, N.J.) 2017; (1599()):1-11 doi:10.1007/978-1-4939-6955-5_1.

ATM Gene Mutation Detection Techniques and Functional Analysis.

Rieunier G, D'Enghien CD, Fievet A, et al.

Methods in molecular biology (Clifton, N.J.) 2017; (1599()):25-42 doi:10.1007/978-1-4939-6955-5_3.

Phenotypic Analysis of ATM Protein Kinase in DNA Double-Strand Break Formation and Repair.

Mian E, Wiesmüller L

Methods in molecular biology (Clifton, N.J.) 2017; (1599()):317-334 doi:10.1007/978-1-4939-6955-5_23.

Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization.

Rondon-Melo S, de Almeida IJ, Andrade CRF, et al.

The American journal of case reports 2017; (18()):783-789 doi:10.12659/ajcr.903592.

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Mariani LL, Rivaud-Péchoux S, Charles P, et al.

Scientific reports 2017; (7(1)):15284 doi:10.1038/s41598-017-15127-9.

More than ataxia - Movement disorders in ataxia-telangiectasia.

Teive HAG, Camargo CHF, Munhoz RP

Parkinsonism & related disorders 2018; (46()):3-8 doi:10.1016/j.parkreldis.2017.12.009.

Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia.

Krauthammer A, Lahad A, Sarouk Y, et al.

Nutrition (Burbank, Los Angeles County, Calif.) 2018; (46()):48-52 doi:10.1016/j.nut.2017.08.008.

Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.

Levy A, Lang AE

Movement disorders : official journal of the Movement Disorder Society 2018; (33(8)):1238-1247 doi:10.1002/mds.27319.

Mitochondrial redox sensing by the kinase ATM maintains cellular antioxidant capacity.

Zhang Y, Lee JH, Paull TT, et al.

Science signaling 2018; (11(538)) doi:10.1126/scisignal.aaq0702.

A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.

Tariq H, Imran R, Naz S

Journal of clinical neurology (Seoul, Korea) 2018; (14(4)):498-504 doi:10.3988/jcn.2018.14.4.498.

A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.

Saeidi K, Saleh Gohari N, Mansouri Nejad SE

Iranian journal of child neurology 2018; (12(4)):111-119.

Modulation of chromatin conformation by the histone deacetylase inhibitor trichostatin A promotes the removal of radiation-induced lesions in ataxia telangiectasia cell lines.

Egidi A, Filippi S, Manganello F, et al.

Mutation research. Genetic toxicology and environmental mutagenesis 2018; (836(Pt A)):109-116 doi:10.1016/j.mrgentox.2018.06.016.

Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report.

Ye F, Chai W, Yang M, et al.

Molecular and clinical oncology 2018; (9(5)):493-498 doi:10.3892/mco.2018.1721.

[Ataxia telangiectasia. A prototype of neurological involvement in primary immune deficiencies].

Liptai Z

Orvosi hetilap 2018; (159(49)):2057-2064 doi:10.1556/650.2018.31271.

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Schon K, van Os NJH, Oscroft N, et al.

Annals of neurology 2019; (85(2)):170-180 doi:10.1002/ana.25394.

ATM mutation spectrum in Russian children with ataxia-telangiectasia.

Suspitsin E, Sokolenko A, Bizin I, et al.

European journal of medical genetics 2020; (63(1)):103630 doi:10.1016/j.ejmg.2019.02.003.

Phasor histone FLIM-FRET microscopy quantifies spatiotemporal rearrangement of chromatin architecture during the DNA damage response.

Lou J, Scipioni L, Wright BK, et al.

Proceedings of the National Academy of Sciences of the United States of America 2019; (116(15)):7323-7332 doi:10.1073/pnas.1814965116.

[Ataxia Telangiectasia].

Kumada S

Brain and nerve = Shinkei kenkyu no shinpo 2019; (71(4)):380-382 doi:10.11477/mf.1416201280.

Functional classification of ATM variants in ataxia-telangiectasia patients.

Fiévet A, Bellanger D, Rieunier G, et al.

Human mutation 2019; (40(10)):1713-1730 doi:10.1002/humu.23778.

Functional parameter measurements in children with ataxia telangiectasia.

Shenhod E, Benzeev B, Sarouk I, et al.

Developmental medicine and child neurology 2020; (62(2)):207-213 doi:10.1111/dmcn.14334.

Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.

Paucar M, Taylor AMR, Hadjivassiliou M, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2019; (9()) doi:10.7916/tohm.v0.708.

Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.

Schoenaker MHD, Blom M, de Vries MC, et al.

European journal of pediatrics 2020; (179(2)):251-256 doi:10.1007/s00431-019-03479-5.

Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.

Mandola AB, Reid B, Sirror R, et al.

Frontiers in immunology 2019; (10()):2940 doi:10.3389/fimmu.2019.02940.

A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia.

Algahtani H, Shirah B, Algahtani R, et al.

The International journal of neuroscience 2021; (131(2)):206-211 doi:10.1080/00207454.2020.1736582.

Immune competence and respiratory symptoms in patients with ataxia telangiectasia: A prospective follow-up study.

Wölke S, Donath H, Bakhtiar S, et al.

Clinical immunology (Orlando, Fla.) 2020; (217()):108491 doi:10.1016/j.clim.2020.108491.

Ataxia-telangiectasia complicated with Hodgkin's lymphoma: A case report.

Li XL, Wang YL

World journal of clinical cases 2020; (8(11)):2387-2391 doi:10.12998/wjcc.v8.i11.2387.

Diabetes in Patients With Ataxia Telangiectasia: A National Cohort Study.

Donath H, Hess U, Kieslich M, et al.

Frontiers in pediatrics 2020; (8()):317 doi:10.3389/fped.2020.00317.

Ataxia telangiectasia: what the neurologist needs to know.

Tiet MY, Horvath R, Hensiek AE

Practical neurology 2020; (20(5)):404-414 doi:10.1136/practneurol-2019-002253.

Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.

Kim M, Kim AR, Park J, et al.

Clinical neurology and neurosurgery 2020; (199()):106267 doi:10.1016/j.clineuro.2020.106267.

Bone Marrow Transplantation as Therapy for Ataxia-Telangiectasia: A Systematic Review.

Sabino Pinho de Oliveira B, Putti S, Naro F, Pellegrini M

Cancers 2020; (12(11)) doi:10.3390/cancers12113207.

Dysarthria in children and adults with ataxia telangiectasia.

Veenhuis SJG, van Os NJH, van Gerven MHJC, et al.

Developmental medicine and child neurology 2021; (63(4)):450-456 doi:10.1111/dmcn.14811.

The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.

Amirifar P, Ranjouri MR, Pashangzadeh S, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021; (32(6)):1316-1326 doi:10.1111/pai.13461.

Growth in ataxia telangiectasia.

Natale VAI, Cole TJ, Rothblum-Oviatt C, et al.

Orphanet journal of rare diseases 2021; (16(1)):123 doi:10.1186/s13023-021-01716-5.

Effectiveness of Physical Therapy on Ataxia-Telangiectasia: A Case Report.

Unes S, Tuncdemir M, Eroglu-Ertugrul NG, Kerem Gunel M

Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association 2021; (33(3)):E103-E107 doi:10.1097/PEP.0000000000000813.

Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives.

McGrath-Morrow SA, Rothblum-Oviatt CC, Wright J, et al.

Journal of multidisciplinary healthcare 2021; (14()):1637-1644 doi:10.2147/JMDH.S295486.

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.

Zielen S, Duecker RP, Woelke S, et al.

Journal of clinical immunology 2021; (41(8)):1878-1892 doi:10.1007/s10875-021-01090-8.

Cancer in Children With Fanconi Anemia and Ataxia-Telangiectasia-A Nationwide Register-Based Cohort Study in Germany.

Dutzmann CM, Spix C, Popp I, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022; (40(1)):32-39 doi:10.1200/JCO.21.01495.

Myoclonus-Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite.

Ganguly J, Bernaola MT, Goobie S, et al.

Movement disorders clinical practice 2022; (9(2)):264-267 doi:10.1002/mdc3.13369.

Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.

Blanchard-Rohner G, Peirolo A, Coulon L, et al.

Frontiers in immunology 2022; (13()):791522 doi:10.3389/fimmu.2022.791522.

Severe Acute Respiratory Distress Syndrome (ARDS) or Severely Increased Chest Wall Elastance?

Lindner S, Dürschmied D, Akin I, Britsch S

Cureus 2022; (14(2)):e22541 doi:10.7759/cureus.22541.

Effectiveness of Person-Environment-Occupation Model on a Pediatric Neurodegenerative Disease: A Case Report of a Child with Ataxia-Telangiectasia.

Joveini G, Malja M, Hejazi-Shirmard M

Occupational therapy in health care 2023; (37(4)):513-524 doi:10.1080/07380577.2022.2059824.

ATM Modulates Nuclear Mechanics by Regulating Lamin A Levels.

Shah P, McGuigan CW, Cheng S, et al.

Frontiers in cell and developmental biology 2022; (10()):875132 doi:10.3389/fcell.2022.875132.

Imaging in children with ataxia-telangiectasia-The radiologist's approach.

Jończyk-Potoczna K, Potoczny J, Szczawińska-Popłonyk A

Frontiers in pediatrics 2022; (10()):988645 doi:10.3389/fped.2022.988645.

ATM phosphorylates the FATC domain of DNA-PK cs at threonine 4102 to promote non-homologous end joining.

Lu H, Zhang Q, Laverty DJ, et al.

bioRxiv : the preprint server for biology 2023; doi:10.1101/2023.02.02.526879.

Whole-body MRI for cancer surveillance in ataxia-telangiectasia: A qualitative study of the perspectives of people affected by A-T and their families.

Neves R, Perez BD, Tindall T, et al.

Health expectations : an international journal of public participation in health care and health policy 2023; (26(3)):1358-1367 doi:10.1111/hex.13756.

The Care and Management of Children and Young People with Ataxia Telangiectasia Provided by Nurses and Allied Health Professionals: a Scoping Review.

Khan M, Cassidy E, Parkin T, et al.

Cerebellum (London, England) 2024; (23(2)):722-756 doi:10.1007/s12311-023-01555-z.

How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty.

Schiller J, Towne MC, Epstein R, et al.

Journal of genetic counseling 2024; (33(2)):301-313 doi:10.1002/jgc4.1727.

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.

Neves R, De Dios Perez B, Panek R, et al.

Cancer medicine 2023; (12(13)):14663-14673 doi:10.1002/cam4.6075.

Ataxia-telangiectasia in China: a case report of a novel ATM variant and literature review.

Shao L, Wang H, Xu J, et al.

Frontiers in neurology 2023; (14()):1228810 doi:10.3389/fneur.2023.1228810.

A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia.

De Nardi L, Natale MF, Messia V, et al.

Italian journal of pediatrics 2023; (49(1)):111 doi:10.1186/s13052-023-01509-5.

Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis.

Cavone F, Cappelli S, Bonuccelli A, et al.

Journal of clinical medicine 2023; (12(18)) doi:10.3390/jcm12186041.

Videoocular assessment of eye movement activity in an ataxia-telangiectasia: a case study.

Mironets SA, Shurupova MA, Karelin AF

Documenta ophthalmologica. Advances in ophthalmology 2024; (148(2)):107-114 doi:10.1007/s10633-024-09964-z.

Variant ataxia telangiectasia identified during evaluation for short stature.

Sokay A, Leahy TR, O'Regan M, O' Grady M

BMJ case reports 2024; (17(3)) doi:10.1136/bcr-2023-257736.

ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies.

Elitzur S, Shiloh R, Loeffen JLC, et al.

Blood 2024; (144(11)):1193-1205 doi:10.1182/blood.2024024283.

Feasibility of whole-body MRI for cancer screening in children and young people with ataxia telangiectasia: A mixed methods cross-sectional study.

Neves R, Panek R, Clarkson K, et al.

Cancer medicine 2024; (13(14)):e70049 doi:10.1002/cam4.70049.

Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.

Nakano Y, Kuiper RP, Nichols KE, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2024; (30(22)):5009-5020 doi:10.1158/1078-0432.CCR-24-1098.

Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia.

Magnarelli A, Liu Q, Wang F, et al.

The Journal of allergy and clinical immunology 2025; (155(2)):640-649 doi:10.1016/j.jaci.2024.10.023.

An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic.

Bhatt JM, Bush A

Frontiers in pediatrics 2024; (12()):1479620 doi:10.3389/fped.2024.1479620.

Ataxia Telangiectasia with Giant Suprasellar Arachnoid Cyst - A Case Report and a Brief Review.

Ashrafi MR, Nikkhah A, Heidari M, et al.

Iranian journal of child neurology 2025; (19(2)):143-147 doi:10.22037/ijcn.v19i2.45580.

Macrophage Activation Syndrome Revealing Hodgkin Lymphoma: A Pediatric Case Report.

Hared Bouh A, Moussa Sougueh O, Miqdadi A, et al.

Cureus 2025; (17(4)):e82962 doi:10.7759/cureus.82962.

Approach to Oculomotor Apraxia: A Syndromic Approach to Genetic Causes.

Salari M, Rezaei K, Haghighatzadeh M, et al.

Cerebellum (London, England) 2025; (24(4)):116 doi:10.1007/s12311-025-01869-0.

Sarcoidosis-like Skin Lesions as the First Manifestation of Ataxia-Telangiectasia.

Milanovic B, Vijatov-Djuric G, Djuretic A, et al.

Children (Basel, Switzerland) 2025; (12(6)) doi:10.3390/children12060672.

MRI and Biomarkers in Early Detection of Pulmonary Changes in Ataxia-Telangiectasia.

Grzywa-Czuba R, Dmeńska H, Jurkiewicz E, et al.

Medical science monitor : international medical journal of experimental and clinical research 2025; (31()):e946570 doi:10.12659/MSM.946570.

Orthopedic manifestations of ataxia telangiectasia in children.

Ciftci S, Gupta A, Ulusaloglu AC, et al.

Journal of pediatric orthopedics. Part B 2026; (35(3)):300-306 doi:10.1097/BPB.0000000000001294.

Rare Genetic Variants Underlying Primary Immunodeficiency: Clinical, Pulmonary, and Genetic Insights from Two Pediatric Cases.

Sikhayeva N, Volodchenko S, Kovzel E, et al.

Genes 2025; (16(11)) doi:10.3390/genes16111247.

A 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen.

Muneer M, Al-Kubati A, Al-Ghashm A, et al.

Clinical medicine insights. Case reports 2025; (18()):11795476251408138 doi:10.1177/11795476251408138.

Progressive cerebellar ataxia with extensive peripheral telangiectasias in ataxia-telangiectasia.

Ozturk GO, Aksoy YA

BMJ case reports 2025; (18(12)) doi:10.1136/bcr-2025-269367.

Serum alpha fetoprotein in Ataxia Telangiectasia: New lessons about an old biomarker.

Veenhuis SJG, van Os NJH, Swinkels AEH, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2026; (61()):42-46 doi:10.1016/j.ejpn.2026.02.006.

The Role of Hematopoietic Cell Transplantation in Ataxia-Telangiectasia.

Alkhouli L, Rotz S, Takagi M, Sharma R

Pediatric blood & cancer 2026; (73(8)):e70414 doi:10.1002/1545-5017.70414.

Ataxia-Telangiectasia and Associated Bronchiectasis: Case Report and Literature Review.

Taraș R, Dima M, Axente M, et al.

Journal of clinical medicine 2026; (15(12)) doi:10.3390/jcm15124524.

Walking Capacity in Children With Ataxia Telangiectasia From the Global Ataxia Telangiectasia Family Data Platform.

Horn B, Smith A, Thornton J, et al.

Annals of the Child Neurology Society 2025; (3(4)):299-307 doi:10.1002/cns3.70039.