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Cardiology740 papers

Ataxia telangiectasia variant

Last edited: 4/23/2026

Overview

Ataxia telangiectasia (AT) is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, and increased cancer risk due to loss of functional ATM protein, leading to impaired DNA repair and cellular homeostasis 1 6 44.

Diagnosis

Clinical Features: Progressive cerebellar ataxia, telangiectasias, immunodeficiency, and increased susceptibility to malignancies 1 2 6.

Genetic Testing: Identification of mutations in the ATM gene 12 60.

Functional Tests: Evaluation of immune function, including lymphocyte subpopulations and thymic output 39.

Imaging: Neuroimaging to assess cerebellar atrophy 21.

Ophthalmic Evaluation: Regular eye exams to monitor for visual impairment and retinal abnormalities 21 45.

Management

Supportive Care: Physical therapy, occupational therapy, and nutritional support 6 23.

Immunoglobulin Replacement: To manage immunodeficiency 6 39.

Cancer Surveillance: Regular screening for malignancies due to increased risk 4 6.

Laser Therapy: Treatment of telangiectasias using Nd:YAG laser or other laser modalities 3 37 68.

NAD+ Precursors: Nicotinamide riboside (NR) supplementation shown to improve coordination and eye movements 9 11 (Evidence: Moderate).

Glucocorticoids: Betamethasone therapy may offer benefits based on serendipitous observations 50 (Evidence: Weak).

Special Populations

Pediatrics: Early diagnosis and multidisciplinary care are crucial 6 16.

Comorbidities: Management of immunodeficiency and increased cancer risk requires specialized surveillance and interventions 4 6 39.

Key Recommendations

Genetic Testing for ATM Mutations: Essential for definitive diagnosis 12 60 (Evidence: Strong).

Regular Immune Function Monitoring: Including lymphocyte subpopulations and thymic output to manage immunodeficiency 39 (Evidence: Moderate).

Cancer Surveillance Programs: Implement due to heightened malignancy risk 4 (Evidence: Strong).

Supportive Therapies: Incorporate physical and occupational therapy to maintain function 6 (Evidence: Expert opinion).

Consider NAD+ Precursors: Evaluate nicotinamide riboside supplementation for potential neurological benefits 9 11 (Evidence: Moderate).

References

Showing 100 most recent of 432 indexed papers.

1 Vinciguerra M, El Kharef C, Bruhn C, Falbo L, Milanese C, Audano M et al.. Targeting the FNIP2-SERCA2b axis improves metabolic and mitochondrial defects in Ataxia Telangiectasia. Cell death & disease 2026. link 2 Westover KR, Hou Y, Wang F, Wang Y, Li Y, Seong R et al.. Loss of ATM causes R-loop-associated transcriptional dysregulation and attenuates the related response to DNA damage. The Journal of biological chemistry 2026. link 3 Bajerski JC, Giordani CB, Borges LB, Taniguchi JB, Neto EA, Kikuchi R et al.. Treatment of lower limb telangiectasias with Nd: Yag 1064 nm laser with and without tumescent anesthesia - TTL technique. Phlebology 2025. link 4 Magnarelli A, Liu Q, Wang F, Peng XP, Wright J, Oak N et al.. Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia. The Journal of allergy and clinical immunology 2025. link 5 Jayanth N, Mahé G, Campbell M, Lipkin M, Jain S, van de Bospoort R et al.. Drug repurposing screen for the rare disease ataxia-telangiectasia. SLAS discovery : advancing life sciences R & D 2025. link 6 Khan M, Cassidy E, Parkin T, Wallace A, Carter B, Paton J et al.. The Care and Management of Children and Young People with Ataxia Telangiectasia Provided by Nurses and Allied Health Professionals: a Scoping Review. Cerebellum (London, England) 2024. link 7 Deacon S, Dalleywater W, Peat C, Paine SML, Dineen RA. Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment. Cerebellum (London, England) 2024. link 8 Garg M, Li L, Godbout R. Role of DDX1 in the oxidative response of ataxia telangiectasia patient-derived fibroblasts. Redox biology 2024. link 9 Presterud R, Deng WH, Wennerström AB, Burgers T, Gajera B, Mattsson K et al.. Long-Term Nicotinamide Riboside Use Improves Coordination and Eye Movements in Ataxia Telangiectasia. Movement disorders : official journal of the Movement Disorder Society 2024. link 10 Korolova K, Korolova Z, Teplyi V, Sydorenko R. MINI-INVASIVE TREATMENT METHODS OF SPIDER VEINS: SCLEROTHERAPY AND RADIOFREQUENCY THERMOCOAGULATION. Wiadomosci lekarskie (Warsaw, Poland : 1960) 2023. link 11 Steinbrücker K, Tiefenthaler E, Schernthaner EM, Jungwirth J, Wortmann SB. Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual. Neuropediatrics 2023. link 12 Pourahmadiyan A, Alipour P, Golchin N, Tabatabaiefar MA. Next-generation sequencing reveals a novel pathogenic variant in the . The International journal of neuroscience 2022. link 13 Turkmen D, Altunisik N, Sener S. The efficacy of a single-session pro-yellow laser in the treatment of facial telangiectasia. Lasers in medical science 2021. link 14 Mekić S, Wigmann C, Gunn DA, Jacobs LC, Kayser M, Schikowski T et al.. Genetics of facial telangiectasia in the Rotterdam Study: a genome-wide association study and candidate gene approach. Journal of the European Academy of Dermatology and Venereology : JEADV 2021. link 15 Cirotti C, Filomeni G. ATM plays antioxidant, boosting mitophagy . Autophagy 2021. link 16 Schoenaker MHD, Blom M, de Vries MC, Weemaes CMR, van der Burg M, Willemsen MAAP. Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective. European journal of pediatrics 2020. link 17 Shenhod E, Benzeev B, Sarouk I, Heimer G, Nissenkorn A. Functional parameter measurements in children with ataxia telangiectasia. Developmental medicine and child neurology 2020. link 18 Mekić S, Hamer MA, Wigmann C, Gunn DA, Kayser M, Jacobs LC et al.. Epidemiology and determinants of facial telangiectasia: a cross-sectional study. Journal of the European Academy of Dermatology and Venereology : JEADV 2020. link 19 Zhang L, Jia Y, Qi X, Li M, Wang S, Wang Y. Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020. link 20 Nam CH, Kim MH, Hong SP, Park BC. Fractional 532-nm KTP diode laser and 595-nm pulsed dye laser in treatment of facial telangiectatic erythema. Journal of cosmetic dermatology 2019. link 21 Iodice A, Galli J, Molinaro A, Franzoni A, Micheli R, Pinelli L et al.. Neurovisual Assessment in Children with Ataxia Telangiectasia. Neuropediatrics 2018. link 22 Lebeer M, Wuyts WA, Cassiman D, Laleman W, Nevens F, Pirenne J et al.. Multiple Solid Organ Transplantation in Telomeropathy: Case Series and Literature Review. Transplantation 2018. link 23 Krauthammer A, Lahad A, Sarouk Y, Somech R, Nissenkorn A, Modan-Moses D et al.. Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia. Nutrition (Burbank, Los Angeles County, Calif.) 2018. link 24 Barth T, Zeman F, Helbig H, Gamulescu MA. Intravitreal anti-VEGF treatment for subretinal neovascularisation secondary to type 2 idiopathic juxtafoveolar telangiectasia. International ophthalmology 2018. link 25 Gul E, Sayar EH, Gungor B, Eroglu FK, Surucu N, Keles S et al.. Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency. The Journal of allergy and clinical immunology 2018. link 26 Santiago FR, Piscoya M, Chi YW. A sonographic study of thigh telangiectasias. Phlebology 2018. link 27 Schoenaker MHD, Van Os NJH, Van der Flier M, Van Deuren M, Seyger MM, Taylor AMR et al.. Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms. European journal of medical genetics 2018. link 28 Liu J, Zhou BR, Wu D, Xu Y, Luo D. Sequential delivery of intense pulsed light and long-pulse 1.064-nm neodymium-doped yttrium aluminum garnet laser shows better effect in the treatment of facial telangiectasias than using them separately. Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia 2017. link 29 Devaney R, Pasalodos S, Suri M, Bush A, Bhatt JM. Ataxia telangiectasia: presentation and diagnostic delay. Archives of disease in childhood 2017. link 30 Mambrini G, Mandolini M, Rossi L, Pierigè F, Capogrossi G, Salvati P et al.. Ex vivo encapsulation of dexamethasone sodium phosphate into human autologous erythrocytes using fully automated biomedical equipment. International journal of pharmaceutics 2017. link 31 Fang EF, Bohr VA. NAD. Autophagy 2017. link 32 Bush R, Bush P. Evaluation of sodium tetradecyl sulfate and polidocanol as sclerosants for leg telangiectasia based on histological evaluation with clinical correlation. Phlebology 2017. link 33 Knöpfel N, Martín-Santiago A, Saus C, Escudero-Góngora MM, Del Pozo LJ, Gómez C. Extensive Acquired Telangiectasias: Comparison of Generalized Essential Telangiectasia and Cutaneous Collagenous Vasculopathy. Actas dermo-sifiliograficas 2017. link 34 Menotta M, Biagiotti S, Bartolini G, Marzia B, Orazi S, Germani A et al.. Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone. Cell biochemistry and biophysics 2017. link 35 Liu XL, Wang T, Huang XJ, Zhou HY, Luan XH, Shen JY et al.. Novel ATM mutations with ataxia-telangiectasia. Neuroscience letters 2016. link 36 Bhatt JM, Bush A, van Gerven M, Nissenkorn A, Renke M, Yarlett L et al.. ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia. European respiratory review : an official journal of the European Respiratory Society 2015. link 37 Christiansen K, Drosner M, Bjerring P. Optimized settings for Nd:YAG laser treatments of leg telangiectasias. Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology 2015. link 38 Taylor AM, Lam Z, Last JI, Byrd PJ. Ataxia telangiectasia: more variation at clinical and cellular levels. Clinical genetics 2015. link 39 Celiksoy MH, Topal E, Yıldıran A. Comparison of major lymphocyte subpopulations and recent thymic emigrants in patients with ataxia telangiectasia and age-matched healthy groups. Allergologia et immunopathologia 2015. link 40 Nakayama T, Sato Y, Uematsu M, Takagi M, Hasegawa S, Kumada S et al.. Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia. Brain & development 2015. link 41 Parlar B, Blazek C, Cazzaniga S, Naldi L, Kloetgen HW, Borradori L et al.. Treatment of lower extremity telangiectasias in women by foam sclerotherapy vs. Nd:YAG laser: a prospective, comparative, randomized, open-label trial. Journal of the European Academy of Dermatology and Venereology : JEADV 2015. link 42 Sharma NK, Lebedeva M, Thomas T, Kovalenko OA, Stumpf JD, Shadel GS et al.. Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia. DNA repair 2014. link 43 Félix E, Gimenes AC, Costa-Carvalho BT. Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia. Pediatric pulmonology 2014. link 44 Bernstein EF, Noyaner-Turley A, Renton B. Treatment of spider veins of the lower extremity with a novel 532 nm KTP laser. Lasers in surgery and medicine 2014. link 45 Chhablani J, Mithal K, Rao H, Narayanan R. Diagnosis of subretinal neovascularization associated with idiopathic juxtafoveal retinal telangiectasia - fluorescein angiography versus spectral-domain optical coherence tomography. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2014. link 46 Keene EJ. Diagnostic dental radiographs not allowed! A child with ataxia telangiectasia. European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry 2014. link 47 Iannitti T, Rottigni V, Torricelli F, Palmieri B. Combination therapy of hyaluronic acid mesotherapic injections and sclerotherapy for treatment of lower leg telangiectasia without major venous insufficiency: a preliminary clinical study. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2014. link 48 Ferrara F, Ferrara G. Treating telangiectasias: my method. Minerva cardioangiologica 2013. link 49 Mizutani S, Takagi M. XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility. International journal of hematology 2013. link 50 Giardino G, Fusco A, Romano R, Gallo V, Maio F, Esposito T et al.. Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis. European journal of neurology 2013. link 51 Worth PF, Srinivasan V, Smith A, Last JI, Wootton LL, Biggs PM et al.. Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia. Movement disorders : official journal of the Movement Disorder Society 2013. link 52 Desai SD, Reed RE, Babu S, Lorio EA. ISG15 deregulates autophagy in genotoxin-treated ataxia telangiectasia cells. The Journal of biological chemistry 2013. link 53 Cavalieri S, Pozzi E, Gatti RA, Brusco A. Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO). European journal of human genetics : EJHG 2013. link 54 Moreno-Moraga J, Hernández E, Royo J, Alcolea J, Isarría MJ, Pascu ML et al.. Optimal and safe treatment of spider leg veins measuring less than 1.5 mm on skin type IV patients, using repeated low-fluence Nd:YAG laser pulses after polidocanol injection. Lasers in medical science 2013. link 55 Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF et al.. Newborn screening for SCID identifies patients with ataxia telangiectasia. Journal of clinical immunology 2013. link 56 Pietzner J, Baer PC, Duecker RP, Merscher MB, Satzger-Prodinger C, Bechmann I et al.. Bone marrow transplantation improves the outcome of Atm-deficient mice through the migration of ATM-competent cells. Human molecular genetics 2013. link 57 Van Hoof T, Vangestel C, Shacklock M, Kerckaert I, D'Herde K. Asymmetry of the ULNT1 elbow extension range-of-motion in a healthy population: consequences for clinical practice and research. Physical therapy in sport : official journal of the Association of Chartered Physiotherapists in Sports Medicine 2012. link 58 Ramelet AA. Sclerotherapy in tumescent anesthesia of reticular veins and telangiectasias. Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 2012. link 59 Tankimanova M, Capper R, Letsolo BT, Rowson J, Jones RE, Britt-Compton B et al.. Mre11 modulates the fidelity of fusion between short telomeres in human cells. Nucleic acids research 2012. link 60 Jacquemin V, Rieunier G, Jacob S, Bellanger D, d'Enghien CD, Laugé A et al.. Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. European journal of human genetics : EJHG 2012. link 61 Iannitti T, Lonardi R, Rottigni V, Palmieri B. Neodymium:YAG laser treatment of lower leg telangiectasia: a new minimally invasive approach. Lasers in medical science 2012. link 62 Lee JH, Na SY, Choi M, Park HS, Cho S. Long-pulsed Nd : YAG laser: does it give clinical benefit on the treatment of resistant telangiectasia?. Journal of the European Academy of Dermatology and Venereology : JEADV 2012. link 63 Munia MA, Wolosker N, Munia CG, Chao WS, Puech-Leão P. Comparison of laser versus sclerotherapy in the treatment of lower extremity telangiectases: a prospective study. Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 2012. link 64 McKinnon PJ. ATM and the molecular pathogenesis of ataxia telangiectasia. Annual review of pathology 2012. link 65 Tanghetti EA. Split-face randomized treatment of facial telangiectasia comparing pulsed dye laser and an intense pulsed light handpiece. Lasers in surgery and medicine 2012. link 66 Byrd PJ, Srinivasan V, Last JI, Smith A, Biggs P, Carney EF et al.. Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia. British journal of cancer 2012. link 67 Kern P, Ramelet AA, Wutschert R, Mazzolai L. A double-blind, randomized study comparing pure chromated glycerin with chromated glycerin with 1% lidocaine and epinephrine for sclerotherapy of telangiectasias and reticular veins. Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 2011. link 68 Ozden MG, Bahçivan M, Aydin F, Şentürk N, Bek Y, Cantürk T et al.. Clinical comparison of potassium-titanyl-phosphate (KTP) versus neodymium:YAG (Nd:YAG) laser treatment for lower extremity telangiectases. The Journal of dermatological treatment 2011. link 69 Perez MA, Shechtman DL, Gurwood A. The continuum of primary retinal telangiectasia. Optometry (St. Louis, Mo.) 2011. link 70 Goldman MP. My sclerotherapy technique for telangiectasia and reticular veins. Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 2010. link 71 Madan V, Ferguson J. Using the ultra-long pulse width pulsed dye laser and elliptical spot to treat resistant nasal telangiectasia. Lasers in medical science 2010. link 72 Isaian A, Bogdanova NV, Houshmand M, Movahadi M, Aghamohammadi A, Rezaei N et al.. BAK, BAX, and NBK/BIK proapoptotic gene alterations in Iranian patients with ataxia telangiectasia. Journal of clinical immunology 2010. link 73 Davis T, Kipling D. Assessing the role of stress signalling via p38 MAP kinase in the premature senescence of ataxia telangiectasia and Werner syndrome fibroblasts. Biogerontology 2009. link 74 Khan AO, Oystreck DT, Koenig M, Salih MA. Ophthalmic features of ataxia telangiectasia-like disorder. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2008. link 75 Suzuki K, Tsugawa K, Oki E, Morio T, Ito E, Tanaka H. Vesical varices and telangiectasias in a patient with ataxia telangiectasia. Pediatric nephrology (Berlin, Germany) 2008. link 76 Stagni V, di Bari MG, Cursi S, Condò I, Cencioni MT, Testi R et al.. ATM kinase activity modulates Fas sensitivity through the regulation of FLIP in lymphoid cells. Blood 2008. link 77 Almeida JI, Raines JK. Laser ablation of cutaneous leg veins. Perspectives in vascular surgery and endovascular therapy 2008. link 78 Berni A, Meschini R, Filippi S, Palitti F, De Amicis A, Chessa L. L-carnitine enhances resistance to oxidative stress by reducing DNA damage in Ataxia telangiectasia cells. Mutation research 2008. link 79 Masci A, Mastronicola D, Arese M, Piane M, De Amicis A, Blanck TJ et al.. Control of cell respiration by nitric oxide in Ataxia Telangiectasia lymphoblastoid cells. Biochimica et biophysica acta 2008. link 80 Nakamura H. hTERT-immortalized cells useful for analyzing effects of low-dose-rate radiation on human cells. Journal of radiation research 2008. link 81 Jorge R, Costa RA, Calucci D, Scott IU. Intravitreal bevacizumab (Avastin) associated with the regression of subretinal neovascularization in idiopathic juxtafoveolar retinal telangiectasis. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2007. link 82 Mandal S, Venkatesh P, Abbas Z, Vohra R, Garg S. Intravitreal bevacizumab (Avastin) for subretinal neovascularization secondary to type 2A idiopathic juxtafoveal telangiectasia. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2007. link 83 Ross EV, Uebelhoer NS, Domankevitz Y. Use of a novel pulse dye laser for rapid single-pass purpura-free treatment of telangiectases. Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 2007. link 84 Kan'o M, Kawata T, Ito H, Shigematsu N, Liu C, Uno T et al.. Repair of potentially lethal damage in normal cells and ataxia telangiectasia cells; consideration of non-homologous end-joining. Journal of radiation research 2007. link 85 Prieto V, Zhang P, Sadick NS. Comparison of a combination diode laser and radiofrequency device (Polaris) and a long-pulsed 1064-nm Nd:YAG laser (Lyra) on leg telangiectases. Histologic and immunohistochemical analysis. Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology 2006. link 86 Ali MM, Teimory M, Sarhan M. Generalized essential telangiectasia with conjunctival involvement. Clinical and experimental dermatology 2006. link 87 Reichenbach J, Schubert R, Feinberg J, Beck O, Rosewich M, Rose MA et al.. Impaired interferon-gamma production in response to live bacteria and Toll-like receptor agonists in patients with ataxia telangiectasia. Clinical and experimental immunology 2006. link 88 Mirzayans R, Severin D, Murray D. Relationship between DNA double-strand break rejoining and cell survival after exposure to ionizing radiation in human fibroblast strains with differing ATM/p53 status: implications for evaluation of clinical radiosensitivity. International journal of radiation oncology, biology, physics 2006. link 89 Jiang H, Tang B, Xia K, Hu Z, Shen L, Tang J et al.. Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia. Journal of the neurological sciences 2006. link 90 Corazza M, Zampino MR, Lauriola MM, Vecchiati G, Virgili A. An unusual local reaction after microsclerotherapy with chromated glycerin. Dermatitis : contact, atopic, occupational, drug 2006. link 91 Kauvar AN, Khrom T. Laser treatment of leg veins. Seminars in cutaneous medicine and surgery 2005. link 92 Ross EV, Domankevitz Y. Laser treatment of leg veins: Physical mechanisms and theoretical considerations. Lasers in surgery and medicine 2005. link 93 Firat AK, Karakaş HM, Firat Y, Yakinci C. Quantitative evaluation of brain involvement in ataxia telangiectasia by diffusion weighted MR imaging. European journal of radiology 2005. link 94 Claret Teruel G, Giner Muñoz MT, Plaza Martín AM, Martín Mateos MA, Piquer Gibert M, Sierra Martínez JI. Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2005. link 95 Fernet M, Gribaa M, Salih MA, Seidahmed MZ, Hall J, Koenig M. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Human molecular genetics 2005. link 96 Cameron H, Ibbotson SH, Ferguson J, Dawe RS, Moseley H. A randomised, blinded, controlled study of the clinical relevance of matching pulse duration to thermal relaxation time when treating facial telangiectasia. Lasers in medical science 2005. link 97 Terzoudi GI, Manola KN, Pantelias GE, Iliakis G. Checkpoint abrogation in G2 compromises repair of chromosomal breaks in ataxia telangiectasia cells. Cancer research 2005. link 98 Gupta V, Gupta A, Dogra MR, Agarwal A. Optical coherence tomography in group 2A idiopathic juxtafoveolar telangiectasis. Ophthalmic surgery, lasers & imaging : the official journal of the International Society for Imaging in the Eye 2005. link 99 Hosokawa K, Chen P, Lavin FM, Bottle ES. The impact of carboxy nitroxide antioxidants on irradiated ataxia telangiectasia cells. Free radical biology & medicine 2004. link 100 Drexler GA, Wilde S, Beisker W, Ellwart J, Eckardt-Schupp F, Fritz E. The rate of extrachromosomal homologous recombination within a novel reporter plasmid is elevated in cells lacking functional ATM protein. DNA repair 2004. link

Original source

[1]
Targeting the FNIP2-SERCA2b axis improves metabolic and mitochondrial defects in Ataxia Telangiectasia. — Vinciguerra M, El Kharef C, Bruhn C, Falbo L, Milanese C, Audano M et al. Cell death & disease (2026)
[2]
Loss of ATM causes R-loop-associated transcriptional dysregulation and attenuates the related response to DNA damage. — Westover KR, Hou Y, Wang F, Wang Y, Li Y, Seong R et al. The Journal of biological chemistry (2026)
[3]
Treatment of lower limb telangiectasias with Nd: Yag 1064 nm laser with and without tumescent anesthesia - TTL technique. — Bajerski JC, Giordani CB, Borges LB, Taniguchi JB, Neto EA, Kikuchi R et al. Phlebology (2025)
[4]
Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia. — Magnarelli A, Liu Q, Wang F, Peng XP, Wright J, Oak N et al. The Journal of allergy and clinical immunology (2025)
[5]
Drug repurposing screen for the rare disease ataxia-telangiectasia. — Jayanth N, Mahé G, Campbell M, Lipkin M, Jain S, van de Bospoort R et al. SLAS discovery : advancing life sciences R & D (2025)
[6]
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, Wallace A, Carter B, Paton J et al. Cerebellum (London, England) (2024)
[7]
Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment. — Deacon S, Dalleywater W, Peat C, Paine SML, Dineen RA Cerebellum (London, England) (2024)
[8]
Role of DDX1 in the oxidative response of ataxia telangiectasia patient-derived fibroblasts. — Garg M, Li L, Godbout R Redox biology (2024)
[9]
Long-Term Nicotinamide Riboside Use Improves Coordination and Eye Movements in Ataxia Telangiectasia. — Presterud R, Deng WH, Wennerström AB, Burgers T, Gajera B, Mattsson K et al. Movement disorders : official journal of the Movement Disorder Society (2024)
[10]
MINI-INVASIVE TREATMENT METHODS OF SPIDER VEINS: SCLEROTHERAPY AND RADIOFREQUENCY THERMOCOAGULATION. — Korolova K, Korolova Z, Teplyi V, Sydorenko R Wiadomosci lekarskie (Warsaw, Poland : 1960) (2023)
[11]
Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual. — Steinbrücker K, Tiefenthaler E, Schernthaner EM, Jungwirth J, Wortmann SB Neuropediatrics (2023)
[12]
Next-generation sequencing reveals a novel pathogenic variant in the — Pourahmadiyan A, Alipour P, Golchin N, Tabatabaiefar MA The International journal of neuroscience (2022)
[13]
The efficacy of a single-session pro-yellow laser in the treatment of facial telangiectasia. — Turkmen D, Altunisik N, Sener S Lasers in medical science (2021)
[14]
Genetics of facial telangiectasia in the Rotterdam Study: a genome-wide association study and candidate gene approach. — Mekić S, Wigmann C, Gunn DA, Jacobs LC, Kayser M, Schikowski T et al. Journal of the European Academy of Dermatology and Venereology : JEADV (2021)
[15]
ATM plays antioxidant, boosting mitophagy — Cirotti C, Filomeni G Autophagy (2021)
[16]
Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective. — Schoenaker MHD, Blom M, de Vries MC, Weemaes CMR, van der Burg M, Willemsen MAAP European journal of pediatrics (2020)
[17]
Functional parameter measurements in children with ataxia telangiectasia. — Shenhod E, Benzeev B, Sarouk I, Heimer G, Nissenkorn A Developmental medicine and child neurology (2020)
[18]
Epidemiology and determinants of facial telangiectasia: a cross-sectional study. — Mekić S, Hamer MA, Wigmann C, Gunn DA, Kayser M, Jacobs LC et al. Journal of the European Academy of Dermatology and Venereology : JEADV (2020)
[19]
Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report. — Zhang L, Jia Y, Qi X, Li M, Wang S, Wang Y Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2020)
[20]
Fractional 532-nm KTP diode laser and 595-nm pulsed dye laser in treatment of facial telangiectatic erythema. — Nam CH, Kim MH, Hong SP, Park BC Journal of cosmetic dermatology (2019)
[21]
Neurovisual Assessment in Children with Ataxia Telangiectasia. — Iodice A, Galli J, Molinaro A, Franzoni A, Micheli R, Pinelli L et al. Neuropediatrics (2018)
[22]
Multiple Solid Organ Transplantation in Telomeropathy: Case Series and Literature Review. — Lebeer M, Wuyts WA, Cassiman D, Laleman W, Nevens F, Pirenne J et al. Transplantation (2018)
[23]
Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia. — Krauthammer A, Lahad A, Sarouk Y, Somech R, Nissenkorn A, Modan-Moses D et al. Nutrition (Burbank, Los Angeles County, Calif.) (2018)
[24]
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BAK, BAX, and NBK/BIK proapoptotic gene alterations in Iranian patients with ataxia telangiectasia. — Isaian A, Bogdanova NV, Houshmand M, Movahadi M, Aghamohammadi A, Rezaei N et al. Journal of clinical immunology (2010)
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