%D8%B1%D9%86%D8%AD_%D8%AA%D9%88%D8%B3%D8%B9_%D8%A7%D9%84%D8%B4%D8%B9%D9%8A%D8%B1%D8%A7%D8%AACategory:Ataxia_telangiectasiaLouis-Bar-SyndromAtaxia%E2%80%93telangiectasiaAtaxia-TelangiectasiaAtaxie_t%C3%A9langiectasie%D7%AA%D7%A1%D7%9E%D7%95%D7%A0%D7%AA_%D7%90%D7%98%D7%A7%D7%A1%D7%99%D7%94_%D7%98%D7%9C%D7%A0%D7%92%D7%99%D7%90%D7%A7%D7%98%D7%96%D7%99%D7%94Atassia-teleangectasia%E6%AF%9B%E7%B4%B0%E8%A1%80%E7%AE%A1%E6%8B%A1%E5%BC%B5%E6%80%A7%E9%81%8B%E5%8B%95%E5%A4%B1%E8%AA%BF%E7%97%87Zesp%C3%B3%C5%82_ataksja-teleangiektazjaAtaxia_telangiectasia%D0%90%D1%82%D0%B0%D0%BA%D1%81%D0%B8%D1%8F_%D1%82%D0%B5%D0%BB%D0%B5%D0%B0%D0%BD%D0%B3%D0%B8%D1%8D%D0%BA%D1%82%D0%B0%D0%B7%D0%B8%D1%8F%D0%90%D1%82%D0%B0%D0%BA%D1%81%D0%B8%D1%98%D0%B0-%D1%82%D0%B5%D0%BB%D0%B5%D0%B0%D0%BD%D0%B3%D0%B8%D0%B5%D0%BA%D1%82%D0%B0%D1%82%D0%B8%D0%BA%D0%B0%E0%B9%82%E0%B8%A3%E0%B8%84%E0%B8%81%E0%B8%A5%E0%B9%89%E0%B8%B2%E0%B8%A1%E0%B9%80%E0%B8%99%E0%B8%B7%E0%B9%89%E0%B8%AD%E0%B9%80%E0%B8%AA%E0%B8%B5%E0%B8%A2%E0%B8%81%E0%B8%B2%E0%B8%A3%E0%B8%9B%E0%B8%A3%E0%B8%B0%E0%B8%AA%E0%B8%B2%E0%B8%99%E0%B8%87%E0%B8%B2%E0%B8%99%E0%B9%81%E0%B8%A5%E0%B8%B0%E0%B8%AB%E0%B8%A5%E0%B8%AD%E0%B8%94%E0%B9%80%E0%B8%A5%E0%B8%B7%E0%B8%AD%E0%B8%94%E0%B8%9D%E0%B8%AD%E0%B8%A2%E0%B8%9E%E0%B8%AD%E0%B8%87Ataksi-Telanjiektazi%D0%90%D1%82%D0%B0%D0%BA%D1%81%D1%96%D1%8F_%D1%82%D0%B5%D0%BB%D0%B5%D0%B0%D0%BD%D0%B3%D1%96%D0%B5%D0%BA%D1%82%D0%B0%D0%B7%D1%96%D1%8FQ387082%E5%85%B1%E6%BF%9F%E5%A4%B1%E8%AA%BF%E5%BE%AE%E8%A1%80%E7%AE%A1%E6%93%B4%E5%BC%B5%E7%97%87%E5%80%99%E7%BE%A4
about
Baclofen Treatment of Ataxia TelangiectasiaImmunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia PatientsOpen-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 StudyN-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)EDS in Ataxia Telangiectasia PatientsEffects of Vitamin B3 in Patients With Ataxia TelangiectasiaInternational Ataxia Rating Scale in Younger PatientsPancreatic Cancer Screening of High-Risk Individuals in ArkansasCell-Based Approaches For Modeling and Treating Ataxia-TelangiectasiaOxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-TRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordStatus of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied LongitudinallyConjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT)Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia TelangiectasiaBody Composition and Hormonal Status in Ataxia TelangiectasiaSusceptibility to Infections in Ataxia TelangiectasiaAmantadine for Improving Neurologic Symptoms in Ataxia-TelangiectasiaStudy for Treatment of Cancer in Children With Ataxia-telangiectasiaTreatment of Leukemia and Lymphoma in Children With Ataxia TelangiectasiaGenetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated)Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone
P1050
P2293
Ataxia telangiectasia: a reviewGastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literatureDNA damage and oxidative stress in human disease.ATM-deficient human neural stem cells as an in vitro model system to study neurodegeneration.Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome.Ataxia telangiectasia genes and predisposition to leukaemia, lymphoma and breast cancer.Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia TelangiectasiaEpstein-Barr Virus (EBV)-Related Lymphoproliferative Disorders in Ataxia Telangiectasia: Does ATM Regulate EBV Life Cycle?Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair DisordersDNA damage and repair in individuals with ataxia-telangiectasia and their parentsAtaxia telangiectasia and Rad3-related inhibitors and cancer therapy: where we standActivation of Tel1 kinase requires Rad50 ATPase and long nucleosome-free DNA, but no DNA ends
P921
Q61914975-7B47A047-807A-425A-B323-81011040B156Q61938237-1C00CFFA-454B-492C-8E0E-1C2502E847A2Q63399366-E5A5BB85-DFA4-43B0-A418-41A8BA322479Q63592497-E88E4FE9-6E9C-4FE0-9BEE-A738151A09E1Q64139515-7E614DC9-1006-4018-BBEA-48C9B51BEFC8Q64150732-E9F7A960-CE79-447A-AC0D-2801A379D697Q64354737-D399F457-E0A5-4E4F-8627-8C5E2C4C6083Q64597900-2374A0D7-5C5B-4387-A547-01DBE47169F9Q64602975-4A765A0B-B5DF-450E-A891-0151E06EA1DCQ64614185-49B550BF-81D4-4EB3-87E8-9A78CF7B6BDEQ64634650-52125B9A-D03F-40B1-8CA5-D987DA6D2188Q64657160-25893B6F-611C-4BBA-9AD4-519365EF5D0BQ64664782-DB1C6A40-19DA-4F7B-AC7E-DD7EE2E872FBQ64719672-C83FD684-055A-4D9F-9AE3-4A1AB7C38E91Q64807854-E884F87A-86E5-47F3-AB45-907C28418ED9Q65348673-2FBEC921-E154-4C32-AADD-3C5BA615BCB5Q65348683-DC175747-1DB3-4213-86B5-553A54533C8FQ65377914-C9C373ED-E4A8-41EF-875E-9B6C3F46C5E4Q66024720-273518B1-FCB1-4BBD-8A79-994F413376FAQ66389055-DEB3E1F6-D373-4D4C-B75C-C0BA7EDB96DFQ66395350-FE1204FC-026B-49F5-970D-BDE8BF238A35Q66406458-9736619F-F28A-4034-801C-0E1F6F5768C6
P1050
Q54609601-F7E7A45A-0503-4EFA-A1FF-A2D6EF00513DQ54609718-B875F0B8-8952-4475-94DD-4C2826425956Q54610103-49E70DB7-C25E-455C-9F9F-FF95993DBD86Q54740004-75226CCD-5D96-421C-9207-026311A9E1B3Q54745157-64ECE047-855B-497F-94D1-16F36E895C12Q54745158-C0AF3972-020B-4979-A784-A3C0E984BADDQ54750811-8EC8397F-F328-4307-A35E-ED165B448B4DQ54750813-3125C2C3-129D-4E22-AD6E-CBC53270BDA2Q54750816-EE9313FA-44B7-4C1C-8E84-5FE6FDC7DED1Q54750820-88BD4596-EEF8-4AE6-8E94-FE78D58E513FQ54750835-B60DC67A-0179-42B0-9D23-63CE68530C46Q54750838-0D984318-DACB-4781-A16C-33E573E4CDA0Q54750839-4986988E-000D-4BCF-82F7-C39B0875AF34Q54750842-14ECD093-45C4-4605-A539-DF95778F0390Q54750844-6D397DE3-985B-4414-8BC8-7518804C1C99Q54750849-9A302685-DEE8-4B60-8B27-BAB5A1CE4FF0Q54750852-E9162BA2-F54D-4E3C-AFEA-A3A719815FCFQ54750854-07EB3151-6666-41CB-87CF-6C2EF2363EE6Q54750855-1EC7374D-A071-4AF6-BE83-C26743717637Q54750859-33A3A292-63CA-4FE9-870E-C9EBAD7441E3Q54750861-CB27BCFD-4F1E-4921-9BF5-C806BC19E3ADQ54750862-76F523FF-F14B-4448-B150-DB66BE144FE6Q54750865-B9A3466A-E3E4-4D5B-A004-95719D53FB66Q54750906-6DE6EC4C-F2EB-49A4-98D1-D46FD383C910Q54750907-54FD5D32-2CF1-40C5-80D0-C2E00763138DQ54750909-676C78D6-3F69-4147-B4D3-A3EE6EE54654Q54750911-767A7A97-5074-4183-ACCD-F2E2E2E9089AQ54750917-BBC63A5A-0D0C-42CB-8342-13069DE81CAFQ54750918-C601FB54-BA78-4DB8-ABAE-8AEA5B71C12DQ54750920-D359E143-7055-4EB5-958E-C88C299853E8Q54750925-1F4D1A69-187C-4323-9563-D882FB044690Q54750927-65FD80D6-EF50-4EB7-B384-7152C657AFF2Q54750928-B93643F9-1CD9-4705-B5A0-9B5DB2A3EA00Q54750929-465F940E-A03A-4797-8317-4397F69F5F48Q54750932-864F3DF5-2FE9-40A0-9343-A0279A058D1CQ54750936-7BA60BC2-1725-4F0D-B5A4-BBDB072E52A4Q54750939-25F72E56-90DD-439E-A356-1ECE27326D37Q54750943-271E78AB-058A-42ED-902A-D3D3C0F61278Q54750945-B0CCFE21-EBCF-4771-BBD4-B79E7B76EF4FQ54750947-4E3589F5-EAD4-4776-80DD-4DEF281D2BBD
P5166
description
A rare, neurodegenerative, autosomal recessive human disease causing severe disability
@en
Krankheit
@de
malattia genetica a trasmissione autosomica recessiva
@it
systémová atrofie postihující primárně centrální nervovou soustavu
@cs
مرض يصيب الإنسان
@ar
name
Ataksi-Telanjiektazi
@tr
Ataxia telangiectasia
@pt
Ataxia-Telangiectasia
@es
Ataxie télangiectasie
@fr
Louis-Bar-Syndrom
@de
Zespół ataksja-teleangiektazja
@pl
atassia-teleangectasia
@it
ataxia telangiectasia
@en
syndrom Louis-Barové
@cs
Атаксия телеангиэктазия
@ru
type
label
Ataksi-Telanjiektazi
@tr
Ataxia telangiectasia
@pt
Ataxia-Telangiectasia
@es
Ataxie télangiectasie
@fr
Louis-Bar-Syndrom
@de
Zespół ataksja-teleangiektazja
@pl
atassia-teleangectasia
@it
ataxia telangiectasia
@en
syndrom Louis-Barové
@cs
Атаксия телеангиэктазия
@ru
altLabel
AT
@en
ATAXIA-TELANGIECTASIA
@en
ATAXIA-TELANGIECTASIA; AT
@en
At, Complementation Group C
@en
At, Complementation Group D
@en
At, Complementation Group E
@en
At, Complementation Group a
@en
At1
@en
Ataxia Telangiectasia
@en
Ataxia-Telangiectasia Variant
@en
prefLabel
Ataksi-Telanjiektazi
@tr
Ataxia telangiectasia
@pt
Ataxia-Telangiectasia
@es
Ataxie télangiectasie
@fr
Louis-Bar-Syndrom
@de
Zespół ataksja-teleangiektazja
@pl
atassia-teleangectasia
@it
ataxia telangiectasia
@en
syndrom Louis-Barové
@cs
Атаксия телеангиэктазия
@ru
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Ataxia telangiectasia