Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives

Growth in ataxia telangiectasia

(2021) Valerie A. I. Natale et al.   Orphanet Journal of Rare Diseases

ATM: Translating the DNA Damage Response to Adaptive Immunity

(2021) Thomas J. Weitering et al.   TRENDS IN IMMUNOLOGY

Neurofilament light chain: A novel blood biomarker in patients with ataxia telangiectasia

(2021) S.J.G. Veenhuis et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

(2021) Marguerite Blignaut et al.   Oxidative Medicine and Cellular Longevity

The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives…one at a time

(2020) Jessica Quinn et al.   IMMUNOLOGIC RESEARCH

Ataxia telangiectasia mutated pathway disruption affects hepatic DNA and tissue damage in nonalcoholic fatty liver disease

(2020) Preeti Viswanathan et al.   EXPERIMENTAL AND MOLECULAR PATHOLOGY

Diabetes in Patients With Ataxia Telangiectasia: A National Cohort Study

(2020) Helena Donath et al.   Frontiers in Pediatrics

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders

(2019) David Buchbinder et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Epstein-Barr Virus (EBV)-Related Lymphoproliferative Disorders in Ataxia Telangiectasia: Does ATM Regulate EBV Life Cycle?

(2019) Moussab Tatfi et al.   Frontiers in Immunology

Association between asthma and lung function in adolescents born very preterm: results of the EPIPAGE cohort study

(2018) Alice Hadchouel et al.   THORAX

Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia

(2018) Sherry Y. Tang et al.   CEREBELLUM

Inflammation and transcriptional responses of peripheral blood mononuclear cells in classic ataxia telangiectasia

(2018) Sharon A. McGrath-Morrow et al.   PLoS One

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

(2017) Jasmin Roohi et al.   JOURNAL OF HUMAN GENETICS

Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?

(2017) Talita Lemos Paulino et al.   Orphanet Journal of Rare Diseases

Thymic output: Assessment of CD4+ recent thymic emigrants and T-Cell receptor excision circles in infants

(2016) Eugene Ravkov et al.   CYTOMETRY PART B-CLINICAL CYTOMETRY

Serum Interleukin-6 Levels and Pulmonary Function in Ataxia-Telangiectasia

(2016) Sharon A. McGrath-Morrow et al.   JOURNAL OF PEDIATRICS

Ataxia telangiectasia: a review

(2016) Cynthia Rothblum-Oviatt et al.   Orphanet Journal of Rare Diseases

Risk of Atherosclerosis in Patients with Ataxia Telangiectasia

(2015) Itana Gomes Alves Andrade et al.   ANNALS OF NUTRITION AND METABOLISM

Ataxia telangiectasia: more variation at clinical and cellular levels

(2014) A.M.R. Taylor et al.   CLINICAL GENETICS

Successful Treatment of Diffuse Large B-Cell Lymphoma in a Patient With Ataxia Telangiectasia Using Rituximab

(2013) Shizuka Machida et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia

(2012) Paul F. Worth et al.   MOVEMENT DISORDERS

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

(2011) Romain Micol et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia

(2011) Maureen A Lefton-Greif et al.   Orphanet Journal of Rare Diseases

Evaluation and management of pulmonary disease in ataxia-telangiectasia

(2010) Sharon A. McGrath-Morrow et al.   PEDIATRIC PULMONOLOGY

Polysomnographic values in adolescents with ataxia telangiectasia

(2008) Sharon A. McGrath-Morrow et al.   PEDIATRIC PULMONOLOGY