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

Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes

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Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders

(2018) James Slack et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia

(2018) Shahrzad Bakhtiar et al.   Frontiers in Immunology

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

(2017) Saleh Ghiasy et al.   Expert Review of Clinical Immunology

Gene Panel Testing for Inherited Cancer Risk

(2017) Michael J. Hall et al.   Journal of the National Comprehensive Cancer Network

Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma

(2016) R Beier et al.   BONE MARROW TRANSPLANTATION

Treatment of acute leukemia in children with ataxia telangiectasia (A-T)

(2016) M.H.D. Schoenaker et al.   European Journal of Medical Genetics

Penetrance ofATMGene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk

(2016) Monica Marabelli et al.   GENETIC EPIDEMIOLOGY

Ataxia telangiectasia: a review

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

Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort

(2016) Andreea Nissenkorn et al.   PEDIATRIC RESEARCH

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

(2015) P. J. Connelly et al.   DIABETIC MEDICINE

Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment

(2015) Martje E. van Egmond et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Incidence, Presentation, and Prognosis of Malignancies in Ataxia-Telangiectasia: A Report From the French National Registry of Primary Immune Deficiencies

(2015) Felipe Suarez et al.   JOURNAL OF CLINICAL ONCOLOGY

Ataxia-telangiectasia — A historical review and a proposal for a new designation: ATM syndrome

(2015) Hélio A.G. Teive et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

ATM functions at the peroxisome to induce pexophagy in response to ROS

(2015) Jiangwei Zhang et al.   NATURE CELL BIOLOGY

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Radiological Imaging in Ataxia Telangiectasia: a Review

(2014) Ishani Sahama et al.   CEREBELLUM

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

(2014) Payam Mohammadinejad et al.   JOURNAL OF IMMUNOASSAY & IMMUNOCHEMISTRY

Healing of Granulomatous Skin Changes in Ataxia-Telangiectasia After Treatment with Intravenous Immunoglobulin and Topical Mometasone 0.1% Ointment

(2014) Emily D. Privette et al.   PEDIATRIC DERMATOLOGY

ATM specifically mediates repair of double-strand breaks with blocked DNA ends

(2014) Alejandro Álvarez-Quilón et al.   Nature Communications

Skin Manifestations of Primary Immune Deficiency

(2013) Heather Lehman   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity

(2013) Gertjan J. Driessen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Disorders of Upper Limb Movements in Ataxia-Telangiectasia

(2013) Aasef G. Shaikh et al.   PLoS One

Long-term survival after allogeneic-matched sibling PBSC transplantation with conditioning consisting of low-dose busilvex and fludarabine in a 3-year-old boy with ataxia-telangiectasia syndrome and ALL

(2012) M Ussowicz et al.   BONE MARROW TRANSPLANTATION

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

(2012) J. Pietzner et al.   HUMAN MOLECULAR GENETICS

Movement Disorder in Ataxia-Telangiectasia

(2012) Andreea Nissenkorn et al.   JOURNAL OF CHILD NEUROLOGY

Ataxia Telangiectasia Mutated Kinase Controls Chronic Gammaherpesvirus Infection

(2012) J. M. Kulinski et al.   JOURNAL OF VIROLOGY

Neurodegeneration in Ataxia Telangiectasia: What Is New? What Is Evident?

(2012) Franziska Hoche et al.   NEUROPEDIATRICS

Mitochondrial dysfunction in ataxia-telangiectasia

(2011) Y. A. Valentin-Vega et al.   BLOOD

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours

(2011) A Reiman et al.   BRITISH JOURNAL OF CANCER

Cutaneous Granulomas in Ataxia Telangiectasia and Other Primary Immunodeficiencies: Reflection of Inappropriate Immune Regulation?

(2011) L.Y.T. Chiam et al.   DERMATOLOGY

Cytoplasmic ATM protein kinase: an emerging therapeutic target for diabetes, cancer and neuronal degeneration

(2011) Da-Qing Yang et al.   DRUG DISCOVERY TODAY

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

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

Ataxia telangiectasia: a “disease model” to understand the cerebellar control of vestibular reflexes

(2011) Aasef G. Shaikh et al.   JOURNAL OF NEUROPHYSIOLOGY

Infliximab in the treatment of a child with cutaneous granulomas associated with ataxia telangiectasia

(2011) Angana Mitra et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

ATM controls meiotic double-strand-break formation

(2011) Julian Lange et al.   NATURE

The ATM protein kinase and cellular redox signaling: beyond the DNA damage response

(2011) Scott Ditch et al.   TRENDS IN BIOCHEMICAL SCIENCES

Loss of ATM positively regulates the expression of hypoxia inducible factor 1 (HIF-1) through oxidative stress: Role in the physiopathology of the disease

(2010) Marielle Ousset et al.   CELL CYCLE

Past, Present and Future Therapeutics for Cerebellar Ataxias

(2010) D. Marmolino et al.   Current Neuropharmacology

The influence of heterochromatin on DNA double strand break repair: Getting the strong, silent type to relax

(2010) Aaron A. Goodarzi et al.   DNA REPAIR

Requirement of the ATM/p53 Tumor Suppressor Pathway for Glucose Homeostasis

(2010) H. L. Armata et al.   MOLECULAR AND CELLULAR BIOLOGY

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

(2010) Kaixin Zhou et al.   NATURE GENETICS

Evaluation and management of pulmonary disease in ataxia-telangiectasia

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

ATM Activation by Oxidative Stress

(2010) Z. Guo et al.   SCIENCE

CD19, a Response Regulator of B Lymphocytes, Regulates Wound Healing through Hyaluronan-Induced TLR4 Signaling

(2009) Yohei Iwata et al.   AMERICAN JOURNAL OF PATHOLOGY

Ataxia-telangiectasia patients presenting with hyper-IgM syndrome

(2009) J G Noordzij et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Deficiency in activation-induced cytidine deaminase promotes systemic autoimmunity inlprmice on a C57BL/6 background

(2009) L. Chen et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Gaze fixation deficits and their implication in ataxia-telangiectasia

(2009) A G Shaikh et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Steroid-induced improvement of neurological signs in ataxia-telangiectasia patients

(2008) T. Broccoletti et al.   EUROPEAN JOURNAL OF NEUROLOGY

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

(2008) Martin F. Lavin   NATURE REVIEWS MOLECULAR CELL BIOLOGY