Ataxia telangiectasia: more variation at clinical and cellular levels

Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms

(2013) Joshua A. Regal et al.   HUMAN MOLECULAR GENETICS

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

The ATM protein kinase: regulating the cellular response to genotoxic stress and more

(2013) Yosef Shiloh et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia

(2013) Gemma Cummins et al.   PARKINSONISM & RELATED DISORDERS

The RAG2 C-terminus and ATM protect genome integrity by controlling antigen receptor gene cleavage

(2013) Julie Chaumeil et al.   Nature Communications

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

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

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites

(2012) R. Saunders-Pullman et al.   NEUROLOGY

Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia

(2011) P J Byrd et al.   BRITISH JOURNAL OF CANCER

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

Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia

(2011) S S Devgan et al.   CELL DEATH AND DIFFERENTIATION

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

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

Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly

(2011) Yoshiyuki Matsumoto et al.   DNA REPAIR

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

(2011) Mijke M. M. Verhagen et al.   HUMAN MUTATION

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

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

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

Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia

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

Ataxia telangiectasia: The consequences of a delayed diagnosis

(2011) Caroline M.P.W. Mandigers et al.   RADIOTHERAPY AND ONCOLOGY

Evaluation and management of pulmonary disease in ataxia-telangiectasia

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

The RIDDLE Syndrome Protein Mediates a Ubiquitin-Dependent Signaling Cascade at Sites of DNA Damage

(2009) Grant S. Stewart et al.   CELL

Update on the management of the immunodeficiency in ataxia-telangiectasia

(2009) E Graham Davies   Expert Review of Clinical Immunology

Modeling ATM mutant proteins from missense changes confirms retained kinase activity

(2009) Giancarlo Barone et al.   HUMAN MUTATION

Two Brothers with Ataxia-Telangiectasia-like Disorder with Lung Adenocarcinoma

(2009) Naoki Uchisaka et al.   JOURNAL OF PEDIATRICS

Clinical spectrum of ataxia-telangiectasia in adulthood

(2009) M.M.M. Verhagen et al.   NEUROLOGY

PathogenicATMmutations occur rarely in a subset of multiple myeloma patients

(2008) Belinda Austen et al.   BRITISH JOURNAL OF HAEMATOLOGY

Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia

(2008) Fatima Carrillo et al.   CEREBELLUM

Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene

(2008) E. R. Staples et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY