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

Aberrant V(D)J Recombination in Ataxia Telangiectasia Mutated-Deficient Lymphocytes Is Dependent on Nonhomologous DNA End Joining

(2014) A. L. Bredemeyer et al.   JOURNAL OF IMMUNOLOGY

ATM regulates a DNA damage response posttranscriptional RNA operon in lymphocytes

(2011) K. Mazan-Mamczarz et al.   BLOOD

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

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

Ataxia telangiectasia: The consequences of a delayed diagnosis

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

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia

(2010) Gabriella Silvestri et al.   JOURNAL OF NEUROLOGY

Ataxia-telangiectasia patients presenting with hyper-IgM syndrome

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

Modeling ATM mutant proteins from missense changes confirms retained kinase activity

(2009) Giancarlo Barone et al.   HUMAN MUTATION

Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan

(2009) Tomohiro Morio et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Nonaminoglycoside compounds induce readthrough of nonsense mutations

(2009) Liutao Du et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Clinical spectrum of ataxia-telangiectasia in adulthood

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

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

Attenuated presentation of ataxia-telangiectasia with familial cancer history

(2008) C. Simonin et al.   JOURNAL OF NEUROLOGY

Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation

(2008) M Gładkowska-Dura et al.   JOURNAL OF PATHOLOGY

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

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

Ataxia-Telangiectasia and mechanical ventilation: A word of caution

(2008) Mijke M.M. Verhagen et al.   PEDIATRIC PULMONOLOGY