Related references
Note: Only part of the references are listed.The Human Gene Mutation Database (HGMD(R)): optimizing its use in a clinical diagnostic or research setting
Peter D. Stenson et al.
HUMAN GENETICS (2020)
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants
Sumaiya Iqbal et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)
Functional classification of ATM variants in ataxia-telangiectasia patients
Alice Fievet et al.
HUMAN MUTATION (2019)
Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?
Sirawit Ittisoponpisan et al.
JOURNAL OF MOLECULAR BIOLOGY (2019)
Structural insights into the activation of ATM kinase
Jianxiong Xiao et al.
CELL RESEARCH (2019)
p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway
Claudia Contadini et al.
CELL DEATH & DISEASE (2019)
Predicting Splicing from Primary Sequence with Deep Learning
Kishore Jaganathan et al.
CELL (2019)
In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia
Michele Menotta et al.
MOLECULAR AND CELLULAR BIOCHEMISTRY (2018)
Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study
E. Cirillo et al.
EUROPEAN JOURNAL OF NEUROLOGY (2018)
Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone
Michele Menotta et al.
CELL BIOCHEMISTRY AND BIOPHYSICS (2017)
ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T
Michele Menotta et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Structures of closed and open conformations of dimeric human ATM
Domagoj Baretic et al.
SCIENCE ADVANCES (2017)
Dexamethasone improves redox state in ataxia telangiectasia cells by promoting an NRF2-mediated antioxidant response
Sara Biagiotti et al.
FEBS JOURNAL (2016)
Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer (vol 35, 135, 2016)
Andrea Prodosmo et al.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH (2016)
Ataxia telangiectasia: a review
Cynthia Rothblum-Oviatt et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
Peter D. Stenson et al.
HUMAN GENETICS (2014)
Forward subtractive libraries containing genes transactivated by dexamethasone in ataxia-telangiectasia lymphoblastoid cells
Sara Biagiotti et al.
MOLECULAR AND CELLULAR BIOCHEMISTRY (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial
Luciana Chessa et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Stain-Free technology as a normalization tool in Western blot analysis
Anne Guertler et al.
ANALYTICAL BIOCHEMISTRY (2013)
Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis
G. Giardino et al.
EUROPEAN JOURNAL OF NEUROLOGY (2013)
Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task
Mario Quarantelli et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2013)
The ATM protein kinase: regulating the cellular response to genotoxic stress, and more
Yosef Shiloh et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2013)
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia
Raffaella Zannolli et al.
MOVEMENT DISORDERS (2012)
Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia
T. Broccoletti et al.
EUROPEAN JOURNAL OF NEUROLOGY (2011)
In ataxia-teleangiectasia betamethasone response is inversely correlated to cerebellar atrophy and directly to antioxidative capacity
I. Russo et al.
EUROPEAN JOURNAL OF NEUROLOGY (2009)
Steroid-induced improvement of neurological signs in ataxia-telangiectasia patients
T. Broccoletti et al.
EUROPEAN JOURNAL OF NEUROLOGY (2008)
Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia
Sabrina Buoni et al.
ARCHIVES OF NEUROLOGY (2006)
Ataxia-telangiectasia, an evolving phenotype
HH Chun et al.
DNA REPAIR (2004)
PI 3-kinase related kinases: 'big' players in stress-induced signaling pathways
RT Abraham
DNA REPAIR (2004)
Nonclassical splicing mutations in the coding and noncoding regions of the ATM gene: Maximum entropy estimates of splice junction strengths
L Eng et al.
HUMAN MUTATION (2004)
Share Paper
