Global Directory A-T Global Directory

Publications

Publications make scientific information publically available, and allow the rest of the academic audience to evaluate the quality of the research. The publications listed below are a collection of the outcomes of various research studies relating to Ataxia Telangiectasia over the past 20 years. For an upto date and comprehensive list of all A-T related publications, please vist sites such as pubmed, Google Scholar or The National Library of Medicine.

The table below is categorised using the UK Clinical Research Collaboration Health Research Classification System to assist with the classification and analysis of all types of health research. The categories used to label each study/publication are:

1. Underpinning Research - Developing new tools and techniques for conducting research
2. Aetiology - Understanding the causes of A-T
3. Prevention of Disease and Conditions, and Promotion of Well-Being - Studies to identify new treatments for A-T
4. Detection, Screening and Diagnosis - Tests for diagnosing and monitoring patients with A-T
5. Development of Treatments and Therapeutic Interventions - Creating drugs and therapies to alleviate the symptoms of A-T
6. Evaluation of Treatments and Therapeutic Interventions - Studies to prove how new treatments work and understand how to use them
7. Management of Diseases and Conditions - Managing the symptoms of A-T
8. Health and Social Care Services Research - Evaluating the services provided to A-T patients and cost effectiveness of treatments

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Research Project Published Institute Principal Investigator Country Cat
Atm expression patterns suggest a contribution from the peripheral nervous system to the phenotype of A-T 1998 Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis H.D. Soares usa 2
ATM germline mutations in classical A-T patients in the Dutch population 1998 Department of Experimental Therapy, The Netherlands Cancer Institute, Amsterdam Annegien Broeks netherlands 4
A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with A-T 1998 Department of Pathology, UCLA School of Medicine, Los Angeles M. Telatar usa 4
A-T: identification and detection of founder-effect mutations in the ATM gene in ethnic populations 1998 Department of Pathology, UCLA School of Medicine, Los Angeles M. Telatar usa 4
Treatment of lymphoid malignancies in patients with A-T 1998 Department of Pediatrics and Institute for the Genetic Analysis of Common Diseases, New York Medical College Claudio Sandoval usa 7
Consequences of the delayed diagnosis of A-T 1998 University of California, San Francisco Michael Cabana usa 8
Changes of chromatin condensation in one patient with A-T disorder: a structural study 1999 University of Genova Laura Vergani italy 1
Physical map of the region surrounding the A-T gene on human chromosome 11q22-23 1999 Jules Stein Eye Institute, UCLA School of Medicine, Los Angele N S Udar usa 1
Neurodegeneration in A-T is caused by horror autotoxicus 1999 Department of Neurology, University of Miami, Rodrigo Kuljis usa 2
Absence of mutations in ATM, the gene responsible for A-T in patients with cerebellar ataxia 1999 Department of Neurology, Chaim Sheba Medical Center, Tel-Hashomer Sharon Hassin-Baer israel 2
Loss of the A-T gene product causes oxidative damage in target organs 1999 Laboratory of Genetic Disease Research, National Human Genome Research Institute, Bethesda C. Barlow usa 2
Oligo-/monoclonal gammopathy and hypergammaglobulinemia in A-T. A study of 90 patients 1999 Mayo Clinic Hospital, Rochester Amir Sadighi Akha usa 4
A mark on the arm: myths of carrier status in sibs of individuals with A-T 1999 Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Joanna H. Fanos usa 4
ATM mutations in patients with A-T screened by a hierarchical strategy 1999 Division of Genome Analysis, Institute of Genetic Information, Kyushu University, Fukuoka Tomonari Sasaki japan 4
A-T in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations 1999 Department of Pediatrics, Gifu University School of Medicine, Gifu Toshiyuki Fukao japan 4
Oropharyngeal dysphagia and aspiration in patients with A-T 2000 Johns Hopkins University School of Medicine, Baltimore Maureen Lefton-Greif usa 4
Characterization of ATM mutations in 41 Nordic families with A-T 2000 Department of Genetics, Norwegian Radium Hospital, Oslo Knute Laake norway 4
Mutations at the A-T locus and clinical phenotypes of A-T patients 2000 Institute for the Genetic Analysis of Common Diseases, New York Medical College Airong Li usa 4
Increased oxidative stress in A-T evidenced by alterations in redox state of brains from Atm-deficient mice 2001 Department of Psychology, Haifa University, Haifa Ariel Kamsler israel 2
Cancer risk in heterozygotes for A-T 2001 INSERM, Institut Gustave Roussy, Cedex Beatrice Geoffroy-Perez france 4
Cancer in patients with A-T and in their relatives in the nordic countries 2001 N/A Jørgen Helge Olsen denmark 4
Radiosensitivity of A-T and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting 2002 Clinic of Radiotherapy, University Erlangen-Nürnberg Susann Neubauer germany 1
Deficiencies in CD4+ and CD8+ T cell subsets in A-T 2002 University of California, San Diego, School of Medicine Robert Schubert usa 2
Effect of vitamin E (DL-alpha-tocopherol) on the frequency of chromosomal damage in lymphocytes from patients with A-T 2002 Human Genetics Program, ICBM, Faculty of Medicine-University of Chile Katherine Marcelain chile 3
Early diagnosis of A-T using radiosensitivity testing 2002 Departments of Pathology and Pediatrics, University of California-Los Angeles School of Medicine, Los Angeles, Californi Xii Sun usa 4
Pregnancy after preimplantation genetic diagnosis for A-T 2002 King Faisal Specialist Hospital and Research Centre, Department of Pathology and Laboratory Medicine, ART Section Ali Hellani saudi-arabia 4
The inhibition of poly(ADP-ribose) polymerase enhances growth rates of A-T cells 2002 Webb Waring Institute for Cancer, Aging and Antioxidant Research, University of Colorado Health Sciences Center John Marecki usa 5
Hodgkin's disease and A-T with pulmonary cavities 2002 Department of Pediatric Oncology, Institute of Oncology, Hacettepe University, Ankara Bilgehan Yalçin turkey 7
Epstein-Barr virus-associated smooth muscle tumors in A-T: a case report and review 2002 Department of Pathology, Allergy and Immunology, Texas Children’s Hospital, Baylor College of Medicine Christine Reyes usa 7
ATP activates A-T mutated (ATM) in vitro. Importance of autophosphorylation 2003 The Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane (Australia) Sergei Kozlov australia 2
Relationship between A-T mutant(ATM) expression of HL-60 and SiHA cell lines and their cell cycle arrest after 60Co radiation 2003 Department of Hematology, Tongji Hospital Yi Tang china 2
A-T: the pattern of cerebellar atrophy on MRI 2003 Department of Radiology, University of Modena, Italy Federica Tavani italy 2
Low thymic output and reduced heterogeneity of alpha/beta, but not gamma/delta, T lymphocytes in infants with A-T 2003 Pediatric Neuropsychiatry, Spedali Civili (Public Hospital) of Brescia, Italy Roberto Micheli italy 2
Desferrioxamine treatment increases the genomic stability of A-T cells 2003 Osteopathic Medical Center, Des Moines University, Des Monies Rodney Shackelford usa 3
METHOD OF ANALYZING A-T PROTEIN 2003 David Geffen School of Medicine, University of California-Los Angeles Richard Gatti usa 4
Improved diagnostic testing for A-T by immunoblotting of nuclear lysates for ATM protein expression 2003 David Geffen School of Medicine, University of California-Los Angeles Helen Chun usa 4
Predisposition to breast cancer by mutations at the A-T genetic locus 2003 N/A Michael Swift usa 4
Hodgkin disease in A-T patients with poor outcomes 2003 Department of Pediatrics, New York Medical College Claudio Sandoval usa 8
In search of drug treatment for genetic defects in the DNA damage response: the example of A-T 2004 Department of Human Genetics and Molecular Medicine Yosef Shiloh israel 1
Antioxidant enzymes in red blood cells and lymphocytes of A-T patients 2004 Department of Biochemistry, Hacettepe University Faculty of Medicine, Ankara Yasemin Aksoy turkey 2
Progressive sensorimotor impairment is not associated with reduced dopamine and high energy phosphate donors in a model of A-T 2004 Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Ontario Howard Mount canada 3
Treatment with a catalytic antioxidant corrects the neurobehavioral defect in A-T mice 2004 Department of Neurology and Neuroscience, Weill Medical College, Cornell University, New York Susan Browne usa 3
Identification of two mutations for A-T among the Druze community 2004 Department of Biochemistry and Molecular Genetics, Carmel Medical Centre, Haifa Fuad, Fares israel 4
ATM Gene Mutations Detection in Iranian A-T Patients 2004 National Research Center for Genetic Engineering and Biotechnology, Tehran Mohammad-Hossein Sanati iran 4
Immunoassay to measure A-T mutated protein in cellular lysates 2004 David Geffen School of Medicine, University of California-Los Angeles, Los Angeles Anthony Butch usa 4
Slow progression of A-T with double missense and in frame splice mutations 2004 Medical School, Hannover Thilo Dork germany 4
Molecular cytogenetic parameters in fibroblasts of A-T carrier 2004 Genetic Institute, Meir Hospital, Kfar Saba,, and Bar-Ilan University, A. Amiel israel 4
Elevated oxidative stress in patients with A-T 2004 Department of Pediatrics, Johann-Wolfgang Goethe Universität Frankfurt, Frankfurt Janine Reichenbach germany 5
Immunodeficiency and infections in A-T 2004 John Hopkins University School of Medicine, Baltimore Anna Nowak-Wegrzyn usa 7
Loss of neuronal cell cycle control in A-T: a unified disease mechanism 2005 Departments of Neurology and Neurosciences, Alzheimer Research Laboratory, Case School of Medicine, Ohi Yan Yang usa 2
Impaired genomic stability and increased oxidative stress exacerbate different features of A-T 2005 Department of Neurobiochemistry, George S. Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv Shelly Ziv israel 2
Methods for detection of A-T mutations 2005 David Geffen School of Medicine, University of California-Los Angeles Richard Gatti usa 4
Rapid molecular diagnosis of A-T by optimised RT-PCR and direct sequencing analysis 2005 Immunology, University Hospital of La Princesa, Madrid Esther Mancebo spain 4
ATM gene founder haplotypes and associated mutations in Polish families with A-T 2005 Department of Pathology and Laboratory Medicine, The David Geffen School of Medicine at University of California-Los An Richard Gatti usa 4
Variability of immunodeficiency associated with A-T and clinical evolution in 12 affected patients 2005 Allergy and Clinical Immunology Section, Paediatrics Department, Integrated Unit Sant Joan de Déu – Clínic, Hospital Uni G. Claret Teruel spain 4
Quantitative evaluation of brain involvement in A-T by diffusion weighted MR imaging 2005 Inonu University Medical Faculty, Turgut Ozal Medical Center, Department of Radiology, Malatya Ahmet Kemal Firat turkey 4
Cancer risk according to type and location of ATM mutation in A-T families 2005 Institute Curie, Biostatistics Department, Paris E. Cavacitui france 4
Pneumococcal conjugate vaccine followed by pneumococcal polysaccharide vaccine; immunogenicity in patients with A-T 2005 Department of Medical Genetics, Rikshospitalet University Hospital Asbjorg Stray-Pedersen norway 7
Interstitial lung disease in patients with A-T 2005 Department of Pediatrics, Winthrop-University Hospital, Mineola, New York Scott A. Schroeder usa 7
Altered centrosomes in A-T cells and rapamycin-treated Chinese hamster cells 2005 CNR Institute of Clinical Physiology, Pisa, Italy Institute for Cancer Research, Genova, Italy Stefania Bonatti italy 7
A developmental role for A-T mutated in protecting the embryo from spontaneous and phenytoin-enhanced embryopathies in culture 2006 Faculty of Pharmacy, University of Toronto, Toronot Yadvinder Bhuller canada 2
DHPLC screening of ATM gene in Italian patients affected by A-T: fourteen novel ATM mutations 2006 IRCCS-CSS Mendel Institute, Rome Monia Magliozzi italy 4
Exclusion/confirmation of A-T via cell-cycle testing 2006 Department of Human Genetics, University of Würzburg, Würzburg Tilman Heinrich germany 4
Betamethasone and improvement of neurological symptoms in A-T 2006 Department of Pediatrics, Policlinico Le Scotte, University of Siena, Siena Raffaella Zannolli italy 7
Response to polysaccharide antigens in patients with A-T 2006 Federal University of São Paulo (UNIFESP), São Paulo Maria Guerra-Maranhão brazil 7
Characterization of the porcine ATM gene: towards the generation of a novel non-murine animal model for A-T 2007 Department of Animal Sciences, University of Illinois Margarita Rogatcheva usa 1
Control of cell respiration by nitric oxide in A-T lymphoblastoid cells 2007 Department of Biochemical Sciences, Sapienza University of Rome, Rome Alessandra Masci italy 1
Proton spectroscopy and imaging at 3T in A-T 2007 Academic Unit of Radiology, The University of Sheffield, Sheffield LI, Wallis uk 4
Ocular findings in Norwegian patients with A-T: a 5 year prospective cohort study 2007 Department of Medical Genetics, Rikshospitalet University Hospital, Oslo Ruth Riise norway 4
Use of D11S2179 and D11S1343 as markers for prenatal diagnosis of A-T in Iranian patients 2007 Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran Behnaz Bayat iran 4
Rapid molecular prenatal diagnosis of A-T by direct mutational analysis 2007 Department of Inmunology, University Hospital of October 12th, Madrid Esther Mancebo spain 4
Inhibition of A-T-p53-E2F-1 pathway in neurons as a target for the prevention of neuronal apoptosis 2007 University of Barcelona, Barcelona Antoni Camins spain 7
L-carnitine enhances resistance to oxidative stress by reducing DNA damage in A-T cells 2007 Department of Agrobiology and Agrochemistry, University of Tuscia, Andrea Berni italy 7
Polysomnographic values in adolescents with A-T 2008 Division of Pediatric Pulmonology, Department of Pediatrics, The Johns Hopkins Medical Institution, Baltimore Sharon McGrath-Morrow usa 1
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of A-T 2008 Department of Clinical and Biological Sciences, University of Turin Paola Porcedda italy 4
Rapid diagnosis of A-T by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation 2008 Department of Pediatrics and Developmental Biology, Graduate School of Medicine, Tokyo Medical and Dental University M. Honda japan 4
Pulmonary function in adolescents with A-T 2008 Division of Pediatric Pulmonology, Department of Pediatrics, The Johns Hopkins Medical Institution, Baltimore Sharon McGrath-Morrow usa 4
Steroid-induced improvement of neurological signs in A-T patients 2008 Department of Pediatrics, Federico II University, Naples Claudio Pignata italy 6
Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the A-T brain 2009 National Research Center of Mental Health, Russian Academy of Medical Sciences, Moscow Ivan Y Iourov russia 2
Radioprotective effects of manganese-containing superoxide dismutase mimics on A-T cells 2009 Department of Radiation Physics, University of Texas MD Anderson Cancer Center, Houston Julianne M Pollard usa 3
Neurodegeneration mediated by chromosome instability suggests changes in strategy for therapy development in A-T 2009 N/A Yurov YB russia 3
Two-tier analysis of histone H2AX phosphorylation allows the identification of A-T heterozygotes 2009 Department of Clinical and Biological Sciences, University of Turin Paola Porcedda italy 4
Rapid assay for detecting A-T homozygotes heterozygotes 2009 David Geffen School of Medicine, University of California-Los Angeles Richard Gatti usa 4
Clinical spectrum of A-T in adulthood 2009 Department of Pediatric Neurology, Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition an M M Verhagen netherlands 4
BAK, BAX, and NBK/BIK proapoptotic gene alterations in Iranian patients with A-T 2009 National Institute of Genetic Engineering and Biotechnology, Tehran Anna Isaian israel 4
Extracerebellar MRI-lesions in A-T go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age 2010 Department of Pediatrics, Goethe University Frankfurt Matthias Kieslich germany 2
Elevated serum IL-8 levels in A-T 2010 Division of Pediatric Pulmonology, Department of Pediatrics, The Johns Hopkins Medical Institution, Baltimore Sharon McGrath-Morrow usa 4
Efficacy of very-low-dose betamethasone on neurological symptoms in A-T 2010 Department of Pediatrics, Federico II University, Naples T Broccoletti italy 5
Reversible airway obstruction in children with A-T 2010 A-T National Clinic, Chaim Sheba Medical Center, Tel Hashomer, affiliated with the Sackler Medical School, Tel-Aviv Univ Yackov Berkun israel 7
Evaluation and management of pulmonary disease in A-T 2010 Division of Pediatric Pulmonary, Department of Pediatrics, The Johns Hopkins Medical Institutions, Baltimore, Maryland Sharon A McGrath-Morrow usa 7
Premature ageing of the immune system underlies immunodeficiency in A-T 2011 Immunology Laboratory, Department of Pathology, Papworth Hospital NHS Foundation Trust, Cambridge University Health Part Andrew Robert Exley uk 2
Neurologic presentation in children with A-T: is small head circumference a hallmark of the disease? 2011 National A-T Clinic, Edmond and Lilly Safra Children’s Hospital, Sheba Medical Center, Ramat Gan Andreea Nissenkorn israel 2
Heterotopic Purkinje cells in A-T 2011 Departments of Pathology & Laboratory Medicine Neurology, UCLA Medical Center and David Geffen School of Medicine at UCL Alexander R Bottini usa 2
ATM and the molecular pathogenesis of A-T 2011 Department of Genetics and Tumor Cell Biology, St Jude Children's Research Hospital, 332 N.Lauderdale, Memphis, Tennesse Peter J McKinnon usa 2
Stable brain ATM message and residual kinase-active ATM protein in A-T 2011 Department of Cell Biology and Neuroscience, Nelson Biological Laboratories, Rutgers University, Piscataway, New Jersey Jiali Li usa 2
Underexpression and abnormal localization of ATM products in A-T patients bearing ATM missense mutations 2011 Curie Institute, Centre of Research, Paris Virginie Jacquemin france 2
Aberrant CD8+ T-cell responses and memory differentiation upon viral infection of an A-T mouse model driven by hyper-activated Akt and mTORC1 signaling 2011 Department of Pathology, Yale University School of Medicine, New Haven, Connecticut Anthony D D'Souza usa 3
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with A-T 2011 Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles Kotoka Nakamura usa 3
Cognitive and speech-language performance in children with A-T 2011 Department of Medical Psychology, The University of Nijmegen Anja Vinck netherlands 4
Morbidity and mortality from A-T are associated with ATM genotype 2011 Pediatric Immunohematology Department, Hôpital Necker-Enfants Malades, Paris, Romain Micol france 4
Proteomic Characterization of Cerebrospinal Fluid from A-T (A-T) Patients Using a LC/MS-Based Label-Free Protein Quantification Technology 2011 Department Biochemistry and Molecular Biology, Indiana University School of Medicine Monika Dzieciatkowska usa 4
Characterisation of ATM mutations in Slavic A-T patients 2011 Department of Biochemistry and Experimental Oncology, 1st Faculty of Medicine, Charles University, U Nemocnice Jana Soukupova czech-republic 4
Safety and caregiver satisfaction with gastrostomy in patients with A-T 2011 The A-T Clinical Center, Johns Hopkins Medical Institutions, Baltimore, Maryland Maureen A Lefton-Greif usa 8
Induced pluripotent stem cells from A-T recapitulate the cellular phenotype 2012 Australian Institute for Bioengineering and Nanotechnology, University of Queensland, Brisbane, Queensland, Department o Sam Nayler australia 1
Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in A-T 2012 Department of Cell Biology and Neuroscience Nelson Biological Laboratories Rutgers University, New Jersey Jiali Li usa 2
The role of the neuro-astro-vascular unit in the etiology of A-T 2012 Department of Neurobiology, Faculty of Life Sciences, Tel Aviv University Ramat Aviv, Tel Aviv Leenoy Meshulam israel 2
ISG15 deregulates autophagy in genotoxin-treated A-T cells 2012 Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center School of Medicine, Shyamal D Desai usa 2
Reducing mitochondrial ROS improves disease-related pathology in a mouse model of A-T 2012 Department of Pathology, Yale University School of Medicine Anthony D D'Souza usa 3
Dexamethasone partially rescues A-T-mutated (ATM) deficiency in A-T by promoting a shortened protein variant retaining kinase activity 2012 Department of Biomolecular Sciences, University of Urbino Michele Menotta italy 3
Disease severity in a mouse model of A-T is modulated by the DNA damage checkpoint gene Hus1 2012 Department of Biomedical Sciences, Cornell University, Ithaca, New York Gabriel Balmus usa 4
Newborn screening for SCID identifies patients with A-T 2012 Department of Pediatrics, University of California San Francisco Jacob Mallott usa 4
Betamethasone therapy in A-T: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis 2012 University of Naples Federico II Giuliana Giardino italy 5
Movement disorder in A-T: treatment with amantadine sulfate 2012 Pediatric Neurology Unit, Edmond and Lilly Safra Children's Hospital, The Chaim Sheba Medical Center, Tel Hashomer Andreea Nissenkorn israel 6
Steroid treatment in A-T induces alterations of functional magnetic resonance imaging during prono-supination task 2012 Biostructure and Bioimaging Institute, National Research Council, Naples Mario Quarantelli italy 6
A randomized trial of oral betamethasone to reduce ataxia symptoms in A-T 2012 Child Neurology and Psychiatry Unit, University of Siena, Policlinico Le Scotte, Siena Raffaella Zannolli italy 6
A patient-derived olfactory stem cell disease model for A-T 2013 Queensland Institute of Medical Research, Brisbane, Queensland Romal Stewart australia 1
SMRT compounds abrogate cellular phenotypes of A-T in neural derivatives of patient-specific hiPSCs 2013 Eli and Edythe Broad Center for Regenerative Medicine, UCLA, Los Angeles Peiyee Lee usa 1
Variant A-T: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives 2013 Center for Medical Genetics, Ghent University Hospital, De Pintelaan Kathleen Claes belgium 1
Chromosome instability and oxidative stress markers in patients with A-T and their parents 2013 Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre Luciane Bitelo Ludwig brazil 1
The innate immune response transcription factor relish is necessary for neurodegeneration in a Drosophila model of A-T 2013 Molecular and Cellular Pharmacology Program, University of Wisconsin School of Medicine and Public Health, Madison Andrew J Petersen usa 2
Antibody deficiency in patients with A-T is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity 2013 Department of Pediatric Infectious Disease and Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam Gertjan J Driessen netherlands 2
EZH2-mediated H3K27 trimethylation mediates neurodegeneration in A-T 2013 Kunming Institute of Zoology Chinese Academy of Sciences Jiali Li china 2
Intrinsic mitochondrial DNA repair defects in A-T 2013 Dr D Y Patil Biotechnology and Bioinformatics Institute Nilesh Kumar Sharma india 2
Diagnostics of A-T by the express-test found on the method of indirect immunofluorescence 2013 Institute of Cytology Russian Academy of Sciences, St. Petersburg M L Kuranova russia 4
Dermatologic manifestations of A-T syndrome 2013 Department of Dematology Sheba Medical Centre, Ramat Gan Shoshana Greenberger israel 4
p53 centrosomal localization diagnoses A-T homozygotes and heterozygotes 2013 Department of Experimental Oncology, Regina Elena National Cancer Institute, Rome Andrea Prodosmo italy 4
Pilot study of modified LMB-based therapy for children with A-T and advanced stage high grade mature B-cell malignancies 2013 Departments of Oncology, St. Jude Children's Research Hospital Memphis J T Sandlund usa 6
Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with A-T 2013 Department of Pediatrics, School of Medicine, Federal University of Sao Paulo (UNIFESP) Erika Félix brazil 6
Infections of the respiratory system in patients with A-T 2013 Division of Pulmonary Medicine and Allergy, Department of Pediatrics, The Floating Hospital, Tufts Medical Center, Washi Scott A Schroeder usa 7
Pulmonary function in children and young adults with A-T 2013 Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University School of Medicine Sharon A McGrath-Morrow usa 7
Non invasive assessment of lung disease in A-T by high-field magnetic resonance imaging 2013 Department of Pediatrics, Federico II University, Naples Silvia Montella italy 7
Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in A-T 2013 Department of Neurology, Emory University School of Medicine, Wesley Woods Health Center, Atlanta Aasef G Shaikh usa 7
Glutamine deprivation induces interleukin-8 expression in A-T fibroblasts 2014 Department of Food and Nutrition, Brain Korea 21 PLUS Project, College of Human Ecology, Yonsei University, Seoul Min-Hyun Kim south-korea 1
Forward subtractive libraries containing genes transactivated by dexamethasone in A-T lymphoblastoid cells 2014 Department of Biomolecular Sciences, University of Urbino Sara Biagiotti italy 1
The pleiotropic movement disorders phenotype of adult A-T 2014 Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, Paris Aurélie Méneret france 4
NADPH oxidase 4 is a critical mediator in A-T disease 2015 Laboratory of Molecular Pharmacology, National Cancer Institute, National Institutes of Health, Bethesda Urbain Weyemi usa 1
A novel mouse model for A-T with a N-terminal mutation displays a behavioral defect and a low incidence of lymphoma but no increased oxidative burden 2015 Department of Biomedical Genetics, University of Rochester Andrew Campbell usa 1
A novel porcine model of A-T reproduces neurological features and motor deficits of human disease 2015 Children's Health Research Center, Sanford Research Rosanna Beraldi usa 1
Development of global rating instruments for pediatric patients with A-T 2015 Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, Ramat Gan Andreea Nissenkorn israel 1
Positive effect of erythrocyte-delivered dexamethasone in A-T 2015 Sapienza University of Rome, Rome Vincenzo Leuzzi italy 6
FVC deterioration, airway obstruction determination, and life span in A-T 2015 The Pediatric Pulmonary Unit and the A-T National Clinic, The Edmond and Lily Safra Children's Hospital, Sheba Medical C Daphna Vilozni israel 7
Nutritional status of patients with A-T: A case for early and ongoing nutrition support and intervention 2015 Department of Nutrition and Dietetics, The Royal Brisbane & Women's Hospital, Brisbane, Queensland Lynda J Ross australia 8
Robust reprogramming of A-T patient and carrier erythroid cells to induced pluripotent stem cells 2016 Department of Radiation Oncology and Molecular Radiation Sciences, and the Sidney Kimmel Comprehensive Cancer Center, Jo Niraj Bhatt usa 1
Molecular and Functional Characterization of a Cohort of Spanish Patients with A-T 2016 Universidad de Granada Diana Carranza Dominguez spain 1
NAD+ Replenishment Improves Lifespan and Healthspan in A-T Models via Mitophagy and DNA Repair 2016 Laboratory of Molecular Gerontology, National Institute on Aging, NIH, Baltimore Evandro Fei Fang usa 1
A rat model of A-T: evidence for a neurodegenerative phenotype 2016 QIMR Berghofer Medical Research Institute, Herston Hazel Quek australia 1
The impact of glutamine supplementation on the symptoms of A-T: a preclinical assessment 2016 Rugers University, New Jersey Jianmin Chen usa 3
Longitudinal analysis of the neurological features of A-T 2016 Imperial College Healthcare NHS Trust Thomas Jackson uk 4
Assessment of impaired coordination between respiration and deglutition in children and young adults with A-T 2016 The A-T Clinical Center, Johns Hopkins Medical Institutions, Baltimore Maureen A Lefton-Greif usa 4
Dexamethasone improves redox state in A-T cells by promoting an NRF2-mediated antioxidant response 2016 Department of Biomolecular Sciences, University of Urbino Sara Biagiotti italy 5
Growth and nutrition in children with A-T 2016 Nottingham Children's Hospital, National Paediatric A-T Clinic, Nottingham, Emma Stewart uk 7
Endocrine abnormalities in A-T: findings from a national cohort 2016 The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv Andreea Nissenkorn israel 7
Audiological findings in children with A-T (A-T) syndrome 2016 Lecturer of Audiology, Otorhinolaryngology Department, Ain Shams University, Cairo Pretty O Afifi egypt 7
A-T: presentation and diagnostic delay 2016 Nottingham Children's Hospital, National Paediatric A-T Clinic, Nottingham Rebecca Devaney uk 8
A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in A-T 2017 University of Queensland Centre for Clinical Research, Brisbane Romal Stewart australia 1
Assaying Radiosensitivity of A-T 2017 Department of Pathology, Duke University School of Medicine, Durham Hailiang Hu usa 1
Genetic A-T porcine model phenocopies the multisystemic features of the human disease 2017 Pediatric and Rare Diseases Group Sanford Research, Sioux Falls Rosanna Beraldi usa 1
Human iPSC-Derived Cerebellar Neurons from a Patient with A-T Reveal Disrupted Gene Regulatory Networks 2017 Australian Institute for Bioengineering and Nanotechnology, University of Queensland Sam P Nayler australia 2
A-T: Immunodeficiency and survival 2017 Department of Neurology - Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nienke J H van Os netherlands 4
A-T in Turkey: multisystem involvement of 91 patients 2017 Department of Pediatric Infectious Diseases and Clinical Immunology, Istanbul Medical Faculty, Istanbul University Hacer Akturk turkey 4
The clinical significance of complete class switching defect in A-T patients 2017 Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center , Tehran University o Saleh Ghiasy iran 4
Telomere length, ATM mutation status and cancer risk in A-T families 2017 INSERM, Paris Anne-Laure Renault france 4
Is age a risk factor for liver disease and metabolic alterations in A-T patients? 2017 Department of Pediatrics, Escola Paulista de Medicina, Federal University of São Paulo Talita Lemos Paulino brazil 4
Long-term nutritional and gastrointestinal aspects in patients with A-T 2017 Department of Pediatrics, and Immunology, The Edmond and Lily Safra Children's Faculty of Hospital, Chaim Sheba Medical Alexander Krauthammer israel 4
Two Novel Mutations Associated With A-T Identified Using an Ion AmpliSeq Inherited Disease Panel 2017 Research Center for Obstetrics, Gynecology and Perinatology, Moscow Maria V Kuznetsova russia 4
Comparison of Selected Parameters of Redox Homeostasis in Patients with A-T and Nijmegen Breakage Syndrome 2017 Clinical Immunology, The Children's Memorial Health Institute, Warsaw Barbara Pietrucha poland 4
Type I IFN-related NETosis in A-T and Artemis deficiency 2017 Department of Biological Sciences, Middle East Technical University, Ankara Ersin Gul turkey 5
In vivo effects of dexamethasone on blood gene expression in A-T 2017 Department of Biomolecular Sciences, University of Urbino Michele Menotta italy 6
Growth hormone treatment in patients with A-T 2017 Division for Allergy, Pneumology and Cystic Fibrosis, Department for Children and Adolescents , Goethe University Sandra Woelke germany 6
Neurovisual Assessment in Children with A-T 2017 Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Brescia Alessandro Iodice italy 7
A-T and Cancer Predisposition: Challenges in Management 2017 Department of Oncology, St. Jude Children's Research Hospital, Memphis Santhosh A Upadhyaya usa 8
Atm reactivation reverses A-T phenotypes in vivo 2018 Department of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University, Rome Sara Di Siena italy 1
A-T mutated kinase deficiency impairs the autophagic response early during myocardial infarction 2018 Department of Biomedical Sciences, James H Quillen College of Medicine, East Tennessee State University, Johnson City, T Krishna Singh usa 1
A-T mutated kinase is an autophagic balancer at the onset of heart failure 2018 Department of Molecular, Cellular and Biomedical Sciences, City University of New York School of Medicine Jun Yoshioka usa 1
Modulation of chromatin conformation by the histone deacetylase inhibitor trichostatin A promotes the removal of radiation-induced lesions in A-T cell lines 2018 Department of Ecological and Biological Sciences (DEB), University of Tuscia Roberta Meschini italy 1
Reconstitution of the A-T Cellular Phenotype With Lentiviral Vectors 2018 Institute of Biopathology and Regenerative Medicine, Center for Biomedical Research, University of Granada Ignacio J Molina spain 1
B-cell subsets imbalance and reduced expression of CD40 in A-T patients 2018 Department of Pediatrics, Federal University of Sao Paulo Medical School B T Costa-Carvalho brazil 2
Inflammation and transcriptional responses of peripheral blood mononuclear cells in classic A-T 2018 Johns Hopkins, Baltimore, Maryland Howard M Lederman usa 2
Allogeneic Stem Cell Transplantation after Fanconi Anemia Conditioning in Children with A-T Results in Stable T Cell Engraftment and Lack of Infections despite Mixed Chimerism 2018 Department of Pediatric Bone Marrow Transplantation, Oncology, and Hematology, Wroclaw Medical University Krzysztof Ka?wak poland 3
Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in A-T 2018 Division for Stem Cell Transplantation and Immunology, Children's Hospital, Goethe-Universität Frankfurt am Main Peter Bader germany 3
A-T: A new remitting form with a peculiar transcriptome signature 2018 Department of Pediatrics, Child Neurology and Psychiatry (V.L., D.D.A., C.C.), and Faculty of Medicine and Psychology (L Vincenzo Leuzzi italy 4
A novel variant in ATM gene causes A-T revealed by whole-exome sequencing 2018 Department of Pediatrics, Prince Sultan Military Medical City Sarar Mohamed saudi-arabia 4
DNA damage and repair in individuals with A-T and their parents 2018 Medical Genetics Service, Hospital de Clínicas de Porto Alegre and Universidade Federal de Santa Catarina Sharbel Weidner Maluf brazil 4
Elevated IgM levels as a marker for a unique phenotype in patients with A-T 2018 The Edmond and Lily Safra Children's Hospital Itai M Pessach israel 4
Retroperitoneal extramedullary hematopoietic pseudotumor in A-T 2018 UC Davis School of Medicine, Sacramento, CA Robert J Canter usa 4
A-T with a novel ATM gene mutation and Burkitt leukemia: A case report 2018 Department of Pediatrics, Xiangya Hospital, Central South University Liangchun Yang china 4
Genetic analysis of undiagnosed A-T-like disorders 2018 Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University Masatoshi Takagi japan 4
Individual Radiosensitivity Assessment of the Families of A-T Patients by G2-Checkpoint Abrogation 2018 Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences Majid Zaki-Dizaji iran 4
Trajectories of motor abnormalities in milder phenotypes of A-T 2018 Department of Neurology-Pediatric Neurology and Department of Neurology, Donders Institute for Brain, Cognition and Beha Bart P C van de Warrenburg netherlands 4
A Case of A-T Presented With Hemophagocytic Syndrome 2018 Department of Pediatric Allergy and Immunology, Faculty of Medicine, Ondokuz Mayis University Alisan Yildiran turkey 4
Variant A-T with prominent camptocormia 2018 Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolin Per Svenningsson sweden 4
Treatment of Granulomas in Patients With A-T 2018 Goethe University, Frankfurt Stefan Zielen germany 5
A-T alters the ApoB and reelin pathway 2018 Goethe University Medical School Uwe Warnken germany 5
Proteomics and transcriptomics analyses of A-T cells treated with Dexamethasone 2018 Department of Biomolecular Sciences, University of Urbino Michele Menotta italy 6
Minimum effective betamethasone dosage on the neurological phenotype in patients with A-T: a multicenter observer-blind study 2018 Department of Translational Medical Sciences, Pediatrics Section, Federico II University of Naples E Cirillo italy 6
Secondary enuresis and urological manifestations in children with A-T 2018 Sackler School of Medicine, Tel-Aviv University Yoram Mor israel 7
Ibuprofen prevents progression of A-T symptoms in ATM-deficient mice 2018 Division of Life Science and State Key Laboratory of Molecular Neurobiology, Hong Kong University of Science and Technol Karl Herrup china 7
A-T and Cancer Predisposition: Challenges in Management 2018 Department of Pediatrics, Division of Pediatric Hematology Oncology, Vanderbilt University Medial Center James A Connelly usa 8
Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the A-T mouse model 2019 Department of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University Manuela Pellegrini italy 1
Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an A-T patient carrying a novel homozygous deletion in ATM gene 2019 "Angelo Nocivelli" Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of B S Giliani italy 1
DNA damage and transcriptional regulation in iPSC-derived neurons from A-T patients 2019 Department of Research, Fondazione IRCCS Istituto Nazionale Tumori Domenico Delia italy 2
Antioxidant Defense, Redox Homeostasis, and Oxidative Damage in Children With A-T and Nijmegen Breakage Syndrome 2019 Medical University of Bialystok Bozena Mikoluc poland 2
GSE4 peptide suppresses oxidative and telomere deficiencies in A-T patient cells 2019 Instituto de Investigaciones Biomédicas CSIC/UAM, IDiPaz, C/ Arturo Duperier Rosario Perona spain 3
Hematopoietic Stem Cell Transplantation Restores Naïve T-Cell Populations in Atm-Deficient Mice and in Preemptively Treated Patients With A-T 2019 Division for Allergy, Pneumology and Cystic Fibrosis, Department for Children and Adolescence, Goethe-University, Frankf Ralf Schubert germany 3
Adult-onset variant A-T diagnosed by exome and cDNA sequencing 2019 Institute of Human Genetics, Munich Matias Wagner germany 4
Genotype-phenotype correlations in A-T patients with ATM c.3576G>A and c.8147T>C mutations 2019 Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen Michèl A A P Willemsen netherlands 4
Clinical diagnosis and genetic counseling of atypical ataxia?telangiectasia in a Chinese family 2019 BGI Genomics, BGI?Shenzhen, Shenzhen, Guangdong Xuemei Tan china 4
ATM mutation spectrum in Russian children with A-T 2019 St.-Petersburg Pediatric Medical University, St.-Petersburg Evgeny Imyanitov russia 4
Genotype, extrapyramidal features, and severity of variant A-T 2019 A-T Service, Respiratory Support and Sleep Centre, Papworth Hospital, Cambridge Anke E Hensiek uk 4
Two novel variants in the ATM gene causing A-T, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation 2019 Department of Biomedical Diagnostics, Hospital San Pedro Ivan Bernardo-Gonzalez spain 4
Dermatofibrosarcoma protuberans in a pediatric patient with A-T syndrome 2019 Cooper Medical School of Rowan University, Camden, NJ Steven Manders usa 4
Fanconi Anemia and A-T in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations 2019 Department of Pediatrics, Division of Pediatric Hematology, Faculty of Medicine, Hacettepe University Fatma Gumruk turkey 4
Odalisque's Position as a Geste Antagoniste in a Variant Phenotype of A-T 2019 Department of Pediatrics Centre Hospitalier Universitaire Liège CHU Laurent Servais belgium 4
Functional classification of ATM variants in A-T patients 2019 Institut Curie, PSL Research University, INSERM U830, Paris Marc-Henri Stern france 4
Adult-onset variant A-T diagnosed by exome and cDNA sequencing 2019 Institute of Human Genetics, Munich Matias Wagner germany 4
Novel homozygous ataxia?telangiectasia (A?T) mutated gene mutation identified in a Chinese pedigree with A?T 2019 Cardiovascular Center, Children's Hospital of Fudan University, Shanghai Guoying Huang china 4
Assessment of vitamin D status in common variable immunodeficiency or A-T patients 2019 Federal University of São Paulo R O S Sarni brazil 4
Identification of Two Novel Mutations in the ATM Gene from Patients with A-T by Whole Exome Sequencing 2019 Multiple Ali R Mohamadi iran 4
Multiparametric cerebellar imaging and clinical phenotype in childhood A-T 2019 Radiological Sciences, Division of Clinical Neuroscience, University of Nottingham; Sir Peter Mansfield Imaging Centre, Dorothee P Auer uk 4
Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in A-T: First Case from the National Iranian Registry and Review of the Literature 2019 Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, and the Univ Asghar Aghamohammadi iran 4
A-T Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience 2019 Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toro Chaim M Roifman canada 4
Clinical Presentation of A-T 2019 Shiraz University of Medical Sciences Hamid Nemati iran 4
Long-Term Evaluation of Low-Dose Betamethasone for A-T 2019 Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo Masatoshi Takagi japan 6
Activation of NRF2 by dexamethasone in A-T cells involves KEAP1 inhibition but not the inhibition of p38 2019 Department of Biomolecular Sciences, University of Urbino, Urbino Mauro Magnani italy 6
Vasculitis in a Child With the Hyper-IgM Variant of A-T 2019 Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver Jordan K Abbott usa 6
DDIT4 gene expression is switched on by a new HDAC4 function in A-T 2019 Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino Michele Menotta italy 6
Increased susceptibility of airway epithelial cells from A-T to S. pneumoniae infection due to oxidative damage and impaired innate immunity 2019 Neuroscience & Infectious Disease Group, The University of Queensland Centre for Clinical Research, Herston, Queensland Martin F Lavin australia 7
The Cerebellar Cognitive Affective Syndrome in A-T 2019 Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Jeremy D Schmahmann usa 7
A-T mutated is required for the development of protective immune memory after influenza A virus infection 2019 School of Medicine and Dentistry, University of Rochester, New York Michael A O'Reilly usa 7
Progressive Liver Disease in Patients With A-T 2019 Division of Allergology, Department for Children and Adolescents, Pulmonology and Cystic Fibrosis, Goethe University, Fr Stefan Zielen germany 7
Trihexyphenidyl for treatment of dystonia in A-T: a case report 2019 Departments of Pediatrics and Neurology, Xuanwu Hospital, Capital Medical University, Beijing Yuping Wang china 7
Functional parameter measurements in children with A-T 2019 The Sackler School of Medicine, Tel Aviv University, Tel Aviv Andreea Nissenkorn israel 8
Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on A-T 2019 Department of Pediatrics, Leiden University Medical Centre, Leiden Mirjam van der Burg netherlands 8
Classic A-T: the phenotype of long-term survivors 2019 Department of Pediatric Neurology, Radboudumc Amalia Children's Hospital, Donders Institute for Brain, Cognition and Beh Michèl A A P Willemsen netherlands 8
Early diagnosis of A-T in the neonatal phase: a parents' perspective 2019 Department of Pediatric Neurology, Amalia Children's Hospital, Donders Institute for Brain, Cognition and Behavior, Radb M A A P Willemsen netherlands 8
Correction of ATM mutations in iPS cells from two A-T patients restores DNA damage and oxidative stress responses 2020 Australian Institute for Bioengineering and Nanotechnology (AIBN), The University of Queensland, St. Lucia, Brisbane Ernst J Wolvetang australia 1
DNA methylation and gene expression signatures are associated with A-T phenotype 2020 Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins School of Medicine, Baltimore ; Division of Pulmonary Benjamin D Singer usa 1
Analysis of chromosomal aberrations and ?H2A.X foci to identify radiation-sensitive A-T patients 2020 Department of Effects and Risks of Ionising and Non-Ionising Radiation, Federal Office for Radiation Protection, Ingolst Maria Gomolka germany 1
Cutaneous and systemic granulomatosis in A-T: a clinico-pathological study 2020 Department of Paediatric Pneumonology, Allergology and Clinical Immunology, Poznan University of Medical Sciences, Pozna Anna Br?borowicz poland 2
Impaired endoplasmic reticulum-mitochondrial signaling in A-T 2020 University of Queensland Centre for Clinical Research, The University of Queensland, Herston, Brisbane Martin F Lavin australia 2
Dystonia in A-T: A Case Report with Novel Mutations 2020 Legal Medicine Research Center, Legal Medicine Organization, Tehran ; Research Center for Immunodeficiencies, Children's Asghar Aghamohammadi iran 4
A novel mutation in ATM gene in a Saudi female with A-T 2020 King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah ; Center of Excellence in Ge Muhammad Imran Naseer saudi-arabia 4
Melanoma arising in a patient with A-T: A call for full skin examinations in this patient population 2020 Oakland University William Beaumont School of Medicine, Rochester Hills ; Department of Dermatology, Henry Ford Health S Tor Shwayder usa 4
A-T complicated with Hodgkin's lymphoma: A case report 2020 Department of Pediatrics (III), The Linyi People's Hospital, Linyi 276000, Shandong Province Yi-Lin Wang china 4
Novel Variants in ATM Causing Mild A-T: From Benchside to Bedside and Back Again 2020 Consultorio y Laboratorio de Neurogenética, Centro Universitario de Neurología "José María Ramos Mejía" y División Neuro Marcelo Andres Kauffman argentina 4
Diabetes in Patients With A-T: A National Cohort Study 2020 Division of Allergology, Pulmonology and Cystic Fibrosis, Department for Children and Adolescents, Goethe University, Fr Stefan Zielen germany 4
Functional Confirmation of DNA Repair Defect in A-T Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID) 2020 Division of Rheumatology, Allergy, and Immunology, Massachusetts General Hospital, Boston ; Department of Pathology and Roshini S Abraham usa 4
Hepatosplenic ?? T-Cell Lymphoma as Second Malignancy in Young Adult Patient With Previously Undiagnosed A-T 2020 University of Michigan Rajen Mody usa 4
Intestinal-type gastric adenocarcinoma in a patient with A-T syndrome 2020 Aparato Digestivo, Hospital Universitario Virgen de las Nieves Clara Heredia Carrasco spain 4
Novel Genetic Variant of A-T Presenting with Necrotising Pneumonia and Bronchopleural Fistulae at the Age of 4 Years 2020 Department of Paediatric, Armed Forces Hospital, Southern Region, Khamis Mushayt Walid Fawzy Muhammad saudi-arabia 4
Clinical characteristics of A-T presenting dystonia as a main manifestation 2020 Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul ; Neuroscience Center Jinyoung Youn south-korea 4
Variable Abnormalities in T and B Cell Subsets in A-T 2020 Department of Immunology, Semnan University of Medical Sciences, Semnan ; Research Center for Immunodeficiencies, Childr Reza Yazdani iran 4
Parents of A-T patients display a distinct cellular immune phenotype mimicking ATM-mutated patients 2020 Division of Pediatric Allergy-Immunology, Faculty of Medicine, Marmara University, Istanbul Safa Baris turkey 4
Identifying A-T in cancer patients: Novel insights from an interesting case and review of literature 2020 Division of Medical Oncology National Cancer Centre Singapore Joanne Ngeow singapore 4
Six Novel ATM Gene Variants in Sri Lankan Patients with A-T 2020 Human Genetics Unit, Faculty of Medicine, University of Colombo V H W Dissanayake sri-lanka 4
In A-T, Oral Betamethasone Administration Ameliorates Lymphocytes Functionality through Modulation of the IL-7/IL-7R? Axis Paralleling the Neurological Behavior: A Comparative Report of Two Cases 2020 Department of Translational Medical Sciences-Section of Pediatrics, Federico II University , Naples Claudio Pignata italy 6
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from A-T patients 2020 Department of Medical Sciences, University of Torino, via Santena 19, 10126, Turin Alfredo Brusco italy 6
Variant A-T in a child presenting with laryngeal dystonia 2020 Departments of Pediatric Neurology, ?zmir Tepecik Training and Research Hospital; Department of Pediatric, Neurology, ?z P?nar Gençp?nar turkey 7
Management of a pediatric patient with A-T: Report of a rare case in which diagnostic radiographs are contraindicated 2020 Department of Pedodontics and Preventive Dentistry, Saveetha Dental College, Saveetha Institute of Medical and Technical Mebin George Mathew india 7
Effect of Class Switch Recombination Defect on the Phenotype of A-T Patients 2020 Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, University of Medica Asghar Aghamohammadi iran 7
Bladder Artery Embolization for Massive Hematuria Treatment in a Patient With A-T Acute Lymphoblastic Leukemia 2020 Division of Pediatric Intensive Care, Faculty of Medicine, Karadeniz Technical University, Trabzon Gülay Kaya turkey 7
Immune competence and respiratory symptoms in patients with A-T: A prospective follow-up study 2020 Department for Children and Adolescents, Division of Allergology, Pulmonology and Cystic fibrosis, Goethe University, Fr Stefan Zielen germany 7
Clinical complications and their management in a child with A-T (A-T): A case report study 2020 Kashan University of Medical Sciences Hossein Motedayyen iran 7
Granulomatous Liver Disease in A-T With the Hyper-IgM Phenotype: A Case Report 2020 Poznan University of Medical Sciences, Karol Jonscher University Hospital, Poznan Katarzyna Jo?czyk-Potoczna poland 7
The Development of Chylothorax in a Child With T-Cell Lymphoblastic Lymphoma and A-T During Induction Therapy 2020 Division of Pediatric Oncology Division of Pediatric Pulmonology, Health Science University, Ankara Children's Hematolog Güzin Cinel turkey 7
Accumulation of Brain Hypointense Foci on Susceptibility-Weighted Imaging in Childhood A-T 2021 From the Radiological Sciences, Division of Clinical Neuroscience (R.A.D., C.V.B., S.Pszczolkowski, D.P.A.) D P Auer uk 1
NAD+ supplementation prevents STING-induced senescence in A-T by improving mitophagy 2021 aboratory of Molecular Gerontology, National Institute on Aging, NIH, Baltimore Vilhelm A Bohr usa 2
A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and A-T 2021 IntraBio Ltd, Begbroke Science Park, Begbroke Hill, Woodstock Road, Oxford ; Department of Neurology and German Center f M Strupp uk 3
ISG15 attenuates post-translational modifications of mitofusins and congression of damaged mitochondria in A-T cells 2021 Department of Biochemistry & Molecular Biology, LSU Health Sciences Center-School of Medicine, 1901 Perdido Street, New Shyamal Desai usa 3
Elevated inflammatory responses and targeted therapeutic intervention in a preclinical mouse model of A-T lung disease 2021 Department of Internal Medicine, University of Michigan, 109 Zina Pitcher Place, 2063 BSRB, Box 2200, Ann Arbor JoAnn M Sekiguchi usa 3
Dysarthria in children and adults with A-T 2021 Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen Michèl A A P Willemsen netherlands 4
Retrospective Diagnosis of A-T in an Adolescent Patient With a Remote History of T-Cell Leukemia 2021 Maine Children's Cancer Program, Maine Medical Center, Scarborough ; Department of Pediatrics, Aflac Cancer & Blood Diso Daniel S Wechsler usa 4
Selenium levels and glutathione peroxidase activity in patients with A-T: association with oxidative stress and lipid status biomarkers 2021 Department of Pediatrics, Universidade Federal de São Paulo, Escola Paulista de Medicina, Rua Dr. Diogo de Faria, 671, S Roseli Oselka Saccardo Sarni brazil 4
The spectrum of ATM gene mutations in Iranian patients with A-T 2021 Tehran University of Medical Science Hassan Abolhassani iran 4
Altered Cerebrospinal Fluid (CSF) in Children with A-T 2021 Department for Children and Adolescents, Division of Allergology, Pulmonology and Cystic Fibrosis, Goethe University S Zielen germany 4
Evidence for pathogenicity of variant ATM Val1729Leu in a family with A-T 2021 Department of Neurology, Faculty of Medicine, Ain Shams University, Cairo ; Department of Neurology, University of Kiel Gregor Kuhlenbäumer egypt 4
Phenotypic variability in patients with unique double homozygous mutations causing variant A-T 2021 Soroka University Medical Center, Beer-Sheva, Israel; Joyce and Irving Goldman Medical School, Faculty of Health Science Arnon Broides israel 4
Growth in A-T 2021 Forgotten Diseases Research Foundation, Santa Clara ; Division of Pediatric Allergy and Immunology, The Johns Hopkins Me Howard M Lederman usa 4
Neurofilament Light Chain Is a Biomarker of Neurodegeneration in A-T 2021 Division of Allergology, Pulmonology and Cystic Fibrosis, Department for Children and Adolescents, Goethe University, Fr S Zielen germany 4
Neurofilament light chain: A novel blood biomarker in patients with A-T 2021 Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen M A A P Willemsen netherlands 4
Accumulation of Brain Hypointense Foci on SusceptibilityWeighted Imaging in Childhood Ataxia Telangiectasia 2021 Nottingham University Hospital Rob Dineen uk 4
An anaplerotic approach to correct the mitochondrial dysfunction in A-T 2021 University of Queensland Centre for Clinical Research, The University of Queensland, Herston, Brisbane Martin F Lavin australia 6
Effects of Acetyl-DL-Leucine on Ataxia and Downbeat-Nystagmus in Six Patients With Ataxia Telangiectasia 2021 Department of Internal Medicine, Sonnenhofspital, Lindenhofgruppe, Bern, Switzerland Adriana Brueggemann switzerland 6