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:

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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		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		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		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		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		7
Consequences of the delayed diagnosis of A-T	1998	University of California, San Francisco	Michael Cabana		8
Changes of chromatin condensation in one patient with A-T disorder: a structural study	1999	University of Genova	Laura Vergani		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		1
Neurodegeneration in A-T is caused by horror autotoxicus	1999	Department of Neurology, University of Miami,	Rodrigo Kuljis		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		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		2
Oligo-/monoclonal gammopathy and hypergammaglobulinemia in A-T. A study of 90 patients	1999	Mayo Clinic Hospital, Rochester	Amir Sadighi Akha		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		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		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		4
Oropharyngeal dysphagia and aspiration in patients with A-T	2000	Johns Hopkins University School of Medicine, Baltimore	Maureen Lefton-Greif		4
Characterization of ATM mutations in 41 Nordic families with A-T	2000	Department of Genetics, Norwegian Radium Hospital, Oslo	Knute Laake		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		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		2
Cancer risk in heterozygotes for A-T	2001	INSERM, Institut Gustave Roussy, Cedex	Beatrice Geoffroy-Perez		4
Cancer in patients with A-T and in their relatives in the nordic countries	2001	N/A	Jørgen Helge Olsen		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		1
Deficiencies in CD4+ and CD8+ T cell subsets in A-T	2002	University of California, San Diego, School of Medicine	Robert Schubert		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		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		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		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		5
Hodgkin's disease and A-T with pulmonary cavities	2002	Department of Pediatric Oncology, Institute of Oncology, Hacettepe University, Ankara	Bilgehan Yalçin		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		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		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		2
A-T: the pattern of cerebellar atrophy on MRI	2003	Department of Radiology, University of Modena, Italy	Federica Tavani		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		2
Desferrioxamine treatment increases the genomic stability of A-T cells	2003	Osteopathic Medical Center, Des Moines University, Des Monies	Rodney Shackelford		3
METHOD OF ANALYZING A-T PROTEIN	2003	David Geffen School of Medicine, University of California-Los Angeles	Richard Gatti		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		4
Predisposition to breast cancer by mutations at the A-T genetic locus	2003	N/A	Michael Swift		4
Hodgkin disease in A-T patients with poor outcomes	2003	Department of Pediatrics, New York Medical College	Claudio Sandoval		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		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		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		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		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		4
ATM Gene Mutations Detection in Iranian A-T Patients	2004	National Research Center for Genetic Engineering and Biotechnology, Tehran	Mohammad-Hossein Sanati		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		4
Slow progression of A-T with double missense and in frame splice mutations	2004	Medical School, Hannover	Thilo Dork		4
Molecular cytogenetic parameters in fibroblasts of A-T carrier	2004	Genetic Institute, Meir Hospital, Kfar Saba,, and Bar-Ilan University,	A. Amiel		4
Elevated oxidative stress in patients with A-T	2004	Department of Pediatrics, Johann-Wolfgang Goethe Universität Frankfurt, Frankfurt	Janine Reichenbach		5
Immunodeficiency and infections in A-T	2004	John Hopkins University School of Medicine, Baltimore	Anna Nowak-Wegrzyn		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		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		2
Methods for detection of A-T mutations	2005	David Geffen School of Medicine, University of California-Los Angeles	Richard Gatti		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		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		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		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		4
Cancer risk according to type and location of ATM mutation in A-T families	2005	Institute Curie, Biostatistics Department, Paris	E. Cavacitui		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		7
Interstitial lung disease in patients with A-T	2005	Department of Pediatrics, Winthrop-University Hospital, Mineola, New York	Scott A. Schroeder		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		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		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		4
Exclusion/confirmation of A-T via cell-cycle testing	2006	Department of Human Genetics, University of Würzburg, Würzburg	Tilman Heinrich		4
Betamethasone and improvement of neurological symptoms in A-T	2006	Department of Pediatrics, Policlinico Le Scotte, University of Siena, Siena	Raffaella Zannolli		7
Response to polysaccharide antigens in patients with A-T	2006	Federal University of São Paulo (UNIFESP), São Paulo	Maria Guerra-Maranhão		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		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		1
Proton spectroscopy and imaging at 3T in A-T	2007	Academic Unit of Radiology, The University of Sheffield, Sheffield	LI, Wallis		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		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		4
Rapid molecular prenatal diagnosis of A-T by direct mutational analysis	2007	Department of Inmunology, University Hospital of October 12th, Madrid	Esther Mancebo		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		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		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		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		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		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		4
Steroid-induced improvement of neurological signs in A-T patients	2008	Department of Pediatrics, Federico II University, Naples	Claudio Pignata		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		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		3
Neurodegeneration mediated by chromosome instability suggests changes in strategy for therapy development in A-T	2009	N/A	Yurov YB		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		4
Rapid assay for detecting A-T homozygotes heterozygotes	2009	David Geffen School of Medicine, University of California-Los Angeles	Richard Gatti		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		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		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		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		4
Efficacy of very-low-dose betamethasone on neurological symptoms in A-T	2010	Department of Pediatrics, Federico II University, Naples	T Broccoletti		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		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		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		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		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		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		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		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		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		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		3
Cognitive and speech-language performance in children with A-T	2011	Department of Medical Psychology, The University of Nijmegen	Anja Vinck		4
Morbidity and mortality from A-T are associated with ATM genotype	2011	Pediatric Immunohematology Department, Hôpital Necker-Enfants Malades, Paris,	Romain Micol		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		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		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		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		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		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		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		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		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		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		4
Newborn screening for SCID identifies patients with A-T	2012	Department of Pediatrics, University of California San Francisco	Jacob Mallott		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		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		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		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		6
A patient-derived olfactory stem cell disease model for A-T	2013	Queensland Institute of Medical Research, Brisbane, Queensland	Romal Stewart		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		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		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		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		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		2
EZH2-mediated H3K27 trimethylation mediates neurodegeneration in A-T	2013	Kunming Institute of Zoology Chinese Academy of Sciences	Jiali Li		2
Intrinsic mitochondrial DNA repair defects in A-T	2013	Dr D Y Patil Biotechnology and Bioinformatics Institute	Nilesh Kumar Sharma		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		4
Dermatologic manifestations of A-T syndrome	2013	Department of Dematology Sheba Medical Centre, Ramat Gan	Shoshana Greenberger		4
p53 centrosomal localization diagnoses A-T homozygotes and heterozygotes	2013	Department of Experimental Oncology, Regina Elena National Cancer Institute, Rome	Andrea Prodosmo		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		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		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		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		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		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		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		1
Forward subtractive libraries containing genes transactivated by dexamethasone in A-T lymphoblastoid cells	2014	Department of Biomolecular Sciences, University of Urbino	Sara Biagiotti		1
The pleiotropic movement disorders phenotype of adult A-T	2014	Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, Paris	Aurélie Méneret		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		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		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		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		1
Positive effect of erythrocyte-delivered dexamethasone in A-T	2015	Sapienza University of Rome, Rome	Vincenzo Leuzzi		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		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		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		1
Molecular and Functional Characterization of a Cohort of Spanish Patients with A-T	2016	Universidad de Granada	Diana Carranza Dominguez		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		1
A rat model of A-T: evidence for a neurodegenerative phenotype	2016	QIMR Berghofer Medical Research Institute, Herston	Hazel Quek		1
The impact of glutamine supplementation on the symptoms of A-T: a preclinical assessment	2016	Rugers University, New Jersey	Jianmin Chen		3
Longitudinal analysis of the neurological features of A-T	2016	Imperial College Healthcare NHS Trust	Thomas Jackson		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		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		5
Growth and nutrition in children with A-T	2016	Nottingham Children's Hospital, National Paediatric A-T Clinic, Nottingham,	Emma Stewart		7
Endocrine abnormalities in A-T: findings from a national cohort	2016	The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv	Andreea Nissenkorn		7
Audiological findings in children with A-T (A-T) syndrome	2016	Lecturer of Audiology, Otorhinolaryngology Department, Ain Shams University, Cairo	Pretty O Afifi		7
A-T: presentation and diagnostic delay	2016	Nottingham Children's Hospital, National Paediatric A-T Clinic, Nottingham	Rebecca Devaney		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		1
Assaying Radiosensitivity of A-T	2017	Department of Pathology, Duke University School of Medicine, Durham	Hailiang Hu		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		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		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		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		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		4
Telomere length, ATM mutation status and cancer risk in A-T families	2017	INSERM, Paris	Anne-Laure Renault		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		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		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		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		4
Type I IFN-related NETosis in A-T and Artemis deficiency	2017	Department of Biological Sciences, Middle East Technical University, Ankara	Ersin Gul		5
In vivo effects of dexamethasone on blood gene expression in A-T	2017	Department of Biomolecular Sciences, University of Urbino	Michele Menotta		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		6
Neurovisual Assessment in Children with A-T	2017	Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Brescia	Alessandro Iodice		7
A-T and Cancer Predisposition: Challenges in Management	2017	Department of Oncology, St. Jude Children's Research Hospital, Memphis	Santhosh A Upadhyaya		8
Atm reactivation reverses A-T phenotypes in vivo	2018	Department of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University, Rome	Sara Di Siena		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		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		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		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		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		2
Inflammation and transcriptional responses of peripheral blood mononuclear cells in classic A-T	2018	Johns Hopkins, Baltimore, Maryland	Howard M Lederman		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		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		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		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		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		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		4
Retroperitoneal extramedullary hematopoietic pseudotumor in A-T	2018	UC Davis School of Medicine, Sacramento, CA	Robert J Canter		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		4
Genetic analysis of undiagnosed A-T-like disorders	2018	Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University	Masatoshi Takagi		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		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		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		4
Variant A-T with prominent camptocormia	2018	Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolin	Per Svenningsson		4
Treatment of Granulomas in Patients With A-T	2018	Goethe University, Frankfurt	Stefan Zielen		5
A-T alters the ApoB and reelin pathway	2018	Goethe University Medical School	Uwe Warnken		5
Proteomics and transcriptomics analyses of A-T cells treated with Dexamethasone	2018	Department of Biomolecular Sciences, University of Urbino	Michele Menotta		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		6
Secondary enuresis and urological manifestations in children with A-T	2018	Sackler School of Medicine, Tel-Aviv University	Yoram Mor		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		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		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		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		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		2
Antioxidant Defense, Redox Homeostasis, and Oxidative Damage in Children With A-T and Nijmegen Breakage Syndrome	2019	Medical University of Bialystok	Bozena Mikoluc		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		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		3
Adult-onset variant A-T diagnosed by exome and cDNA sequencing	2019	Institute of Human Genetics, Munich	Matias Wagner		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		4
Clinical diagnosis and genetic counseling of atypical ataxia?telangiectasia in a Chinese family	2019	BGI Genomics, BGI?Shenzhen, Shenzhen, Guangdong	Xuemei Tan		4
ATM mutation spectrum in Russian children with A-T	2019	St.-Petersburg Pediatric Medical University, St.-Petersburg	Evgeny Imyanitov		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		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		4
Dermatofibrosarcoma protuberans in a pediatric patient with A-T syndrome	2019	Cooper Medical School of Rowan University, Camden, NJ	Steven Manders		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		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		4
Functional classification of ATM variants in A-T patients	2019	Institut Curie, PSL Research University, INSERM U830, Paris	Marc-Henri Stern		4
Adult-onset variant A-T diagnosed by exome and cDNA sequencing	2019	Institute of Human Genetics, Munich	Matias Wagner		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		4
Assessment of vitamin D status in common variable immunodeficiency or A-T patients	2019	Federal University of São Paulo	R O S Sarni		4
Identification of Two Novel Mutations in the ATM Gene from Patients with A-T by Whole Exome Sequencing	2019	Multiple	Ali R Mohamadi		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		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		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		4
Clinical Presentation of A-T	2019	Shiraz University of Medical Sciences	Hamid Nemati		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		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		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		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		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		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		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		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		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		7
Functional parameter measurements in children with A-T	2019	The Sackler School of Medicine, Tel Aviv University, Tel Aviv	Andreea Nissenkorn		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		4
Hepatosplenic ?? T-Cell Lymphoma as Second Malignancy in Young Adult Patient With Previously Undiagnosed A-T	2020	University of Michigan	Rajen Mody		4
Intestinal-type gastric adenocarcinoma in a patient with A-T syndrome	2020	Aparato Digestivo, Hospital Universitario Virgen de las Nieves	Clara Heredia Carrasco		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		4
The spectrum of ATM gene mutations in Iranian patients with A-T	2021	Tehran University of Medical Science	Hassan Abolhassani		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		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		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		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		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		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		4
Accumulation of Brain Hypointense Foci on SusceptibilityWeighted Imaging in Childhood Ataxia Telangiectasia	2021	Nottingham University Hospital	Rob Dineen		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		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		6
The natural history of ataxia-telangiectasia (A-T): A systematic review	2022	Nottingham University Hospital	Emily Petley		2
Quality of life and neurological disability in children and young people with ataxia telangiectasia	2022	Queensland Health, Metro North Hospital and Health Service	Hannah L. McGlashan		2
A-T patient-derived neuronal and brain organoid models reveal mitochondrial dysfunction and oxidative stress	2024	The University of Queensland, Australian Institute for Bioengineering & Nanotechnology (AIBN), Brisbane, Australia	Ernst J Wolvetang		1
Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with A-T (ATTeST)	2024	EryDel and Quince Therapeutics	Various		5