https://about.uq.edu.au/experts/project/42007
Ataxia-telangiectasia: treating mitochondrial dysfunction with a novel form of anaplerosis |...
ataxia telangiectasiamitochondrial dysfunctiontreating
https://pubmed.ncbi.nlm.nih.gov/40916123/
Tumor Versus Capillary Telangiectasia in Recurring Glioblastoma
This image highlights a diagnostic pitfall in a 65-year-old patient with recurrent glioblastoma. 18 F-FET-PET revealed 2 hotspots with focally enhanced uptake:...
capillary telangiectasiatumorversusrecurringglioblastoma
https://www.wikidata.org/wiki/Q41464274
The genetic defect in ataxia-telangiectasia - Wikidata
scientific article published on January 1997
ataxia telangiectasiageneticdefectwikidata
https://anesthesia.ucsf.edu/research-projects/cerebral-hemorrhage-risk-hereditary-hemorrhagic-telangiectasia-bvmc-6203
Cerebral hemorrhage risk in hereditary hemorrhagic telangiectasia (BVMC 6203) | Anesthesia
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder that causes abnormal blood vessels to form throughout the body. In HHT, small...
cerebralhemorrhageriskhereditaryhemorrhagic
https://research.birmingham.ac.uk/en/projects/the-function-of-the-ataxia-telangiectasia-mutated-atm-protein-in-/
The function of the ataxia telangiectasia mutated (ATM) protein in lymphoid tumour development -...
the functionataxia telangiectasia
https://structure.bmc.lu.se/idbase/RNF168base/index.php?content=bioinfor/IDbases
RNF168base: Ataxia telangiectasia | Bioinformatics |
ataxia telangiectasiabioinformatics
https://experts.arizona.edu/en/publications/functional-link-between-blm-defective-in-blooms-syndrome-and-the-/
Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated...
https://pmc.ncbi.nlm.nih.gov/articles/PMC9553319/
Macular Telangiectasia Type 2: A Comprehensive Review - PMC
Macular telangiectasia Type 2 (MacTel) is a gradually progressive disease that affects the quality of life by impairing both distant and near vision. It had...
macular telangiectasiacomprehensive reviewtypepmc
https://www.semanticscholar.org/topic/Ataxia-Telangiectasia/8263
Ataxia Telangiectasia | Semantic Scholar
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA...
ataxia telangiectasiasemanticscholar
https://profiles.wustl.edu/en/publications/neurovascular-manifestations-in-hereditary-hemorrhagic-telangiect/
Neurovascular Manifestations in Hereditary Hemorrhagic Telangiectasia: Imaging Features and...
neurovascularmanifestationshereditaryhemorrhagictelangiectasia
https://publikationen.bibliothek.kit.edu/230016304
Repair of DNA double strand breaks in ataxia telangiectasia an...
double strandataxia telangiectasiarepairdnabreaks
https://infoscience.epfl.ch/entities/publication/b26b29ce-b749-4ab6-9e8c-d6af6a2dd4c0
Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant...
Purpose: We report the case of a neurologically asymptomatic young boy presenting with an unusual phenotype of CYP2U1 related macular dystrophy associating...
macular dystrophyto thebilateraltelangiectasia
https://pure.psu.edu/en/publications/genetic-counseling-and-testing-for-hereditary-hemorrhagic-telangi/
Genetic counseling and testing for hereditary hemorrhagic telangiectasia - Penn State
genetic counselingtestinghereditaryhemorrhagictelangiectasia
https://pmc.ncbi.nlm.nih.gov/articles/PMC21549/
Isolation of full-length ATM cDNA and correction of the ataxia-telangiectasia cellular phenotype -...
A gene mutated in the human genetic disorder ataxia-telangiectasia (A-T), ATM, was recently identified by positional cloning. ATM is a member of the...
https://scholars.duke.edu/publication/1672849
Scholars@Duke publication: Disruption of ataxia telangiectasia-mutated kinase enhances radiation...
ataxia telangiectasiascholarsdukepublicationdisruption
https://www.mayoclinic.org/diseases-conditions/hht/request-appointment/ptc-20170148
Hereditary hemorrhagic telangiectasia - Request an appointment - Mayo Clinic
This inherited blood vessel condition can cause bad nosebleeds, strokes, bleeding in the digestive tract and anemia.
request an appointmenthereditaryhemorrhagictelangiectasiamayo
https://www.cancer.org/cancer/risk-prevention/genetics/family-cancer-syndromes/ataxia.html
Ataxia-telangiectasia (A-T) | American Cancer Society
Ataxia-telangiectasia (A-T) is a rare hereditary condition that affects the nervous system, immune system, and other body systems. Other names for A-T include...
ataxia telangiectasiaamericancancersociety
https://structure.bmc.lu.se/idbase/RNF168base/index.php?content=pubs/IDbases
RNF168base: Ataxia telangiectasia | Publications |
ataxia telangiectasiapublications
https://www.cirm.ca.gov/about-cirm/publications/smrt-compounds-abrogate-cellular-phenotypes-ataxia-telangiectasia-neural-derivatives-patient-specific-hipscs/
SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of...
ataxia telangiectasiasmrtcompoundsabrogatecellular
https://pubmed.ncbi.nlm.nih.gov/39812834/
Biomarkers in Ataxia-Telangiectasia: a Systematic Review
Ataxia-Telangiectasia (A-T) is a very rare multisystem disease of DNA repair, associated with progressive disabling neurological symptoms, respiratory failure,...
ataxia telangiectasiabiomarkerssystematicreview
https://www.techtransfer.nih.gov/patent/e-170-1995-0-us-01
Ataxia-Telangiectasia Gene | Technology Transfer
ataxia telangiectasiagene technologytransfer
https://hhtireland.org/
HHT Ireland | Hereditary Hemorrhagic Telangiectasia
Jul 7, 2026 - HHT Ireland (Hereditary Hemorrhagic Telangiectasia), is a rare genetic vascular disorder causing malformed blood vessels.
hhtirelandhereditaryhemorrhagictelangiectasia
https://pubmed.ncbi.nlm.nih.gov/39429196/
Arterial-Lymphatic-Like Endothelial Cells Appear in Hereditary Hemorrhagic Telangiectasia 2 and...
Together, our studies revealed the mechanistic underpinnings of ALK1 signaling in regulating the endothelial phenotype and provided possibilities for new...
endothelial cells
https://pubmed.ncbi.nlm.nih.gov/3910438/
Altered cellular morphology and microfilament array in ataxia-telangiectasia fibroblasts
Cells derived from individuals with the ataxia-telangiectasia syndrome demonstrate a number of unusual properties. They are highly sensitive to the lethal...
ataxia telangiectasiaalteredcellularmorphologyarray
https://pubmed.ncbi.nlm.nih.gov/28746835/
Genetic ataxia telangiectasia porcine model phenocopies the multisystemic features of the human...
Ataxia telangiectasia (AT) is a progressive multisystem autosomal recessive disorder caused by mutations in the AT-mutated (ATM) gene. Early onset AT in...
ataxia telangiectasiageneticporcinemodel
https://scholars.duke.edu/publication/786445
Scholars@Duke publication: Clinical manifestations in a large hereditary hemorrhagic telangiectasia...
clinical manifestationsscholarsdukepublication
https://pmc.ncbi.nlm.nih.gov/articles/PMC11735505/
Biomarkers in Ataxia-Telangiectasia: a Systematic Review - PMC
Ataxia-Telangiectasia (A-T) is a very rare multisystem disease of DNA repair, associated with progressive disabling neurological symptoms, respiratory failure,...
ataxia telangiectasiasystematic reviewbiomarkerspmc
https://www.wikidata.org/wiki/Q37374995
Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed...
scientific article published on November 15, 1997
mutanthereditaryhemorrhagic
https://experts.umn.edu/en/publications/embolic-abscesses-in-hereditary-hemorrhagic-telangiectasia/
Embolic abscesses in hereditary hemorrhagic telangiectasia - Experts@Minnesota
embolicabscesseshereditaryhemorrhagictelangiectasia
https://www.justgiving.com/fundraising/camilasroadtofighta-t
Camila Abreu is fundraising for Ataxia Telangiectasia Children's Project, Inc.
Help Camila Abreu raise money to support Ataxia Telangiectasia Children's Project, Inc.
ataxia telangiectasiacamilaabreufundraising
https://pubmed.ncbi.nlm.nih.gov/2466555/?dopt=Abstract
Ataxia-telangiectasia-like Chinese hamster V79 cell mutants with radioresistant DNA synthesis,...
We have isolated three radiosensitive mutants (V-C4, V-E5, and V-G8) of the Chinese hamster V79 cell line which also show increased sensitivities to killing by...
ataxia telangiectasia
https://www.techtransfer.nih.gov/patent/e-001-2014-0-us-01
ANTIBODIES THAT SPECIFICALLY BIND ATAXIA TELANGIECTASIA-MUTATED AND RAD3-RELATED KINASE...
ataxia telangiectasiaantibodiesspecificallybind
https://pmc.ncbi.nlm.nih.gov/articles/PMC20004/
The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not...
The product of the ataxia-telangiectasia gene (ATM) was identified by using an antiserum developed to a peptide corresponding to the deduced amino acid...
https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia-syndrome
Ataxia-telangiectasia syndrome | About the Disease | GARD
Find symptoms and other information about Ataxia-telangiectasia syndrome.
about the diseaseataxia telangiectasiasyndromegard
https://pubmed.ncbi.nlm.nih.gov/15390180/
Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families
Epidemiological studies have indicated that ataxia-telangiectasia (AT) heterozygotes in AT families have an increased risk of cancer, particularly of breast...
https://pubmed.ncbi.nlm.nih.gov/25138084/
The development of ataxia telangiectasia mutated kinase inhibitors
Radiation and genotoxic drugs are two of the cornerstones of current cancer treatment strategy. However, this type of therapy often suffers from radio- or...
the developmentataxia telangiectasiamutatedkinaseinhibitors
https://research.monash.edu/en/publications/ataxia-telangiectasia-mutated-and-p21supcip1sup-modulate-cell-sur/
Ataxia telangiectasia mutated and p21CIP1 modulate cell survival of drug-induced senescent tumor...
https://www.justgiving.com/team/rhettswarriors
Rhetts Warriors is fundraising for Ataxia Telangiectasia Children's Project, Inc.
Help Megan Johnson raise money to support Ataxia Telangiectasia Children's Project, Inc.
ataxia telangiectasiawarriorsfundraising