Results 141 to 150 of about 53,382 (220)

Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis. [PDF]

Front Pediatr
Song H, Lin Y, Xian Y.
europepmc   +1 more source

Ataxia telangiectasia [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
N Uhrhammer, JO Bay, RA Gatti
openaire   +2 more sources

Ataxia-telangiectasia mutated activation mediates transforming growth factor beta signaling in acetaminophen-induced liver injury in mice. [PDF]

Physiol Rep
McMillin M, Chu CS, Williams E, Venter J, Bell K, Petrescu AD, Mireles P, DeMorrow S.   +7 more
europepmc   +1 more source

Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority. [PDF]

Genes (Basel)
Chamova T, Todorov T, Palaima P, Yankova P, Pacheva I, Ivanov I, Georgieva B, Cherninkova S, Savov A, Zlatareva D, Naumova E, Todorova A, Jordanova A, Tournev I.   +13 more
europepmc   +1 more source

Alpha-ketoglutarate mitigates insulin resistance and metabolic inflexibility in a mouse model of Ataxia-Telangiectasia. [PDF]

Nat Commun
Sun JK, Hart RP, Herrup K, Peng AZ, Wong GC, Wu D, Kwan KM, Chow KH.   +7 more
europepmc   +1 more source

Triheptanoin treatment in ataxia-telangiectasia: the significance of innovative clinical trials targeting mitochondrial dysfunction. [PDF]

EBioMedicine
Onodera O.
europepmc   +1 more source

Personalized MRI-based characterization of subcortical anomalies in Ataxia-Telangiectasia using deep-learning. [PDF]

PLoS One
Saini C, Salazar-Vilches C, Blanchard CCV, Whitehouse WP, Parra D, Dineen RA, Pszczolkowski S.   +6 more
europepmc   +1 more source

Biomarkers in Ataxia-Telangiectasia: a Systematic Review. [PDF]

J Neurol
Tiet MY, Guțu BI, Springall-Jeggo P, Coman D, Willemsen M, Van Os N, Doria M, Donath H, Schubert R, Dineen RA, Biagiotti S, Prayle AP, Group ATBW, Hensiek AE, Horvath R.   +14 more
europepmc   +1 more source

Mapping the non-coding RNA landscape in ataxia telangiectasia: a scoping review of ATM dependent miRNA and lncRNA dysregulation. [PDF]

Mol Biol Rep
Iqbal MJ, Ameen U, Tanveer H, Israr L, Ricci A, Morganti G, Khan MJ, Menotta M.   +7 more
europepmc   +1 more source

Epigenetic Insights into Tuberous Sclerosis Complex, Von Hippel-Lindau Syndrome, and Ataxia-Telangiectasia. [PDF]

Epigenomes
Hadjigavriel G, Stylianides C, Axarloglou E, Manthou ME, Vakirlis E, Theotokis P, Meditskou S, Dermitzakis I.   +7 more
europepmc   +1 more source