Results 161 to 170 of about 35,381 (234)

Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening. [PDF]

J Hum Immun
Weitering TJ, Berghuis D, Blom M, Willemsen MAAP, van der Burg M.   +4 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

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

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

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

EBioMedicine
Onodera O.
europepmc   +1 more source

Ataxia-Telangiectasia Presenting as Tremor-Predominant Syndrome in an Adult Patient without Ataxia and Telangiectasias. [PDF]

Mov Disord Clin Pract
Genovese D, Di Lazzaro G, Pomponi MG, Tiziano FD, Cassano I, Cimmino AT, Petracca M, Calabresi P, Bentivoglio AR.   +8 more
europepmc   +1 more source

Ataxia-telangiectasia mutated kinase inhibition overcomes gemcitabine resistance in intrahepatic cholangiocarcinoma via DNA ligase I-dependent repair vulnerability. [PDF]

Cancer Gene Ther
Lin SH, Pan YR, Hung TH, Huang WK, Yeh CN.   +4 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

ATM deficiency drives phenotypic diversity and Purkinje cell degeneration in a macaque model of ataxia-telangiectasia. [PDF]

Cell Rep Med
Xu K, Zhang Y, Chen Y, Zhu X, Li Y, Lv L, He X, Hu Z, Li Y, Ye M, Jiang D, He Z, Jin W, Li Y, Yu X, Zhang DF, Herrup K, Zheng P, Yao YG, Wu DD, Li J.   +20 more
europepmc   +1 more source