Results 151 to 160 of about 53,969 (208)

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

Hypoxia facilitates triple-negative breast cancer stem cells enrichment and stemness maintenance through oxidized ataxia telangiectasia mutated-induced one-carbon metabolism. [PDF]

World J Stem Cells
Yang D, Ou YL, Wang SH, Jin HJ, Chen SH, Han R, Zhang H.   +6 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

Novel Ataxia Telangiectasia and Rad3-Related Protein (ATR) Phenotype: Marfanoid Appearance, Generalized Hypermobility, Gait Imbalance, and Poor Wound Healing: A Case Report. [PDF]

Cureus
Sadler ZA, Unger MD.
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

Pioglitazone as a Possible Treatment for Ataxia-Telangiectasia. [PDF]

Biomolecules
Shackelford R.
europepmc   +1 more source

Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes. [PDF]

Orphanet J Rare Dis
Bakır DB, Atay Ö, Yağmur H, Kabadayı G, Kocabey M, Asilsoy S, Uzuner N.   +6 more
europepmc   +1 more source