Results 181 to 190 of about 54,068 (228)

Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosis. [PDF]

EBioMedicine
Lynch M, Manoy S, Sly PD, Wainwright CE, Wolvetang E, Feenstra JE, Dowling J, Ware RS, Patel MS, Hermith-Ramirez D, Vogel A, Preece K, Zappala T, Dai S, Webber A, Yeo A, Subramanian G, Rao G, Ma CS, Jose S, Gatei M, Xin B, Sandona N, Lewindon P, Sinclair KG, Nayler S, Lavin MF, Coman DJ.   +27 more
europepmc   +1 more source

Primary Immunodeficiency-Type Ataxia-Telangiectasia Revealed by Splenic Abscesses. [PDF]

Cureus
Bebana A, Ghanam A, Tkak H, Elouali A, Babakhouya A, Rkain M.   +5 more
europepmc   +1 more source

Disruption of ataxia telangiectasia-mutated kinase enhances radiation therapy efficacy in spatially directed diffuse midline glioma models. [PDF]

J Clin Invest
Mangoli A, Valentine V, Maingi SM, Wu SR, Liu HQ, Aksu M, Jain V, Foreman BE, Regal JA, Weidenhammer LB, Stewart CE, Guerra Garcia ME, Hocke E, Abramson K, Michaeli TF, Williams NT, Luo L, Romero M, Deland K, Gadd S, Uchida E, Attardi L, Abe K, Hashizume R, Ashley DM, Becher OJ, Kirsch DG, Gregory SG, Reitman ZJ.   +28 more
europepmc   +1 more source

Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia. [PDF]

Front Neurol
Koenig MK, Leuzzi V, Gouider R, Yiu EM, Pietrucha B, Stray-Pedersen A, Perlman SL, Wu S, Burgers T, Borgohain R, Kandadai RM, Meyts I, Bucciol G, Udwadia-Hegde A, Yadav R, Roberts D, Dane A, Roden M, Thye D, Horn B, Lederman HM, Whitehouse WP.   +21 more
europepmc   +1 more source

ATAXIA-TELANGIECTASIA.

The Turkish journal of pediatrics, 1996
openaire   +1 more source

Ataxia telangiectasia.

Indian pediatrics, 2000
V, Datta, P, Chaturvedi
openaire   +1 more source

Correction: Ionizing radiation induces ataxia telangiectasia mutated kinase (ATM)-mediated phosphorylation of LKB1/STK11 at Thr-366. [PDF]

Biochem J
europepmc   +1 more source

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Ataxia-Telangiectasia

Dermatologic Clinics, 1995
Abstract Abstract SCI-7 Ataxia-telangiectasia (A-T) is the prototype for an expanded group of inherited radiation sensitive disorders that together define the XCIND syndrome: x-ray hypersensitivity, cancer, immunodeficiency, neurological dysfunction, and DNA repair deficiency.
Amy S. Paller, Michael Swift
openaire   +3 more sources

Ataxia Telangiectasia

Archives of Neurology, 1978
Ataxia telangiectasia has been described as a single-gene autosomal recessive disorder. It affects multiple systems. Several attempts to present an etiological hypothesis that will account for the multisystem involvement have been made. Those reviewed haer are (1) aberration of inductive signaling, which is predicted on a deficient mesoderm, leading to
openaire   +4 more sources

ATAXIA-TELANGIECTASIA

Pediatrics, 1957
This paper based on eight cases and a necropsy report presents a familial symptom complex speaking strongly for a syndrome entity, for which the term ataxiatelangiectasia was proposed by the authors in a preliminary report. The main features are progressive cerebellar ataxia with onset in infancy; progressive telangiectasia of the bulbar conjunctivae ...
E Boder, R P Sedgwick
openaire   +1 more source