Results 151 to 160 of about 65,541 (228)

MRI and Biomarkers in Early Detection of Pulmonary Changes in Ataxia-Telangiectasia. [PDF]

Med Sci Monit
Grzywa-Czuba R, Dmeńska H, Jurkiewicz E, Gregorek H, Pietrucha B.   +4 more
europepmc   +1 more source

Nutritional status and metabolic alterations in patients with ataxia-telangiectasia. [PDF]

Orphanet J Rare Dis
de Leon CDA, Amantea SL, Pereira RA, Dantas EO, Loekmanwidjaja J, Costa-Carvalho BT, Mazzucchelli JTL, Aranda CS, González-Serrano ME, De La Cruz Córdoba EA, Bezrodnik L, Moreira I, Ferreira JFS, Dantas VM, Sales VSF, Navarrete CL, Vilela MMS, Motta IP, Franco JL, Arango JCO, Álvarez-Álvarez JA, Cardozo LRR, Orellana JC, Condino-Neto A, Kokron CM, Barros MT, Regairaz L, Cabanillas D, Suarez CLN, Rosario NA, Chong-Neto HJ, Takano OA, Nadaf MISV, Moraes LSL, Tavares FS, Rabelo F, Pino J, Calderon WC, Mendoza-Quispe D, Goudouris ES, Patiño V, Montenegro C, Souza MS, Castelo Branco ABXC, Forte WCN, Carvalho FAA, Segundo G, Cheik MFA, Roxo-Junior P, Peres M, Oliveira AM, Neto ACP, Ortega-López MC, Lozano A, Lozano NA, Nieto LH, Grumach AS, Costa DC, Antunes NMN, Nudelman V, Pereira CTM, Martinez MDM, Quiroz FJR, Cardona AA, Nuñez-Nuñez ME, Rodriguez JA, Cuellar CM, Vijoditz G, Bichuetti-Silva DC, Prando CCM.   +69 more
europepmc   +1 more source

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

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

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

EBioMedicine
Onodera O.
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

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