Results 1 to 10 of about 53,382 (220)

Novel genetic variants identification and immune profiling in ataxia telangiectasia patients. [PDF]

J Transl Med
Jenni R, Klaa H, Chikhaoui A, Zayoud K, Cochet E, Kraoua I, Burglen L, Yacoub-Youssef H.   +7 more
europepmc   +1 more source

When the unexpected strikes: hepatocellular carcinoma in a teen with ataxia-telangiectasia. [PDF]

Oxf Med Case Reports
Alesaeidi S, Alavi S, Chavoshzadeh Z, Kazemi Aghdam M, Khalili M, Dastmalchi F.   +5 more
europepmc   +1 more source

Targeting the FNIP2-SERCA2b axis improves metabolic and mitochondrial defects in Ataxia Telangiectasia. [PDF]

Cell Death Dis
Vinciguerra M, El Kharef C, Bruhn C, Falbo L, Milanese C, Audano M, Beznoussenko GV, Mironov AA, Delia D, Foiani M, Mastroberardino PG, Mitro N, Costanzo V.   +12 more
europepmc   +1 more source

Long-Term Follow-Up for Child with Ataxia Telangiectasia Related Scoliosis Using Surface Topography: A Case Report. [PDF]

Reports (MDPI)
Wagner B, Thiessen A, Liu XC.
europepmc   +1 more source

Ataxia-Telangiectasia in Resource-Limited Settings: A Diagnostic Challenge. [PDF]

Cureus
Adeyemi E, Idowu R, Adefolaji A, Adeyemi F, Olowoyo P.   +4 more
europepmc   +1 more source

Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report. [PDF]

BMC Med Genomics
Gu C, Cui Q, Luo W, Zhang S, Shu J, Chen S.   +5 more
europepmc   +1 more source

Computational modeling of ATM signaling: a predictive framework for drug repurposing in ataxia-telangiectasia. [PDF]

NPJ Syst Biol Appl
Merulla AE, Di Salvatore V, Gullotta GS, Maleki A, Russo G, Caraci F, Copani A, Pappalardo F.   +7 more
europepmc   +1 more source

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

Eye in ataxia telangiectasia. [PDF]

BMJ Case Rep, 2023
Chakraborty U, Chandra A, Dasgupta S.
europepmc   +1 more source