Results 151 to 160 of about 77,321 (235)

Case Reports A case of ataxia telangiectasia

, 2014
Ataxia telangiectasia (AT) is an autosomal recessive, complex, multisystem disorder characterized by progressive neurological impairment, cerebellar ataxia ...
S Jeyabalan, Savithri Dias
core  

Fulminant disseminated histoplasmosis in a pediatric patient with ataxia-telangiectasia and autoimmune hepatitis: A diagnostic and therapeutic challenge. [PDF]

IDCases
Loredo Paz LE, Pineda Velasquez AM, Rodríguez Rosales MR, Rivera Molina SE, Miralda Méndez ST.   +4 more
europepmc   +1 more source

Clinical and therapeutic impact of newborn screeningbased early detection of ataxia-telangiectasia. [PDF]

Haematologica
Ricci S, Barbati F, Boccieri E, Quagliarella F, Canessa C, Quaranta F, Pelosi C, Lodi L, Azzari C, Locatelli F.   +9 more
europepmc   +1 more source

In Silico Drug Repositioning Identifies SYK Kinase Inhibitors as Potential Neuroprotective Agents for Ataxia-Telangiectasia. [PDF]

Chem Biol Drug Des
Romano A, Buccheri R, Zagni C, Rescifina A.   +3 more
europepmc   +1 more source

Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis. [PDF]

Front Pediatr
Song H, Lin Y, Xian Y.
europepmc   +1 more source

Prevalence of Vitamin D Deficiency in Ataxia-Telangiectasia: A Systematic Review and Single Arm Meta-Analysis. [PDF]

Cerebellum
Iqbal MJ, Azhar M, Javaid H, Hassan A, Masood A, Menotta M.   +5 more
europepmc   +1 more source

Transcriptional Profiling Shows Dampening of Interferon Gene Signatures by NAD⁺ Augmentation in Ataxia-Telangiectasia. [PDF]

Int J Mol Sci
Suaste V, Presterud R, Wennerström AB, Wang HL, Zhang J, Lund SO, Holmen HG, Lüders T, Rowe A, Berge RK, Lirussi L, Lefol Y, Alsøe L, Fang EF, Stray-Pedersen A, Nilsen HL.   +15 more
europepmc   +1 more source

Ophthalmic and Oculomotor Characteristics in Ataxia-Telangiectasia: A Clinical Cohort Study using Video-Oculography. [PDF]

Ophthalmic Physiol Opt
Webber AL, Abel L, Neilson HR, Coman D, Lavin M, Lynch M, Ware RS, Dai S.   +7 more
europepmc   +1 more source

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