Results 91 to 100 of about 30,315 (187)

Case Report: Neuro-Imaging Findings in Ataxia Telangiectasia

Journal of Rehabilitation, 2004
Ataxia Telangiectasia (AT) is an autosomal recessive inherited disorder in which cutaneous and scleral Telangiectasia, cerebellar ataxia and immunodeficiency occur.
Farhad Mahvelati, Seyyed Hossein Tonekaboni   +1 more
doaj  

Ataxia-telangiectasia syndrome

Pediatrics & Neonatology, 2022
Joana Fortuna, Ana Luisa Rodrigues, Paula Pires   +2 more
openaire   +2 more sources

Ataxia-telangiectasia: future prospects

The Application of Clinical Genetics, 2014
Mohammed Wajid Chaudhary, Raidah Saleem Al-Baradie Pediatric Neurology, Neurosciences Centre, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia Abstract: Ataxia-telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by
Chaudhary MW, Al-Baradie RS
doaj  

Eye in ataxia telangiectasia

BMJ Case Reports, 2023
Uddalak Chakraborty, Atanu Chandra, Sugata Dasgupta   +2 more
openaire   +2 more sources

Familial Ataxia-telangiectasia [PDF]

Archives of Disease in Childhood, 1961
J D, Pickup, R J, Pugh
openaire   +2 more sources

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

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