Results 121 to 130 of about 115,141 (275)
"ATM Gene Mutations Detection in Iranian Ataxia-Telangiectasia Patients "
Ataxia-Telangiectasia (AT) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition.
Toshio MiyawakiMohammad Hossein Sanati +6 more
doaj
Ataxia-telangiectasia syndrome
Joana Fortuna +2 more
openaire +2 more sources
Supplementary Figure Legends 1-2 from Inhibition of Ataxia Telangiectasia Mutated Kinase Activity Enhances TRAIL-Mediated Apoptosis in Human Melanoma Cells [PDF]
Vladimir N. Ivanov +3 more
openalex +1 more source
Case Report: Neuro-Imaging Findings in Ataxia Telangiectasia
Ataxia Telangiectasia (AT) is an autosomal recessive inherited disorder in which cutaneous and scleral Telangiectasia, cerebellar ataxia and immunodeficiency occur.
Farhad Mahvelati +1 more
doaj
Clinical and genetic analysis of a case series of 12 Chinese families with hereditary ataxia
Background and objectiveHereditary ataxia (HA) encompasses a diverse group of neurological disorders characterized by significant clinical and genetic heterogeneity. This case series study aims to present a case series of HA from Southwest China, thereby
Liqi Guo +7 more
doaj +1 more source
Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review [PDF]
Zhijun Liu, Yaling Wang, Yan Xu
openalex +1 more source

