… from "classical" with severe childhood-onset cerebellar ataxia, … with atypical or milder
adult-onset presentations may remain … Milder or unspecific neurological phenotypes such as …

… of ATM in cellular homeostasis and relate these functions to the complex AT phenotype. …
The mechanism is not understood but does not appear to be due to a classical dominant …

… -related classical characteristics are presented on Table I. … activation, antibody dependent
cellular toxicity, opsonization and … oculocutaneous telangiectasia as well as forms with adult …

… which usually start in childhood or early adult life. They can be … of the most frequent SCARs
and their phenotypic features. … cases presenting with a predominant ataxia phenotype. (C–E…

… −/− uterus was hypoplastic but presented typical structure of the … However, the cerebellar
phenotype and the thymic lesions … We speculate that the morbidity of this adult ATM −/− pig was …

… memory T cell compartment in five patients with classical AT … resulting in a milder form of the
disease, often with adult onset (1)… is consistent with the phenotype of stem cell memory cells, …

… protein on Western blot have a mild neurologic phenotype. … with AT with abnormal liver
enzymes is presented in Table 2. … Studies in adults suggest that a subgroup of patients with …

… ) and alpha fetoprotein (for Ataxia Telangiectasia or AT) are … primarily sensory ataxia, over
time it evolves to a phenotype in … the adult level at birth, but usually reaches the adult range …

… of ataxic disease that mainly affects adults. It discusses the main processes that cause …
variations cause milder phenotype [17]. Ataxia telangiectasia patients have much milder clinical …

… of DNA-PKcs, mainly based on the phenotypes of DNA-PKcs-… of mature lymphocytes was
normal, although a mild defect in … thought more susceptible to errors than classical NHEJ [124]. …