2024年3月6日 · Ataxia-telangiectasia (A-T) is a rare inherited form of autosomal recessive neurodegenerative ataxia with onset in early childhood. Clinically, this syndrome manifests a …

Ataxia–telangiectasia like disorder (ATLD) is an extremely rare condition, caused by mutation in the hMre11 gene, that could be considered in the differential diagnosis of A–T. Patients with …

ATM serine/threonine kinase or Ataxia-telangiectasia mutated, symbol ATM, is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks (canonical …

2022年7月6日 · Ataxia-telangiectasia (A-T), also known as Louis-Bar Syndrome, is a rare genetic condition that targets the nervous system, immune system and other systems throughout your …

What causes ataxia-telangiectasia (A-T)? Changes (mutations) in the ATM gene on chromosome 11 cause A-T. Both parents must have and pass on the mutated ATM gene for their child to …

Variants (also called mutations) in the ATM gene cause ataxia-telangiectasia. The ATM gene provides instructions for making a protein that helps control cell division and is involved in DNA …

1999年3月19日 · Classic A-T is characterized by childhood onset of progressive neurologic manifestations (initially cerebellar ataxia, followed typically by extrapyramidal involvement and …

Ataxia telangiectasia (AT) is a rare disease characterized by the early onset and slow progression of neurodegenerative defects, mainly affecting the cerebellum, associated with …

Introduction: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, variable immunodeficiency, …

Ataxia-telangiectasia is caused by mutations in the gene that encodes ataxia-telangiectasia–mutated (ATM) protein. ATM is involved in detection of DNA damage and helps …