Results 11 to 20 of about 77,321 (235)
Stem Cell Research, 2021 Ataxia Telangiectasia is a rare autosomal recessive disorder caused by a mutated ATM gene. The most debilitating symptom of Ataxia Telangiectasia is the progressive neurodegeneration of the cerebellum, though the molecular mechanisms driving this ...
Hannah C. Leeson +5 more
doaj +2 more sources
Infections in Ataxia-Telangiectasia
Pediatric Neurology Briefs, 2004 Immunodeficiency and infections were determined in 100 consecutive patients with ataxia-telangiectasia (A-T) seen at the Johns Hopkins Ataxia-Telangiectasia Clinical Center.
J Gordon Millichap
doaj +2 more sources
Seminars in Pediatric Neurology, 1998 The cloning of ATM in 1995, the gene responsible for ataxia-telangiectasia, opened a dimension of biological research that is as complex and intriguing to cell biologists as this classic disorder has been to clinicians for four decades. The phenotype is both variable and stereotyped, with significant differences between patients in the rate of ...
Huret, JL, JL Huret
openaire +3 more sources
Pediatric Neurology Briefs, 1990 The proportion of T-cell antigen receptors in ten patients with ataxia-telangiectasia were compared with normal subjects and patients with other immune deficits at the Departments of Clinical Immunology and Pediatrics, University of Rome, “la Sapienza ...
J Gordon Millichap
doaj +2 more sources
Arquivos de Neuro-Psiquiatria, 1966 São apresentados os casos de dois irmãos com ataxia-telangiectasia, estudados sob os pontos de vista clínico, eletrencefalográfico, liquórico e encefalográfico.
Nelson Pires Ferreira
doaj +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 +1 more source
Proceedings of the Royal Society of Medicine, 1970 The clinical history and pathological findings in a case of ataxia‐telangiectasia are reported.Clinically the case showed characteristic neurological manifestations and telangiectases with frequent respiratory infections. Absence of IgA immunoglobulins was demonstrated.
R, Tattersall, P J, Toghill
+7 more sources
Ataxia-telangiectasia mutated plays an important role in cerebellar integrity and functionality
Neural Regeneration Research, 2023 Accumulating evidence indicates that ataxia-telangiectasia mutated kinase is critical for maintaining cellular homeostasis and that it has both nuclear and cytoplasmic functions. However, the functions of ataxia-telangiectasia mutated that when lost lead
Yulia Mitiagin, Ari Barzilai
doaj +1 more source
Dopa-Responsive dystonia: An early presentation of ataxia-telangiectasia
Annals of Indian Academy of Neurology, 2022 Ataxia-telangiectasia (AT) is a complex genetic neurodegenerative disease with autosomal recessive inheritance. The typical initial features of ataxia telangiectasia include ataxia, cutaneous telangiectasia, and immune deficiency with recurrent ...
Anshita Arora +3 more
doaj +1 more source