Results 11 to 20 of about 35,381 (234)
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
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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
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Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia
NeuroImage: Clinical, 2020 Background: Ataxia Telangiectasia (A-T) is an inherited multisystem disorder with cerebellar neurodegeneration. The relationships between imaging metrics of cerebellar health and neurological function across childhood in A-T are unknown, but may be ...
Rob A Dineen +9 more
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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
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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
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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
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Ataxia-telangiectasia-like disorder-1 with ocular telangiectasia — A rare case report from India
Annals of Movement DisordersAtaxia-telangiectasia-like disorder-1 (ATLD-1) is an autosomal recessive disorder that is classified as a chromosomal instability syndrome. It is caused by the homozygous or compound heterozygous variants of the MRE11 gene, which repairs the double ...
Anjali Chouksey
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New England Journal 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, Hong, A J, Ammann
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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
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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
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