Results 11 to 20 of about 65,541 (228)
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 +4 more sources
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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Ataxia telangiectasia: a review [PDF]
Orphanet Journal of Rare Diseases, 2016 Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity.
Cynthia Rothblum-Oviatt +5 more
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Seminars in Pediatric Neurology, 1998 Review on Ataxia telangiectasia, with data on clinics, and the genes ...
Huret, JL, JL Huret
core +3 more sources
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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Sarcoidosis-like Skin Lesions as the First Manifestation of Ataxia-Telangiectasia [PDF]
ChildrenAtaxia-telangiectasia is a rare autosomal recessive disorder that is difficult to diagnose due to its unpredictable presentation. It is characterized by cerebellar degeneration, telangiectasias, immunodeficiency, frequent pulmonary infections, and tumors.
Borko Milanovic +6 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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Arquivos de Neuro-Psiquiatria, 2015 Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by a mutation in the ATM gene encoding for the ATM protein. AT systemic manifestations include cutaneous telangiectasias, radiosensitivity, immune deficiency with recurrent sinopulmonary infections, and a tendency to develop lymphoid malignancies.
Letícia Sauma +2 more
doaj +7 more sources
A 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen [PDF]
Clinical Medicine Insights: Case ReportsBackground: Ataxia telangiectasia (A-T) is an uncommon autosomal recessive disorder, affecting 1 to 2 individuals per 100 000 live births. It results from mutations in the ATM gene.
Maher Muneer +8 more
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