Results 191 to 200 of about 54,068 (228)
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Neurologic Clinics, 1987
Ataxia-telangiectasia is an autosomal recessive disorder characterized by early ataxia, oculocutaneous telangiectasias, sinopulmonary infections, selective immunodeficiency, and a high risk of malignancy. The appearance of the telangiectasias often allows the diagnosis to be made in a child with ataxia.
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Ataxia-telangiectasia is an autosomal recessive disorder characterized by early ataxia, oculocutaneous telangiectasias, sinopulmonary infections, selective immunodeficiency, and a high risk of malignancy. The appearance of the telangiectasias often allows the diagnosis to be made in a child with ataxia.
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Movement Disorders, 1993
AbstractAtaxia telangiectasia (AT) is an autosomal recessive hereditary disorder characterized by onset in infancy or childhood of a cerebellar and later extrapyramidal disorder associated with telangiectasias and an immune deficit. Only a handful of cases have been described in which the features were not stereotypic. This report describes a case that
J H, Friedman, A, Weitberg
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AbstractAtaxia telangiectasia (AT) is an autosomal recessive hereditary disorder characterized by onset in infancy or childhood of a cerebellar and later extrapyramidal disorder associated with telangiectasias and an immune deficit. Only a handful of cases have been described in which the features were not stereotypic. This report describes a case that
J H, Friedman, A, Weitberg
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2006
Abstract Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency, and ocular and cutaneous telangiectasia. A-T has proven a fascinating but elusive subject of investigation since its first description 80 years ago (Syllaba and Henner, 1926).
Martin F Lavin, Yosef Shiloh
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Abstract Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency, and ocular and cutaneous telangiectasia. A-T has proven a fascinating but elusive subject of investigation since its first description 80 years ago (Syllaba and Henner, 1926).
Martin F Lavin, Yosef Shiloh
openaire +2 more sources