Adult diagnosis of Cockayne syndrome.

Cocco, Antoniangela; Calandrella, Daniela; Carecchio, Miryam; Garavaglia, Barbara; Albanese, Alberto

Cocco, Antoniangela; Calandrella, Daniela; Carecchio, Miryam; Garavaglia, Barbara; Albanese, Alberto.

Afiliação

Cocco A; From the Department of Neurology (A.C., D.C., A.A.), IRCCS Humanitas Research Hospital and University, Rozzano, Milan; Department of Neuroscience (M.C.), University of Padua; Medical Genetics and Neurogenetics Unit (B.G.), IRCCS Carlo Besta Neurological Institute; and Department of Neurology (A.A.),
Calandrella D; From the Department of Neurology (A.C., D.C., A.A.), IRCCS Humanitas Research Hospital and University, Rozzano, Milan; Department of Neuroscience (M.C.), University of Padua; Medical Genetics and Neurogenetics Unit (B.G.), IRCCS Carlo Besta Neurological Institute; and Department of Neurology (A.A.),
Carecchio M; From the Department of Neurology (A.C., D.C., A.A.), IRCCS Humanitas Research Hospital and University, Rozzano, Milan; Department of Neuroscience (M.C.), University of Padua; Medical Genetics and Neurogenetics Unit (B.G.), IRCCS Carlo Besta Neurological Institute; and Department of Neurology (A.A.),
Garavaglia B; From the Department of Neurology (A.C., D.C., A.A.), IRCCS Humanitas Research Hospital and University, Rozzano, Milan; Department of Neuroscience (M.C.), University of Padua; Medical Genetics and Neurogenetics Unit (B.G.), IRCCS Carlo Besta Neurological Institute; and Department of Neurology (A.A.),
Albanese A; From the Department of Neurology (A.C., D.C., A.A.), IRCCS Humanitas Research Hospital and University, Rozzano, Milan; Department of Neuroscience (M.C.), University of Padua; Medical Genetics and Neurogenetics Unit (B.G.), IRCCS Carlo Besta Neurological Institute; and Department of Neurology (A.A.),

Neurology ; 93(19): 854-855, 2019 11 05.

Article em En | MEDLINE | ID: mdl-31685704

Assuntos

Síndrome de Cockayne/diagnóstico por imagem; Síndrome de Cockayne/genética; Síndrome de Cockayne/fisiopatologia; DNA Helicases/genética; Enzimas Reparadoras do DNA/genética; Feminino; Humanos; Imageamento por Ressonância Magnética; Proteínas de Ligação a Poli-ADP-Ribose/genética; Tomografia Computadorizada por Raios X; Adulto Jovem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Cockayne Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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