Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition.

Siegert, Sandy; Schmidt, Wolfgang M; Pletschko, Thomas; Bittner, Reginald E; Gobara, Sonja; Freilinger, Michael

Siegert, Sandy; Schmidt, Wolfgang M; Pletschko, Thomas; Bittner, Reginald E; Gobara, Sonja; Freilinger, Michael.

Afiliação

Siegert S; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria.
Schmidt WM; Neuromuscular Research Department, Medical University of Vienna, Austria.
Pletschko T; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria.
Bittner RE; Neuromuscular Research Department, Medical University of Vienna, Austria.
Gobara S; Ambulatorium Sonnenschein, Sozialpädiatrisches Zentrum, St. Pölten, Austria.
Freilinger M; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria.

Neuropediatrics ; 52(5): 377-382, 2021 10.

Article em En | MEDLINE | ID: mdl-33511595

Assuntos

Distonia; Distúrbios Distônicos; Criança; Cognição; Distonia/genética; Distúrbios Distônicos/genética; Feminino; Hipocalcina/genética; Hipocalcina/metabolismo; Humanos; Mutação

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / Distonia Tipo de estudo: Risk_factors_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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