The 4H syndrome due to RNF216 mutation.

Ganos, Christos; Hersheson, Joshua; Adams, Matthew; Bhatia, Kailash P; Houlden, Henry

Ganos, Christos; Hersheson, Joshua; Adams, Matthew; Bhatia, Kailash P; Houlden, Henry.

Afiliação

Ganos C; Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, United Kingdom; Department of Neurology, University Medical Center Hamburg-Eppendorf (UKE), Hamburg, Germany. Electronic address: cganos@gmail.com.
Hersheson J; Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom; MRC Centre for Neuromuscular Diseases, University College London, London, United Kingdom.
Adams M; Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
Bhatia KP; Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, United Kingdom.
Houlden H; Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom; MRC Centre for Neuromuscular Diseases, University College London, London, United Kingdom.

Parkinsonism Relat Disord ; 21(9): 1122-3, 2015 Sep.

Article em En | MEDLINE | ID: mdl-26250479

Assuntos

Ataxia Cerebelar/genética; Doenças Autoimunes Desmielinizantes do Sistema Nervoso Central/genética; Hipogonadismo/genética; Hipotonia Muscular/genética; Mutação/genética; Ubiquitina-Proteína Ligases/genética; Adulto; Ataxia Cerebelar/complicações; Doenças Autoimunes Desmielinizantes do Sistema Nervoso Central/complicações; Humanos; Hipogonadismo/complicações; Imageamento por Ressonância Magnética; Masculino; Hipotonia Muscular/complicações

Palavras-chave

4H syndrome; Cerebellar ataxia; Hypogonadotropic hypogonadism; RNF216

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Doenças Autoimunes Desmielinizantes do Sistema Nervoso Central / Ubiquitina-Proteína Ligases / Hipogonadismo / Hipotonia Muscular / Mutação Limite: Adult / Humans / Male Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2015 Tipo de documento: Article

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