An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.

Ferrini, Arianna; Steel, Dora; Barwick, Katy; Kurian, Manju A

Ferrini, Arianna; Steel, Dora; Barwick, Katy; Kurian, Manju A.

Afiliação

Ferrini A; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, United Kingdom.
Steel D; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, United Kingdom.
Barwick K; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
Kurian MA; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, United Kingdom.

Mov Disord ; 36(5): 1104-1114, 2021 05.

Article em En | MEDLINE | ID: mdl-33934385

Assuntos

Discinesias; Distúrbios Distônicos; Transtornos dos Movimentos; Adenilil Ciclases/genética; Distúrbios Distônicos/genética; Genótipo; Humanos; Fenótipo

Palavras-chave

ADCY5; dyskinesia; hyperkinesia; movement disorder; precision medicine

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / Discinesias / Transtornos dos Movimentos Limite: Humans Idioma: En Revista: Mov Disord Ano de publicação: 2021 Tipo de documento: Article

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