ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic m...

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Detalles Bibliográficos
Autores principales: Carecchio, Miryam, Mencacci, Niccolò E., Iodice, Alessandro, Pons, Roser, Panteghini, Celeste, Zorzi, Giovanna, Zibordi, Federica, Bonakis, Anastasios, Dinopoulos, Argyris, Jankovic, Joseph, Stefanis, Leonidas, Bhatia, Kailash P., Monti, Valentina, R'Bibo, Lea, Veneziano, Liana, Garavaglia, Barbara, Fusco, Carlo, Wood, Nicholas, Stamelou, Maria, Nardocci, Nardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Science 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5549507/
https://www.ncbi.nlm.nih.gov/pubmed/28511835
http://dx.doi.org/10.1016/j.parkreldis.2017.05.004

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