A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study

Mutations in creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CTD), an orphan neurodevelopmental disorder presenting with brain Cr deficiency, intellectual disability, seizures, movement and autistic-like behavioral disturbances, language and speech impairment. W...

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Detalles Bibliográficos
Autores principales: Molinaro, Angelo, Alessandrì, Maria Grazia, Putignano, Elena, Leuzzi, Vincenzo, Cioni, Giovanni, Baroncelli, Laura, Pizzorusso, Tommaso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329805/
https://www.ncbi.nlm.nih.gov/pubmed/30635645
http://dx.doi.org/10.1038/s41598-018-37303-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329805/
https://www.ncbi.nlm.nih.gov/pubmed/30635645
http://dx.doi.org/10.1038/s41598-018-37303-1

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