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Alterations in the carnitine cycle in a mouse model of Rett syndrome

Rett syndrome (RTT) is a neurodevelopmental disease that leads to intellectual deficit, motor disability, epilepsy and increased risk of sudden death. Although in up to 95% of cases this disease is caused by de novo loss-of-function mutations in the X-linked methyl-CpG binding protein 2 gene, it is...

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Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Mucerino, Sabrina, Di Salle, Anna, Alessio, Nicola, Margarucci, Sabrina, Nicolai, Raffaella, Melone, Mariarosa A. B., Galderisi, Umberto, Peluso, Gianfranco
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2017
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5288798/
https://ncbi.nlm.nih.gov/pubmed/28150739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep41824
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