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Clinical Phenotypes Associated to Engrailed 2 Gene Alterations in a Series of Neuropediatric Patients

Autor: Francisco Carratala-Marco, Patricia Andreo-Lillo, Marta Martinez-Morga, Teresa Escamez-Martínez, Arancha Botella-López, Carlos Bueno, Salvador Martinez

Publikováno v: Frontiers in Neuroanatomy, Vol 12 (2018)

The engrailed homeobox protein (EN) plays an important role in the regionalization of the neural tube. EN distribution regulates the cerebellum and midbrain morphogenesis, as well as retinotectal synaptogenesis. In humans, the EN1 and EN2 genes code

Externí odkaz: https://doaj.org/article/f1f4cbd57226464c9dca4ae6b75f2ebe

Elevated Plasma Reelin Levels in Children With Autism

Autor: Cuchillo-Ibáñez I, Andreo-Lillo P, Pastor-Ferrándiz L, Carratalá-Marco F, Sáez-Valero J

Publikováno v: Frontiers in Psychiatry
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
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r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders involving age-dependent gene dysregulation. Reelin is a glycoprotein that varies its expression throughout lifetime and controls cortical patterning and synaptogenesis. Brain a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2e42b3463129df0989b68b7bbaae4b8b
https://fundanet.isabial.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8768

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Autistic spectrum disorders (ASD), disruptive behaviours and abnormal EEGs. Should we use antiepileptic drugs (ADs)?

Autor: Carratala-Marco, F., Andreo-Lillo, P., García-Navarro, M., Pastore-Olmedo, C., Barragan-Ortiz, J., Fenollar-Ivañez, F.

Publikováno v: European Journal of Paediatric Neurology; Jun2017 Supplement 1, Vol. 21, pe103-e104, 1p