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Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay

Human startle disease is associated with mutations in distinct genes encoding glycine receptors, transporters or interacting proteins at glycinergic synapses in spinal cord and brainstem. However, a significant number of diagnosed patients does not carry a mutation in the common genes GLRA1, GLRB, a...

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Detalles Bibliográficos
Autores principales:	Drehmann, Paul, Milanos, Sinem, Schaefer, Natascha, Kasaragod, Vikram Babu, Herterich, Sarah, Holzbach-Eberle, Ulrike, Harvey, Robert J., Villmann, Carmen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Society for Neuroscience 2023
Materias:	Research Article: New Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668224/ https://www.ncbi.nlm.nih.gov/pubmed/37903619 http://dx.doi.org/10.1523/ENEURO.0263-23.2023

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