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2009 (v1)PublicationUploaded on: March 25, 2023
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2017 (v1)Publication
Synapsins (Syns) are synaptic vesicle-associated phosphoproteins involved in neuronal development and neurotransmitter release. While Syns are implicated in the regulation of brain-derived neurotrophic factor (BDNF)-induced neurotransmitter release, their role in the BDNF developmental effects has not been fully elucidated. By using primary...
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2008 (v1)Publication
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2010 (v1)Publication
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2011 (v1)Publication
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2012 (v1)Publication
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2012 (v1)Publication
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2013 (v1)Publication
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2016 (v1)Publication
Proline-rich transmembrane protein 2 (PRRT2) has been identified as the single causative gene for a group of paroxysmal syndromes of infancy, including epilepsy, paroxysmal movement disorders, and migraine. On the basis of topology predictions, PRRT2 has been assigned to the recently characterized family of Dispanins, whose members share the...
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2017 (v1)Publication
RAB-GDP dissociation inhibitor 1 (GDI1) loss-of-function mutations are responsible for a form of non-specific X-linked Intellectual Disability (XLID) where the only clinical feature is cognitive impairment. GDI1 patients are impaired in specific aspects of executive functions and conditioned response, which are controlled by fronto-striatal...
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2014 (v1)Publication
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2014 (v1)Publication
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2014 (v1)Publication
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