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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Veggiotti, Pierangelo;Marseglia, Gian Luigi;Savasta, Salvatore;
2019-01-01
2019
Medical Research, General Topics covers a wide array of topics in medical and biomedical research, with a specific emphasis on human disease, human tissues, and all levels of research into the pathogenesis of clinically significant conditions. Specific medical fields that are characterized by the inclusion of material from several other specializations are also covered here; these include general and internal medicine, tropical medicine, pediatrics, gerontology, epidemiology, and public health. Resources dealing with specific clinical interventions are excluded and are placed in the Medical Research: Diagnosis & Treatment category. Resources that emphasize the specific disease types, or specific systems affected are also excluded and are categorized according to the pathogen or system pathophysiology.
AMERICAN JOURNAL OF HUMAN GENETICS
sì
WOS:000463474700012
2-s2.0-85063684737
Esperti anonimi
Inglese
Internazionale
ELETTRONICO
104
4
721
730
10
30929742
autism; epilepsy; movement disorders; neurodevelopmental disorders; neuronal exocytosis; SNARE; synaptobrevin; synaptopathy; VAMP2; vesicle fusion; Genetics; Genetics (clinical)
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#description
sì
76
info:eu-repo/semantics/article
262
Salpietro, Vincenzo; Malintan, Nancy T.; Llano-Rivas, Isabel; Spaeth, Christine G.; Efthymiou, Stephanie; Striano, Pasquale; Vandrovcova, Jana; Cutrup...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1344487
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