0000000000959269

AUTHOR

Michel D Ferrari

showing 3 related works from this author

Supplemental material for Non-invasive vagus nerve stimulation (nVNS) for the preventive treatment of episodic migraine: The multicentre, double-blin…

2019

Supplemental Material for Non-invasive vagus nerve stimulation (nVNS) for the preventive treatment of episodic migraine: The multicentre, double-blind, randomised, sham-controlled PREMIUM trial by Hans-Christoph Diener, Peter J Goadsby, Messoud Ashina, Mohammad Al-Mahdi Al-Karagholi, Alexandra Sinclair, Dimos Mitsikostas, Delphine Magis, Patricia Pozo-Rosich, Pablo Irimia Sieira, Miguel JA Làinez, Charly Gaul, Nicholas Silver, Jan Hoffmann, Juana Marin, Eric Liebler, Michel D Ferrari and on behalf of the PREMIUM Study Group in Cephalalgia

FOS: PsychologyFOS: Clinical medicine170199 Psychology not elsewhere classified110319 Psychiatry (incl. Psychotherapy)110306 Endocrinology111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified3. Good health110904 Neurology and Neuromuscular DiseasesNeuroscience
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

2019

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved resid…

MaleHeterozygoteAdolescentVesicle-Associated Membrane Protein 2neuronal exocytosisynaptopathyautismsynaptobrevinMembrane FusionExocytosisR-SNARE ProteinsProtein DomainsReportIntellectual DisabilityGeneticsHumansAutistic DisorderChildGenetics (clinical)NeuronsNeurotransmitter Agentsneurodevelopmental disordersvesicle fusionBrainautism; epilepsy; movement disorders; neurodevelopmental disorders; neuronal exocytosis; SNARE; synaptobrevin; synaptopathy; VAMP2; vesicle fusionneuronal exocytosisLipidsMagnetic Resonance Imagingneurodevelopmental disorderautism epilepsy movement disorders neurodevelopmental disorders neuronal exocytosis SNARE synaptobrevin synaptopathy VAMP2 vesicle fusion Genetics Genetics (clinical)Phenotypeautism; epilepsy; movement disorders; neurodevelopmental disorders; neuronal exocytosis; SNARE; synaptobrevin; synaptopathy; VAMP2; vesicle fusion; Genetics; Genetics (clinical)VAMP2SNAREChild PreschoolMutationSynapsesMuscle Hypotoniaepilepsymovement disordersFemalesense organsmovement disorder
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Supplemental material for Non-invasive vagus nerve stimulation (nVNS) for the preventive treatment of episodic migraine: The multicentre, double-blin…

2019

Supplemental Material for Non-invasive vagus nerve stimulation (nVNS) for the preventive treatment of episodic migraine: The multicentre, double-blind, randomised, sham-controlled PREMIUM trial by Hans-Christoph Diener, Peter J Goadsby, Messoud Ashina, Mohammad Al-Mahdi Al-Karagholi, Alexandra Sinclair, Dimos Mitsikostas, Delphine Magis, Patricia Pozo-Rosich, Pablo Irimia Sieira, Miguel JA Làinez, Charly Gaul, Nicholas Silver, Jan Hoffmann, Juana Marin, Eric Liebler, Michel D Ferrari and on behalf of the PREMIUM Study Group in Cephalalgia

FOS: PsychologyFOS: Clinical medicine170199 Psychology not elsewhere classified110319 Psychiatry (incl. Psychotherapy)110306 Endocrinology111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified3. Good health110904 Neurology and Neuromuscular DiseasesNeuroscience
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