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Anna Fassio

Showing results (41-50 of 49) with videos related to

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Brain : a Journal of Neurology|March 20, 2018
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activityFloriana Fruscione, Pierluigi Valente, Bruno Sterlini, et al.
Human Molecular Genetics|October 19, 2018
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neuronsMattéa J Finelli, Davide Aprile, Enrico Castroflorio, et al.
Cell Reports|December 21, 2017
APache Is an AP2-Interacting Protein Involved in Synaptic Vesicle Trafficking and Neuronal DevelopmentAlessandra Piccini, Enrico Castroflorio, Pierluigi Valente, et al.
Cell Reports|April 8, 2016
PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release MachineryPierluigi Valente, Enrico Castroflorio, Pia Rossi, et al.
Human Molecular Genetics|March 29, 2011
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic functionAnna Fassio, Lysanne Patry, Sonia Congia, et al.
Brain : a Journal of Neurology|April 19, 2018
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsyAnna Fassio, Alessandro Esposito, Mitsuhiro Kato, et al.
Brain : a Journal of Neurology|November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive courseAlessandro Esposito, Antonio Falace, Matias Wagner, et al.
Brain : a Journal of Neurology|June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasisRenzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.
Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
Pageof 5

Showing results (41-50 of 49) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
Brain : a Journal of Neurology|March 20, 2018
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activityFloriana Fruscione, Pierluigi Valente, Bruno Sterlini, et al.
Human Molecular Genetics|October 19, 2018
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neuronsMattéa J Finelli, Davide Aprile, Enrico Castroflorio, et al.
Cell Reports|December 21, 2017
APache Is an AP2-Interacting Protein Involved in Synaptic Vesicle Trafficking and Neuronal DevelopmentAlessandra Piccini, Enrico Castroflorio, Pierluigi Valente, et al.
Cell Reports|April 8, 2016
PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release MachineryPierluigi Valente, Enrico Castroflorio, Pia Rossi, et al.
Human Molecular Genetics|March 29, 2011
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic functionAnna Fassio, Lysanne Patry, Sonia Congia, et al.
Brain : a Journal of Neurology|April 19, 2018
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsyAnna Fassio, Alessandro Esposito, Mitsuhiro Kato, et al.
Brain : a Journal of Neurology|November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive courseAlessandro Esposito, Antonio Falace, Matias Wagner, et al.
Brain : a Journal of Neurology|June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasisRenzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.
Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
Pageof 5