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Antonio Falace

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Human Molecular Genetics|October 13, 2025
Mosaic expression of SLC35A2 pathogenetic variants impairs neuronal migration and dendritogenesis in the developing cortexAntonio Falace, Léa Corbières, Lucas Silvagnoli, et al.
Epilepsia Open|October 24, 2025
Adjunctive acetazolamide for drug-resistant seizures in SLC6A1-related neurodevelopmental disorder: An exploratory case seriesGia Melikishvili, Olivier Dulac, Otar Koniashvili, et al.
European Journal of Human Genetics : EJHG|January 4, 2024
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemiaMonica Traverso, Serena Baratto, Michele Iacomino, et al.
Journal of Visualized Experiments : Jove|December 30, 2017
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain MalformationsValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, 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.
Archives of Neurology|November 16, 2011
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridizationPasquale Striano, Antonietta Coppola, Roberta Paravidino, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disabilityAnne-Laure Mosca-Boidron, Lucie Gueneau, Guillaume Huguet, et al.
Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
Pageof 3

Showing results (21-30 of 28) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
Human Molecular Genetics|October 13, 2025
Mosaic expression of SLC35A2 pathogenetic variants impairs neuronal migration and dendritogenesis in the developing cortexAntonio Falace, Léa Corbières, Lucas Silvagnoli, et al.
Epilepsia Open|October 24, 2025
Adjunctive acetazolamide for drug-resistant seizures in SLC6A1-related neurodevelopmental disorder: An exploratory case seriesGia Melikishvili, Olivier Dulac, Otar Koniashvili, et al.
European Journal of Human Genetics : EJHG|January 4, 2024
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemiaMonica Traverso, Serena Baratto, Michele Iacomino, et al.
Journal of Visualized Experiments : Jove|December 30, 2017
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain MalformationsValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, 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.
Archives of Neurology|November 16, 2011
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridizationPasquale Striano, Antonietta Coppola, Roberta Paravidino, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disabilityAnne-Laure Mosca-Boidron, Lucie Gueneau, Guillaume Huguet, et al.
Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
Pageof 3