TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

Antonio Falace, Fabia Filipello, Veronica La Padula, +10

The American Journal of Human Genetics

Is MutatedArf6-interacting ProteinGenetic DisorderGeneticsDisease Gene Identification +4

<i>TBC1D24</i> genotype–phenotype correlation

Simona Balestrini, Mathieu Milh, Claudia Castiglioni, +56

Neurology

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

Nicola Vanni, Floriana Fruscione, Edoardo Ferlazzo, +12

Annals of Neurology

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes

Roberta Biancheri, Antonio Falace, Alessandra Tessa, +10

Biochemical and Biophysical Research Communications

Rare DiseasesMendelian DisorderGenetic DisorderGeneticsDegenerative Disease +7

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway

Antonio Falace, Emmanuelle Buhler, Manuela Fadda, +9

Proceedings of the National Academy of Sciences

Disorders of neurogenesis and cortical development

Fabrizia Claudia Guarnieri, Antoine de Chevigny, Antonio Falace, +1

Dialogues in Clinical Neuroscience

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

Anne‐Laure Mosca‐Boidron, Lucie Gueneau, Guillaume Huguet, +31

European Journal of Human Genetics

Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse

Erica Tagliatti, Manuela Fadda, Antonio Falace, +2

eLife

Synaptic TransmissionMolecular BiologyCytoskeletonNeurotransmissionHippocampal Synapse +18

Expanding the clinical spectrum of <i>POMT1</i> phenotype

Adele D’Amico, Alessandra Tessa, Claudio Bruno, +10

Neurology

Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy

Anna Fassio, Antonio Falace, Alessandro Esposito, +3

Frontiers in Cellular Neuroscience

MitophagyDysfunctional AutophagyEfficient Autophagy EssentialSocial SciencesAutophagy/lysosomal Degradative Pathway +17