Works by Falace, Antonio

Results: 9

V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities.

Published in:

Cells (2073-4409), 2024, v. 13, n. 17, p. 1441, doi. 10.3390/cells13171441

By:

Falace, Antonio;
Volpedo, Greta;
Scala, Marcello;
Zara, Federico;
Striano, Pasquale;
Fassio, Anna

Publication type:

Article

Do regulatory regions matter in FOXG1 duplications?

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 365, doi. 10.1038/ejhg.2012.142

By:

Falace, Antonio;
Vanni, Nicola;
Mallamaci, Antonello;
Striano, Pasquale;
Zara, Federico

Publication type:

Article

ATP6V1A is required for synaptic rearrangements and plasticity in murine hippocampal neurons.

Published in:

Acta Physiologica, 2024, v. 240, n. 8, p. 1, doi. 10.1111/apha.14186

By:

Esposito, Alessandro;
Pepe, Sara;
Cerullo, Maria Sabina;
Cortese, Katia;
Semini, Hanako Tsushima;
Giovedì, Silvia;
Guerrini, Renzo;
Benfenati, Fabio;
Falace, Antonio;
Fassio, Anna

Publication type:

Article

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

Published in:

2019

By:

Esposito, Alessandro;
Falace, Antonio;
Wagner, Matias;
Gal, Moran;
Mei, Davide;
Conti, Valerio;
Pisano, Tiziana;
Aprile, Davide;
Cerullo, Maria Sabina;
Fusco, Antonio De;
Giovedì, Silvia;
Seibt, Annette;
Magen, Daniella;
Polster, Tilman;
Eran, Ayelet;
Stenton, Sarah L;
Fiorillo, Chiara;
Ravid, Sarit;
Mayatepek, Ertan;
Hafner, Hava

Publication type:

journal article

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.

Published in:

Annals of Neurology, 2014, v. 76, n. 2, p. 206, doi. 10.1002/ana.24170

By:

Vanni, Nicola;
Fruscione, Floriana;
Ferlazzo, Edoardo;
Striano, Pasquale;
Robbiano, Angela;
Traverso, Monica;
Sander, Thomas;
Falace, Antonio;
Gazzerro, Elisabetta;
Bramanti, Placido;
Bielawski, Jacek;
Fassio, Anna;
Minetti, Carlo;
Genton, Pierre;
Zara, Federico

Publication type:

Article

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

Published in:

Frontiers in Cellular Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fncel.2020.00039

By:

Fassio, Anna;
Falace, Antonio;
Esposito, Alessandro;
Aprile, Davide;
Guerrini, Renzo;
Benfenati, Fabio

Publication type:

Article

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

Published in:

eLife, 2016, p. 1, doi. 10.7554/eLife.10116

By:

Tagliatti, Erica;
Fadda, Manuela;
Falace, Antonio;
Benfenati, Fabio;
Fassio, Anna

Publication type:

Article

Novel Compound Heterozygous Mutations in TBC 1 D 24 Cause Familial Malignant Migrating Partial Seizures of Infancy.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 869, doi. 10.1002/humu.22318

By:

Milh, Mathieu;
Falace, Antonio;
Villeneuve, Nathalie;
Vanni, Nicola;
Cacciagli, Pierre;
Assereto, Stefania;
Nabbout, Rima;
Benfenati, Fabio;
Zara, Federico;
Chabrol, Brigitte;
Villard, Laurent;
Fassio, Anna

Publication type:

Article

Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.

Published in:

Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2023.1326552

By:

Romano, Ferruccio;
Amadori, Elisabetta;
Madia, Francesca;
Severino, Mariasavina;
Capra, Valeria;
Rizzo, Renata;
Barone, Rita;
Corradi, Beatrice;
Maragliano, Luca;
Shams Nosrati, Mohammad Sadegh;
Falace, Antonio;
Striano, Pasquale;
Zara, Federico;
Scala, Marcello

Publication type:

Article