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USD 80 /hr
Hire Dr. Antonio F.
Italy
USD 80 /hr
Researcher in neuroscience and human genetics, expert in cellular mechanisms and disease modeling.
Profile Summary
Subject Matter Expertise
Services
Writing
Non-Medical Regulatory Writing,
Newswriting,
General Proofreading & Editing,
Translation
Research
User Research,
Feasibility Study,
Fact Checking,
Gap Analysis,
Gray Literature Search,
Scientific and Technical Research,
Systematic Literature Review
Consulting
Scientific and Technical Consulting,
Manufacturing Consulting
Product Development
Product Evaluation,
Product Validation,
Concept Development
Work Experience
Istituto Giannina Gaslini
- Present ![]()
PostdoctoralResearcher
IRCCS Meyer Children Hospital
May 2017 - May 2023
Post Doctrol Fellow
INSERM
June 2013 - April 2017
Postdoc position
Research Fellow and Project Collaborator at the Laboratory of Experimental Medicine
January 2010 - April 2013
Education
Ph.D., Pharmacology
Drug Area and Innovative Treatments, University of Florence and Meyer University Hospital
January 2022 - January 2024
PhD Molecular Genetics
Specialization Diploma in Medical Genetics, University of Genoa
February 2006 - December 2009
Masters of Science
Master Degree in Biological Sciences, University of Genoa
January 2000 - February 2005
Certifications
Publications
JOURNAL ARTICLE
Antonio Falace, Léa Corbières, Lucas Silvagnoli, Cristiana Pelorosso, Clara Tuccari di San Carlo, Emmanuelle Buhler, Zeinab Hoteit, Sylvian Bauer, Beatrice Risso, Quenol Cesar, et al. (2025). Mosaic expression of SLC35A2 pathogenetic variants impairs neuronal migration and dendritogenesis in the developing cortex . Human Molecular Genetics.
Antonio Falace, Beatrice Risso, Antonella Riva, Greta Volpedo, Valerio Conti, Clara Tuccari di San Carlo, Federico Zara, Pasquale Striano (2025). SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights . International Journal of Molecular Sciences.
Antonio Falace, Beatrice Risso, Antonella Riva, Greta Volpedo, Valerio Conti, Clara Tuccari di San Carlo, Federico Zara, Pasquale Striano (2025). <i>SLC35A2</i>-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights . International Journal of Molecular Sciences.
Antonio Falace, Greta Volpedo, Marcello Scala, Federico Zara, Pasquale Striano, Anna Fassio (2024). V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities . Cells.
Antonio Falace, Greta Volpedo, Marcello Scala, Federico Zara, Pasquale Striano, Anna Fassio (2024). V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities . Cells.
Antonio Falace, Caterina Michetti, Fabio Benfenati, Anna Fassio(2022). Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing . Neurobiology of Disease. 173. p. 105856. Elsevier {BV}
Antonio Falace, Anna Fassio, Alessandro Esposito, Davide Aprile, Renzo Guerrini, Fabio Benfenati(2020). Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy . Frontiers in Cellular Neuroscience. 14. Frontiers Media {SA}
Antonio Falace, Alessandro Esposito, Matias Wagner, Moran Gal, Davide Mei, Valerio Conti, Tiziana Pisano, Davide Aprile, Maria Sabina Cerullo, Antonio De Fusco, et al.(2019). Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course . Brain. 142. (12). p. 3876--3891. Oxford University Press ({OUP})
Aprile, D., Fruscione, F., Baldassari, S., Fadda, M., Ferrante, D., Falace, A., Buhler, E., Sartorelli, J., Represa, A., Baldelli, P., et al.(2019). TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons . Cell Death and Differentiation.
Guarnieri, F.C., De Chevigny, A., Falace, A., Cardoso, C.(2018). Disorders of neurogenesis and cortical development . Dialogues in Clinical Neuroscience. 20. (4). p. 255-266.
Conti, V., Carabalona, A., Pallesi-Pocachard, E., Leventer, R.J., Schaller, F., Parrini, E., Deparis, A.A., Watrin, F., Buhler, E., Novara, F., et al.(2017). A novel strategy combining array-CGH, whole-exome sequencing and in utero electroporation in rodents to identify causative genes for brain malformations . Journal of Visualized Experiments. 2017. (130).
Mosca-Boidron, A.-L., Gueneau, L., Huguet, G., Goldenberg, A., Henry, C., Gigot, N., Pallesi-Pocachard, E., Falace, A., Duplomb, L., Thevenon, J., et al.(2016). A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability . European Journal of Human Genetics. 24. (6). p. 838-843.
Tagliatti, E., Fadda, M., Falace, A., Benfenati, F., Fassio, A.(2016). Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse . eLife. 5. (JANUARY2016).
Balestrini, S., Milh, M., Castiglioni, C., Lüthy, K., Finelli, M.J., Verstreken, P., Cardon, A., Stražišar, B.G., Holder, J.L., Lesca, G., et al.(2016). TBC1D24 genotype-phenotype correlation . Neurology. 87. (1). p. 77-85.
Vanni, N., Fruscione, F., Ferlazzo, E., Striano, P., Robbiano, A., Traverso, M., Sander, T., Falace, A., Gazzerro, E., Bramanti, P., et al.(2014). Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy . Annals of Neurology. 76. (2). p. 206-212.
Falace, A., Buhler, E., Fadda, M., Watrin, F., Lippiello, P., Pallesi-Pocachard, E., Baldelli, P., Benfenati, F., Zara, F., Represa, A., et al.(2014). TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway . Proceedings of the National Academy of Sciences of the United States of America. 111. (6). p. 2337-2342.
Falace, A., Vanni, N., Mallamaci, A., Striano, P., Zara, F.(2013). Do regulatory regions matter in FOXG1 duplications . European Journal of Human Genetics. 21. (4). p. 365-366.
Milh, M., Falace, A., Villeneuve, N., Vanni, N., Cacciagli, P., Assereto, S., Nabbout, R., Benfenati, F., Zara, F., Chabrol, B., et al.(2013). Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy . Human Mutation. 34. (6). p. 869-872.
Striano, P., Coppola, A., Paravidino, R., Malacarne, M., Gimelli, S., Robbiano, A., Traverso, M., Pezzella, M., Belcastro, V., Bianchi, A., et al.(2012). Clinical significance of rare copy number variations in epilepsy: A case-control survey using microarray-based comparative genomic hybridization . Archives of Neurology. 69. (3). p. 322-330.
Falace, A., Filipello, F., La Padula, V., Vanni, N., Madia, F., De Pietri Tonelli, D., De Falco, F.A., Striano, P., Dagna Bricarelli, F., Minetti, C., et al.(2010). TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy . American Journal of Human Genetics. 87. (3). p. 365-370.
Falace, A., Striano, P., Manganelli, F., Coppola, A., Striano, S., Minetti, C., Zara, F.(2007). Inherited neuromyotonia: A clinical and genetic study of a family . Neuromuscular Disorders. 17. (1). p. 23-27.
Biancheri, R., Falace, A., Tessa, A., Pedemonte, M., Scapolan, S., Cassandrini, D., Aiello, C., Rossi, A., Broda, P., Zara, F., et al.(2007). POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes . Biochemical and Biophysical Research Communications. 363. (4). p. 1033-1037.
D'Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, M., Pedemonte, M., Ricci, E., Falace, A., Rossi, A., et al.(2006). Expanding the clinical spectrum of POMT1 phenotype . Neurology. 66. (10). p. 1564-1567.
Biancheri, R., Bertini, E., Falace, A., Pedemonte, M., Rossi, A., D'Amico, A., Scapolan, S., Bergamino, L., Petrini, S., Cassandrini, D., et al.(2006). POMGnT1 mutations in congenital muscular dystrophy: Genotype-phenotype correlation and expanded clinical spectrum . Archives of Neurology. 63. (10). p. 1491-1495.