| TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy A Falace, F Filipello, V La Padula, N Vanni, F Madia, DDP Tonelli, ... The American Journal of Human Genetics 87 (3), 365-370, 2010 | 171 | 2010 |
| Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy M Milh, A Falace, N Villeneuve, N Vanni, P Cacciagli, S Assereto, ... Human Mutation, 2013 | 125 | 2013 |
| TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli, P Verstreken, ... Neurology 87 (1), 77-85, 2016 | 120 | 2016 |
| POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes R Biancheri, A Falace, A Tessa, M Pedemonte, S Scapolan, ... Biochemical and biophysical research communications 363 (4), 1033-1037, 2007 | 114 | 2007 |
| TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway A Falace, E Buhler, M Fadda, F Watrin, P Lippiello, E Pallesi-Pocachard, ... Proceedings of the National Academy of Sciences 111 (6), 2337-2342, 2014 | 104 | 2014 |
| Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy N Vanni, F Fruscione, E Ferlazzo, P Striano, A Robbiano, M Traverso, ... Annals of neurology 76 (2), 206-212, 2014 | 88 | 2014 |
| Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization P Striano, A Coppola, R Paravidino, M Malacarne, S Gimelli, A Robbiano, ... Archives of neurology 69 (3), 322-330, 2012 | 84 | 2012 |
| Expanding the clinical spectrum of POMT1 phenotype A D'Amico, A Tessa, C Bruno, S Petrini, R Biancheri, M Pane, ... Neurology 66 (10), 1564-1567, 2006 | 68 | 2006 |
| Disorders of neurogenesis and cortical development FC Guarnieri, A de Chevigny, A Falace, C Cardoso Dialogues in clinical neuroscience 20 (4), 255-266, 2018 | 54 | 2018 |
| Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse E Tagliatti, M Fadda, A Falace, F Benfenati, A Fassio Elife 5, e10116, 2016 | 54 | 2016 |
| A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability AL Mosca-Boidron, L Gueneau, G Huguet, A Goldenberg, C Henry, ... European Journal of Human Genetics 24 (6), 838-843, 2016 | 47 | 2016 |
| POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum R Biancheri, E Bertini, A Falace, M Pedemonte, A Rossi, A D’Amico, ... Archives of neurology 63 (10), 1491-1495, 2006 | 41 | 2006 |
| TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons D Aprile, F Fruscione, S Baldassari, M Fadda, D Ferrante, A Falace, ... Cell Death & Differentiation 26 (11), 2464-2478, 2019 | 35 | 2019 |
| Inherited neuromyotonia: a clinical and genetic study of a family A Falace, P Striano, F Manganelli, A Coppola, S Striano, C Minetti, F Zara Neuromuscular Disorders 17 (1), 23-27, 2007 | 35 | 2007 |
| Emerging role of the autophagy/lysosomal degradative pathway in neurodevelopmental disorders with epilepsy A Fassio, A Falace, A Esposito, D Aprile, R Guerrini, F Benfenati Frontiers in Cellular Neuroscience 14, 39, 2020 | 32 | 2020 |
| Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course A Esposito, A Falace, M Wagner, M Gal, D Mei, V Conti, T Pisano, D Aprile, ... Brain 142 (12), 3876-3891, 2019 | 29 | 2019 |
| Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing C Michetti, A Falace, F Benfenati, A Fassio Neurobiology of Disease 173, 105856, 2022 | 19 | 2022 |
| Do regulatory regions matter in FOXG1 duplications? A Falace, N Vanni, A Mallamaci, P Striano, F Zara European Journal of Human Genetics 21 (4), 365-366, 2013 | 8 | 2013 |
| DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia M Traverso, S Baratto, M Iacomino, M Di Duca, C Panicucci, S Casalini, ... European Journal of Human Genetics 32 (3), 342-349, 2024 | 1 | 2024 |
| Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia F Romano, E Amadori, F Madia, M Severino, V Capra, R Rizzo, R Barone, ... Frontiers in Pediatrics 11, 1326552, 2023 | 1 | 2023 |
Zara FedericoInstitute G. Gaslini, University of Genoa在 gaslini.org 的电子邮件经过验证
