Takip et
Antonio Falace
Antonio Falace
Laboratory of Neurobiology, Child Neurology Unit, Children’s Hospital A. Meyer
meyer.it üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
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
1672010
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
1242013
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
1172016
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
1112007
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
1022014
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
872014
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
822012
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
672006
Disorders of neurogenesis and cortical development
FC Guarnieri, A de Chevigny, A Falace, C Cardoso
Dialogues in clinical neuroscience 20 (4), 255-266, 2018
512018
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
502016
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
422016
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
412006
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
352007
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
322019
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
302020
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
252019
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
132022
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
72013
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, 1-8, 2024
12024
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, 2023
2023
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