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D. Aprile

Human Molecular Genetics, Brain : a journal of neurology, Cell Death and Differentiation, Frontiers in Cellular Neuroscience, American Journal of Medical Genetics. Part A, Cell Reports, Cell Death and Disease Show more
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Role
Title
Level Year L/R
🐜 The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons
16 auth. M. Finelli, D. Aprile, E. Castroflorio, A. Jeans, Matteo Moschetta, Lauren Chessum, M. Degiacomi, Julia Grasegger, Alexis Lupien-Meilleur, Andrew R. Bassett, ... E. Rossignol, Philippe M. Campeau, M. Bowl, F. Benfenati, A. Fassio, P. Oliver 		5 2018
5
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🐜 Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
28 auth. Alessandro Esposito, A. Falace, M. Wagner, M. Gal, D. Mei, V. Conti, T. Pisano, D. Aprile, Maria Sabina Cerullo, A. De Fusco, S. Giovedì, A. Seibt, D. Magen, T. Polster, A. Eran, ... S. L. Stenton, C. Fiorillo, S. Ravid, E. Mayatepek, H. Hafner, S. Wortmann, E. Levanon, C. Marini, H. Mandel, F. Benfenati, F. Distelmaier, A. Fassio, R. Guerrini 		5 2019
5
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🦁 TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons
13 auth. D. Aprile, Floriana Fruscione, Simona Baldassari, Manuela Fadda, Daniele Ferrante, A. Falace, E. Buhler, Jacopo Sartorelli, A. Represa, P. Baldelli, ... F. Benfenati, F. Zara, A. Fassio 		4 2019
4
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🐬 Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy
A. Fassio, A. Falace, Alessandro Esposito, D. Aprile, R. Guerrini, F. Benfenati 		4 2020
4
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🐜 Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations
9 auth. R. Lozano, K. Herman, M. Rothfuss, H. Rieger, P. Bayrak-Toydemir, D. Aprile, ... Floriana Fruscione, F. Zara, A. Fassio 		4 2016
4
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🐜 APache Is an AP2-Interacting Protein Involved in Synaptic Vesicle Trafficking and Neuronal Development.
18 auth. A. Piccini, E. Castroflorio, P. Valente, F. C. Guarnieri, D. Aprile, C. Michetti, M. Bramini, Giorgia Giansante, Bruno Pinto, Annalisa Savardi, ... F. Cesca, A. Bachi, A. Cattaneo, J. Wren, A. Fassio, F. Valtorta, F. Benfenati, S. Giovedì 		3 2017
3
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🐜 An interaction between PRRT2 and Na+/K+ ATPase contributes to the control of neuronal excitability
12 auth. Bruno Sterlini, Alessandra Romei, Chiara Parodi, D. Aprile, M. Oneto, A. Aperia, ... P. Valente, F. Valtorta, A. Fassio, P. Baldelli, F. Benfenati, A. Corradi 		3 2021
3
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