SALPIETRO DAMIANO, VINCENZO

SALPIETRO DAMIANO, VINCENZO  

100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftamologia, Genetica e Scienze Materno-Infantili  

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3T Double Inversion Recovery Magnetic Resonance Imaging: Diagnostic advantages in the evaluation of cortical development anomalies 1-gen-2016 Granata, F.; Morabito, R.; Mormina, E.; Alafaci, C.; Marino, S.; Lagana, A.; Vinci, S. L.; Briguglio, M.; Calamuneri, A.; Gaeta, M.; Salpietro, V.; Longo, M.
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 1-gen-2022 Naim, Alessandro; Accogli, Andrea; Amadori, Elisabetta; D'Onofrio, Gianluca; Madia, Francesca; Tortora, Domenico; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo; Severino, Mariasavina
Accessory oral cavity associated with duplication of the tongue and the mandible in a newborn: A rare case of Diprosopus. Multi-row detector computed tomography diagnostic role 1-gen-2014 Morabito, R.; Colonna, M. R.; Mormina, E.; Stagno D'Alcontres, F.; Salpietro, V.; Blandino, A.; Longo, M.; Granata, F.
aCGH nella diagnostica delle sindromi dismorfiche: nostra casistica 1-gen-2009 Cutrupi, M. C.; Burgo, A.; Cutrì, M. R.; Caruso, R.; Russo, B.; Melcarne, L.; Loddo, I.; SALPIETRO DAMIANO, Vincenzo; Briuglia, S.; Salpietro, C. D.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model 1-gen-2022 Vitobello, Antonio; Mazel, Benoit; Lelianova, Vera G; Zangrandi, Alice; Petitto, Evelina; Suckling, Jason; Salpietro, Vincenzo; Meyer, Robert; Elbracht, Miriam; Kurth, Ingo; Eggermann, Thomas; Benlaouer, Ouafa; Lall, Gurprit; Tonevitsky, Alexander G; Scott, Daryl A; Chan, Katie M; Rosenfeld, Jill A; Nambot, Sophie; Safraou, Hana; Bruel, Ange-Line; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frédéric; Philippe, Christophe; Duffourd, Yannis; Guo, Hui; Petersen, Andrea K; Granger, Leslie; Crunk, Amy; Bayat, Allan; Striano, Pasquale; Zara, Federico; Scala, Marcello; Thomas, Quentin; Delahaye, Andrée; de Sainte Agathe, Jean-Madeleine; Buratti, Julien; Kozlov, Serguei V; Faivre, Laurence; Thauvin-Robinet, Christel; Ushkaryov, Yuri
Adrenal disorders and the paediatric brain: Pathophysiological considerations and clinical implications 1-gen-2014 Salpietro, V.; Polizzi, A.; Di Rosa, G.; Romeo, A. C.; Dipasquale, V.; Morabito, P.; Chirico, V.; Arrigo, T.; Ruggieri, M.
Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants 1-gen-2020 Nardello, R.; Fontana, A.; Donato Mangano, G.; Efthymiou, S.; SALPIETRO DAMIANO, Vincenzo; Houlden, H.; Mangano, S.
Airways allergic inflammation and L. reuterii treatment in asthmatic children 1-gen-2012 Miraglia Del Giudice, M; Maiello, N; Decimo, F; Fusco, N; D' Agostino, B; Sullo, N; Capasso, M; Salpietro, V; Gitto, E; Ciprandi, G; Marseglia, G L; Perrone, L
Association between maternal serum high mobility group box 1 levels and pregnancy complicated by gestational diabetes mellitus 1-gen-2016 Giacobbe, A.; Granese, R.; Grasso, R.; SALPIETRO DAMIANO, Vincenzo; Corrado, F.; Giorgianni, G.; Foti, G.; Amadore, D.; Triolo, O.; Giunta, L.; Di Benedetto, A.
Atopy as a risk factor for thyroid autoimmunity in children 1-gen-2012 Pedullà, M; Miraglia Del Giudice, M; Fierro, V; Arrigo, T; Gitto, E; Salpietro, A; Lionetti, E; Salpietro, V; Leonardi, S; Santaniello, F; Perrone, L
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (Nature Genetics, (2019), 51, 4, (649-658), 10.1038/s41588-019-0372-4) 1-gen-2019 Cortese, Alessandro; Simone, R.; Sullivan, R.; Vandrovcova, J.; Tariq, H.; Yau, W. Y.; Humphrey, J.; Jaunmuktane, Z.; Sivakumar, P.; Polke, J.; Ilyas, M.; Tribollet, E.; Tomaselli, P. J.; Devigili, G.; Callegari, I.; Versino, M.; Salpietro, V.; Efthymiou, S.; Kaski, D.; Wood, N. W.; Andrade, N. S.; Buglo, E.; Rebelo, A.; Rossor, A. M.; Bronstein, A.; Fratta, P.; Marques, W. J.; Zuchner, S.; Reilly, M. M.; Houlden, H.
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia 1-gen-2019 Cortese, A.; Simone, R.; Sullivan, R.; Vandrovcova, J.; Tariq, H.; Yan, Y. W.; Humphrey, J.; Jaunmuktane, Z.; Sivakumar, P.; Polke, J.; Ilyas, M.; Tribollet, E.; Tomaselli, P. J.; Devigili, G.; Callegari, I.; Versino, M.; Salpietro, V.; Efthymiou, S.; Kaski, D.; Wood, N. W.; Andrade, N. S.; Buglo, E.; Rebelo, A.; Rossor, A. M.; Bronstein, A.; Fratta, P.; Marques, W. J.; Zuchner, S.; Reilly, M. M.; Houlden, H.
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 1-gen-2020 Scala, Marcello; Chua, Geok Lin; Chin, Cheen Fei; Alsaif, Hessa S; Borovikov, Artem; Riazuddin, Saima; Riazuddin, Sheikh; Chiara Manzini, M; Severino, Mariasavina; Kuk, Alvin; Fan, Hao; Jamshidi, Yalda; Toosi, Mehran Beiraghi; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Dadali, Elena; Baydakova, Galina; Konovalov, Fedor; Lozier, Ekaterina; O'Connor, Emer; Sabr, Yasser; Alfaifi, Abdullah; Ashrafzadeh, Farah; Striano, Pasquale; Zara, Federico; Alkuraya, Fowzan S; Houlden, Henry; Maroofian, Reza; Silver, David L
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 1-gen-2018 Ghosh, S. G.; Becker, K.; Huang, H.; Dixon-Salazar, T.; Chai, G.; Salpietro, V.; Al-Gazali, L.; Waisfisz, Q.; Wang, H.; Vaux, K. K.; Stanley, V.; Manole, A.; Akpulat, U.; Weiss, M. M.; Efthymiou, S.; Hanna, M. G.; Minetti, C.; Striano, P.; Pisciotta, L.; De Grandis, E.; Altmuller, J.; Nurnberg, P.; Thiele, H.; Yis, U.; Okur, T. D.; Polat, A. I.; Amiri, N.; Doosti, M.; Karimani, E. G.; Toosi, M. B.; Haddad, G.; Karakaya, M.; Wirth, B.; van Hagen, J. M.; Wolf, N. I.; Maroofian, R.; Houlden, H.; Cirak, S.; Gleeson, J. G.
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination 1-gen-2019 Efthymiou, Stephanie; Salpietro, Vincenzo; Malintan, Nancy; Poncelet, Mallory; Kriouile, Yamna; Fortuna, Sara; De Zorzi, Rita; Payne, Katelyn; Henderson, Lindsay B; Cortese, Andrea; Maddirevula, Sateesh; Alhashmi, Nadia; Wiethoff, Sarah; Ryten, Mina; Botia, Juan A; Provitera, Vincenzo; Schuelke, Markus; Vandrovcova, Jana; Walsh, Laurence; Torti, Erin; Iodice, Valeria; Najafi, Maryam; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Siquier-Pernet, Karine; Boddaert, Nathalie; De Lonlay, Pascale; Cantagrel, Vincent; Aguennouz, Mhammed; El Khorassani, Mohamed; Schmidts, Miriam; Alkuraya, Fowzan S; Edvardson, Simon; Nolano, Maria; Devaux, Jérôme; Houlden, Henry
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 1-gen-2019 Savasta, Salvatore; Bassanese, Francesco; Buschini, Chiara; Foiadelli, Thomas; Trabatti, Chiara; Efthymiou, Stephanie; Salpietro, Vincenzo; Houlden, Henry; Simoncelli, Annamaria; Marseglia, Gian Luigi
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders 1-gen-2020 Baldassari, S.; Musante, I.; Iacomino, M.; Zara, F.; SALPIETRO DAMIANO, Vincenzo; Scudieri, P.
Central precocious puberty: from physiopathological mechanisms to treatment 1-gen-2014 Chirico, V; Lacquaniti, A; Salpietro, V; Buemi, M; Salpietro, C; Arrigo, T
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 1-gen-2021 Accogli, Andrea; Wiegand, Gert; Scala, Marcello; Cerminara, Caterina; Iacomino, Michele; Riva, Antonella; Carlini, Barbara; Camerota, Letizia; Belcastro, Vincenzo; Prontera, Paolo; Fernández-Jaén, Alberto; Bebek, Nerses; Scudieri, Paolo; Baldassari, Simona; Salpietro, Vincenzo Damiano; Novelli, Giuseppe; De Luca, Chiara; von Stülpnagel, Celina; Kluger, Felicitas; Kluger, Gerhard Josef; Wohlrab, Gabriele Christine; Ramantani, Georgia; Lewis-Smith, David; Thomas, Rhys H; Lai, Ming; Verrotti, Alberto; Striano, Salvatore; Depienne, Christel; Minetti, Carlo; Benfenati, Fabio; Brancati, Francesco; Zara, Federico; Striano, Pasquale
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 1-gen-2020 Balagura, G.; Riva, A.; Marchese, F.; Iacomino, M.; Madia, F.; Giacomini, T.; Mancardi, M. M.; Amadori, E.; Vari, M. S.; Salpietro Damiano, V.; Russo, A.; Messana, T.; Vignoli, A.; Chiesa, V.; Giordano, L.; Accorsi, P.; Caffi, L.; Orsini, A.; Bonuccelli, A.; Santucci, M.; Vecchi, M.; Vanadia, F.; Milito, G.; Fusco, C.; Cricchiutti, G.; Carpentieri, M.; Margari, L.; Spalice, A.; Beccaria, F.; Benfenati, F.; Zara, F.; Striano, P.