Sfoglia per Autore
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes
2019 Castellotti, B; Ragona, F; Freri, E; Solazzi, R; Ciardullo, S; Tricomi, G; Venerando, A; Salis, B; Canafoglia, L; Villani, F; Franceschetti, S; Nardocci, N; Gellera, C; Difrancesco, J; Granata, T
Progressive epileptic encephalopathy associated with a novel HCN2 mutation
2019 Binda, A; Murano, C; DI FRANCESCO, J; Castellotti, B; Milanesi, R; Ragona, F; Freri, E; Canafoglia, L; Franceschetti, S; Solazzi, R; Granata, T; Gellera, C; Rivolta, I
Generation and validation of algorithms to identify subjects with dementia using administrative data
2019 Difrancesco, J; Pina, A; Giussani, G; Cortesi, L; Bianchi, E; Cavalieri d'Oro, L; Amodio, E; Nobili, A; Tremolizzo, L; Isella, V; Appollonio, I; Ferrarese, C; Beghi, E
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature
2019 Difrancesco, J; Castellotti, B; Milanesi, R; Ragona, F; Freri, E; Canafoglia, L; Franceschetti, S; Ferrarese, C; Magri, S; Taroni, F; Costa, C; Labate, A; Gambardella, A; Solazzi, R; Binda, A; Rivolta, I; Di Gennaro, G; Casciato, S; D'Incerti, L; Barbuti, A; Difrancesco, D; Granata, T; Gellera, C
HCN1 novel mutations in familiar generalized epilepsy
2018 Binda, A; Murano, C; Granata, T; Ragona, F; Freri, E; Franceschetti, S; Canafoglia, L; Castellotti, B; Gellere, C; Milanesi, R; Difrancesco, J; Rivolta, I
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability
2018 Bonzanni, M; Difrancesco, J; Milanesi, R; Campostrini, G; Castellotti, B; Bucchi, A; Baruscotti, M; Ferrarese, C; Franceschetti, S; Canafoglia, L; Ragona, F; Freri, E; Labate, A; Gambardella, A; Costa, C; Rivolta, I; Gellera, C; Granata, T; Barbuti, A; Difrancesco, D
HCN1 mutation spectrum: From neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
2018 Marini, C; Porro, A; Rastetter, A; Dalle, C; Rivolta, I; Bauer, D; Oegema, R; Nava, C; Parrini, E; Mei, D; Mercer, C; Dhamija, R; Chambers, C; Coubes, C; Thévenon, J; Kuentz, P; Julia, S; Pasquier, L; Dubourg, C; Carré, W; Rosati, A; Melani, F; Pisano, T; Giardino, M; Innes, A; Alembik, Y; Scheidecker, S; Santos, M; Figueiroa, S; Garrido, C; Fusco, C; Frattini, D; Spagnoli, C; Binda, A; Granata, T; Ragona, F; Freri, E; Franceschetti, S; Canafoglia, L; Castellotti, B; Gellera, C; Milanesi, R; Mancardi, M; Clark, D; Kok, F; Helbig, K; Ichikawa, S; Sadler, L; Neupauerová, J; Laššuthova, P; Šterbová, K; Laridon, A; Brilstra, E; Koeleman, B; Lemke, J; Zara, F; Striano, P; Soblet, J; Smits, G; Deconinck, N; Barbuti, A; Difrancesco, D; Leguern, E; Guerrini, R; Santoro, B; Hamacher, K; Thiel, G; Moroni, A; Di Francesco, J; Depienne, C
A loss-of-function HCN4 mutation associated with familial benign myoclonic epilepsy in infancy causes increased neuronal excitability
2018 Campostrini, G; Difrancesco, J; Castellotti, B; Milanesi, R; Gnecchi-Ruscone, T; Bonzanni, M; Bucchi, A; Baruscotti, M; Ferrarese, C; Franceschetti, S; Canafoglia, L; Ragona, F; Freri, E; Labate, A; Gambardella, A; Costa, C; Gellera, C; Granata, T; Barbuti, A; Difrancesco, D
Long-term applicability of the new ILAE definition of epilepsy. Results from the PRO-LONG study
2017 Beretta, S; Carone, D; Zanchi, C; Bianchi, E; Pirovano, M; Trentini, C; Padovano, G; Colombo, M; Cereda, D; Scanziani, S; Giussani, G; Gasparini, S; Bogliun, G; Ferrarese, C; Beghi, E; Romeo, A; Viri, M; Lodi, M; Specchio, L; Trivisano, M; Mecarelli, O; Zarabla, A; Capovilla, G; Beccaria, F; Sasanelli, F; Andrea Galimberti, C; Tartara, E; Zamponi, N; Cappanera, S; Aguglia, U; Pustorino, G; Ferlazzo, E; La Neve, A; Luisi, C; Pontrelli, G; Basso, P; Pozzi, A; Cantisani, A; Papetti, R; De Maria, G; Difrancesco, J; Albanese, Y
Adult-Onset Epilepsy in Presymptomatic Alzheimer's Disease: A Retrospective Study
2017 Difrancesco, J; Tremolizzo, L; Polonia, V; Giussani, G; Bianchi, E; Franchi, C; Nobili, A; Appollonio, I; Beghi, E; Ferrarese, C
Clinical, biological and neuroradiological evolution of Cerebral Amyloid Angiopathy-related inflammation: the iCAβ International Network longitudinal study.
2016 Longoni, M; Totino, L; DI FRANCESCO, J; Andreoni, S; Piazza, F
Cerebral Amyloid Angiopathy-Related Inflammation: Report of a Case with Very Difficult Therapeutic Management
2015 Crosta, F; Orlandi, B; De Santis, F; Passalacqua, G; Difrancesco, J; Piazza, F; Catalucci, A; Desideri, G; Marini, C
Anti-Aβ autoantibodies in amyloid related imaging abnormalities (ARIA): Candidate biomarker for immunotherapy in Alzheimer's disease and cerebral amyloid angiopathy
2015 Difrancesco, J; Longoni, M; Piazza, F
Prodromal Alzheimer's Disease Presenting as Cerebral Amyloid Angiopathy-Related Inflammation with Spontaneous Amyloid-Related Imaging Abnormalities and High Cerebrospinal Fluid Anti-Aβ Autoantibodies
2015 Piazza, F; Boncoraglio, G; Savoiardo, M; Farina, L; DI FRANCESCO, J; Prioni, S; Tagliavini, F; Parati, E; Giaccone, G
Recurrence of Cerebral Amyloid Angiopathy-Related Inflammation: A Report of Two Cases from the iCAβ International Network
2015 Di Francesco, J; Touat, M; Caulo, M; Gallucci, M; Garcin, B; Levy, R; Uncini, A; Piazza, F
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy
2015 Difrancesco, J; Novara, F; Zuffardi, O; Forlino, A; Gioia, R; Cossu, F; Bolognesi, M; Andreoni, S; Saracchi, E; Frigeni, B; Stellato, T; Tolnay, M; Winkler, D; Remida, P; Isimbaldi, G; Ferrarese, C
Validation of Clinical-Radiological Criteria for the Diagnosis of Cerebral Amyloid Angiopathy-related Inflammation
2014 Auriel, E; Gurol, M; Ni, J; Van Etten, E; Martinez Remirez, S; Piazza, F; DI FRANCESCO, J; Frosch, M; Pontes Neto, O; Vashkevich, A; Ayers, A; Shoamanesh, A; Schwab, K; Viswanathan, A; Greenberg, S
Novel neurofibromatosis type 2 mutation presenting with status epilepticus
2014 DI FRANCESCO, J; Sestini, R; Cossu, F; Bolognesi, M; Sala, E; Mariani, S; Saracchi, E; Papi, L; Ferrarese, C
Brain targets: can you believe your own eyes?
2014 Stefanoni, G; Tironi, M; Tremolizzo, L; Fusco, M; Di Francesco, J; Patassini, M; Ferrarese, C; Appollonio, I
Anti-Aβ autoantibodies in cerebral amyloid angiopathy-related inflammation: Implications for amyloid-modifying therapies
2013 Piazza, F; Greenberg, S; Savoiardo, M; Gardinetti, M; Chiapparini, L; Raicher, I; Nitrini, R; Sakaguchi, H; Brioschi, M; Billo, G; Colombo, A; Lanzani, F; Piscosquito, G; Carriero, M; Giaccone, G; Tagliavini, F; Ferrarese, C; DI FRANCESCO, J
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