TESTI, Silvia

TESTI, Silvia  

DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO  

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A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 1-gen-2014 Testi, Silvia; Peluso, S.; Fabrizi, Gian Maria; Antenora, A.; Russo, C. V.; Pappatà, S.; Padovani, A.; Ferrarini, Moreno; Filla, A.
A pan-european study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability and intermediate repeats. 1-gen-2013 van der Zee, J; Gijselinck, I; Dillen, L; Van Langenhove, T; Theuns, J; Engelborghs, S; Philtjens, S; Vandenbulcke, M; Sleegers, K; Sieben, A; Bäumer, V; Maes, G; Corsmit, E; Borroni, B; Padovani, A; Archetti, S; Perneczky, R; Diehl Schmid, J; de Mendonça, A; Miltenberger Miltenyi, G; Pereira, S; Pimentel, J; Nacmias, B; Bagnoli, S; Sorbi, S; Graff, C; Chiang, Hh; Westerlund, M; Sanchez Valle, R; Llado, A; Gelpi, E; Santana, I; Almeida, Mr; Santiago, B; Frisoni, G; Zanetti, O; Bonvicini, C; Synofzik, M; Maetzler, W; Vom Hagen, Jm; Schöls, L; Heneka, Mt; Jessen, F; Matej, R; Parobkova, E; Kovacs, Gg; Ströbel, T; Sarafov, S; Tournev, I; Jordanova, A; Danek, A; Arzberger, T; Fabrizi, Gian Maria; Testi, Silvia; Salmon, E; Santens, P; Martin, Jj; Cras, P; Vandenberghe, R; De Deyn, Pp; Cruts, M; Van Broeckhoven, C; on behalf of the European Early Onset Dementia, Consortium
Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of presenilin 2 gene. 1-gen-2012 Testi, Silvia; Fabrizi, Gian Maria; Pompanin, S.; Cagnin, A.
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 1-gen-2020 Gentile, Luca; Russo, Massimo; Fabrizi, Gian Maria; Taioli, Federica; Ferrarini, Moreno; Testi, Silvia; Alfonzo, Annalisa; Aguennouz, M'Hammed; Toscano, Antonio; Vita, Giuseppe; Mazzeo, Anna
Co-Occurrence of the C9ORF72 Expansion and a Novel GRN Mutation in a Family with Alternative Expression of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. 1-gen-2015 Testi, Silvia; Tamburin, Stefano; Zanette, G.; Fabrizi, Gian Maria
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 1-gen-2011 Taioli, Federica; Cabrini, Ilaria; Cavallaro, Tiziana; Simonati, Alessandro; Testi, Silvia; Fabrizi, Gian Maria
Diagnosis of human prion disease using real-time quaking-induced conversion testing of olfactory mucosa and cerebrospinal fluid samples 1-gen-2017 Bongianni, Matilde; Orrù, Christina; Groveman, Bradley R; Sacchetto, Luca; Fiorini, Michele; Tonoli, Giovanni; Triva, Giorgio; Capaldi, Stefano; Testi, Silvia; Ferrari, Sergio; Cagnin, Annachiara; Ladogana, Anna; Poleggi, Anna; Colaizzo, Elisa; Tiple, Dorina; Vaianella, Luana; Castriciano, Santina; Marchioni, Daniele; Hughson, Andrew G; Imperiale, Daniele; Cattaruzza, Tatiana; Fabrizi, Gian Maria; Pocchiari, Maurizio; Monaco, Salvatore; Caughey, Byron; Zanusso, Gianluigi
Dissecting the genetic heterogeneity of familial dementias 1-gen-2011 Testi, Silvia
High diagnostic accuracy of RT-QuIC assay in a prospective study of patients with suspected sCJD 1-gen-2020 Fiorini, Michele; Iselle, Giorgia; Perra, Daniela; Bongianni, Matilde; Capaldi, Stefano; Sacchetto, Luca; Ferrari, Sergio; Mombello, Aldo; Vascellari, Sarah; Testi, Silvia; Monaco, Salvatore; Zanusso, Gianluigi
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 1-gen-2009 Fabrizi, Gian Maria; Taioli, Federica; Ferrarini, Moreno; Cabrini, Ilaria; Testi, Silvia; Cavallaro, Tiziana; Rizzuto, Nicolo'
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 1-gen-2012 Testi, Silvia; Malerba, Giovanni; Ferrarini, Moreno; Ragno, M.; Pradotto, L.; Mauro, A.; Fabrizi, Gian Maria
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 1-gen-2011 Filosto, M.; Scarpelli, Mauro; Tonin, Paola; Testi, Silvia; Cotelli, M. S.; Rossi, M.; Salvi, A.; Grottolo, A.; Vielmi, V.; Todeschini, A.; Fabrizi, Gian Maria; Padovani, A.; Tomelleri, Giuliano
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 1-gen-2014 van der Zee, J; Van Langenhove, T; Kovacs, Gg; Dillen, L; Deschamps, W; Engelborghs, S; Matěj, R; Vandenbulcke, M; Sieben, A; Dermaut, B; Smets, K; Van Damme, P; Merlin, C; Laureys, A; Van Den Broeck, M; Mattheijssens, M; Peeters, K; Benussi, L; Binetti, G; Ghidoni, R; Borroni, B; Padovani, A; Archetti, S; Pastor, P; Razquin, C; Ortega Cubero, S; Hernández, I; Boada, M; Ruiz, A; de Mendonça, A; Miltenberger Miltényi, G; do Couto, Fs; Sorbi, S; Nacmias, B; Bagnoli, S; Graff, C; Chiang, Hh; Thonberg, H; Perneczky, R; Diehl Schmid, J; Alexopoulos, P; Frisoni, Gb; Bonvicini, C; Synofzik, M; Maetzler, W; Vom Hagen, Jm; Schöls, L; Haack, Tb; Strom, Tm; Prokisch, H; Dols Icardo, O; Clarimón, J; Lleó, A; Santana, I; Almeida, Mr; Santiago, B; Heneka, Mt; Jessen, F; Ramirez, A; Sanchez Valle, R; Llado, A; Gelpi, E; Sarafov, S; Tournev, I; Jordanova, A; Parobkova, E; Fabrizi, Gian Maria; Testi, Silvia; Salmon, E; Ströbel, T; Santens, P; Robberecht, W; De Jonghe, P; Martin, Jj; Cras, P; Vandenberghe, R; De Deyn, Pp; Cruts, M; Sleegers, K; Van Broeckhoven, C.
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy 1-gen-2021 Tagliapietra, Matteo; Cardellini, Davide; Ferrarini, Moreno; Testi, Silvia; Ferrari, Sergio; Monaco, Salvatore; Cavallaro, Tiziana; Fabrizi, Gian Maria
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 1-gen-2020 Campagnolo, Marta; Taioli, Federica; Cacciavillani, Mario; Ruiz, Marta; Luigetti, Marco; Salvalaggio, Alessandro; Castellani, Francesca; Testi, Silvia; Ferrarini, Moreno; Cavallaro, Tiziana; Gasparotti, Roberto; Fabrizi, Gian Maria; Briani, Chiara
TBK1 mutation spectrum in an extended european patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis 1-gen-2017 van der Zee, Julie; Gijselinck, Ilse; Van Mossevelde, Sara; Perrone, Federica; Dillen, Lubina; Heeman, Bavo; Bäumer, Veerle; Engelborghs, Sebastiaan; De Bleecker, Jan; Baets, Jonathan; Gelpi, Ellen; Rojas García, Ricardo; Clarimón, Jordi; Lleó, Alberto; Diehl Schmid, Janine; Alexopoulos, Panagiotis; Perneczky, Robert; Synofzik, Matthis; Just, Jennifer; Schöls, Ludger; Graff, Caroline; Thonberg, Håkan; Borroni, Barbara; Padovani, Alessandro; Jordanova, Albena; Sarafov, Stayko; Tournev, Ivailo; de Mendonça, Alexandre; Miltenberger Miltényi, Gabriel; Simões do Couto, Frederico; Ramirez, Alfredo; Jessen, Frank; Heneka, Michael T; Gómez Tortosa, Estrella; Danek, Adrian; Cras, Patrick; Vandenberghe, Rik; De Jonghe, Peter; De Deyn, Peter P; Sleegers, Kristel; Cruts, Marc; Van Broeckhoven, Christine; Goeman, Johan; Nuytten, Dirk; Smets, Katrien; Robberecht, Wim; Damme, Philip Van; Bleecker, Jan De; Santens, Patrick; Dermaut, Bart; Versijpt, Jan; Michotte, Alex; Ivanoiu, Adrian; Deryck, Olivier; Bergmans, Bruno; Delbeck, Jean; Bruyland, Marc; Willems, Christiana; Salmon, Eric; Pastor, Pau; Ortega Cubero, Sara; Benussi, Luisa; Ghidoni, Roberta; Binetti, Giuliano; Hernández, Isabel; Boada, Mercè; Ruiz, Agustín; Sorbi, Sandro; Nacmias, Benedetta; Bagnoli, Silvia; Sorbi, Sandro; Sanchez Valle, Raquel; Llado, Albert; Santana, Isabel; Rosário Almeida, Maria; Frisoni, Giovanni B; Maetzler, Walter; Matej, Radoslav; Fraidakis, Matthew J; Kovacs, Gabor G; Fabrizi, Gian Maria; Testi, Silvia
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 1-gen-2012 Stancanelli, C.; Taioli, Federica; Testi, Silvia; Fabrizi, Gian Maria; Arena, M. G.; Granata, F.; Russo, M.; Gentile, L.; Vita, G.; Mazzeo, A.