GOTTA, FABIO

GOTTA, FABIO  

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

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Titolo Data di pubblicazione Autore(i) File
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 1-gen-2022 Geroldi, Alessandro; Trevisan, Lucia; Gaudio, Andrea; Gotta, Fabio; Patrone, Serena; Origone, Paola; Grandis, Marina; Gemelli, Chiara; Schenone, Angelo; Accogli, Andrea; Zara, Federico; Mandich, Paola; Bellone, Emilia
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 1-gen-2020 Gotta, F; Lamp, M; Geroldi, A; Trevisan, L; Origone, P; Fugazza, G; Fabbri, S; Nesti, C; Rubegni, A; Morani, F; Santorelli, Fm; Bellone, E; Mandich, P.
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 1-gen-2018 Grandis, M; Geroldi, A; Gulli, R; Manganelli, F; Gotta, F; Lamp, M; Origone, P; Trevisan, L; Gemelli, C; Fabbri, S; Schenone, A; Tozza, S; Santoro, L; Bellone, E; Mandich, P.
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. 1-gen-2015 Mandich, Paola; Mantero, V; Verdiani, Simonetta; Gotta, Fabio; Caponnetto, C; Bellone, E; Ferrandes, G; Origone, Paola
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 1-gen-2022 Gemelli, C.; Geroldi, A.; Massucco, S.; Trevisan, L.; Callegari, I.; Marinelli, L.; Ursino, G.; Hamedani, M.; Mennella, G.; Stara, S.; Maggi, G.; Mori, L.; Schenone, C.; Gotta, F.; Patrone, S.; Mammi, A.; Origone, P.; Prada, V.; Nobbio, L.; Mandich, P.; Schenone, A.; Bellone, E.; Grandis, M.
Quiz page february 2015: renal colic in an adolescent. 1-gen-2015 Piccoli, Gb; Cimmino, Ma; Lamp, Merit; Gotta, Fabio; Vigotti, Fn; Priola, Am; Veltri, A; Mandich, Paola
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 1-gen-2018 Origone, P; Gotta, F; Lamp, M; Trevisan, L; Geroldi, A; Massucco, D; Grazzini, M; Massa, F; Ticconi, F; Bauckneht, M; Marchese, R; Abbruzzese, G; Bellone, E; Mandich, P.
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 1-gen-2018 Lamp, M; Origone, P; Geroldi, A; Verdiani, S; Gotta, F; Caponnetto, C; Devigili, G; Verriello, L; Scialò, C; Cabona, C; Canosa, A; Vanni, I; Bellone, E; Eleopra, R; Mandich, P.
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 1-gen-2017 Geroldi, Alessandro; Lastella, P; Patruno, M; Gotta, Fabio; Resta, N; Devigili, G; Sabbà, C; Gulli, Rossella; Lamp, Merit; Origone, Paola; Mandich, Paola; Bellone, Emilia