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Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus.
Grandis M, Obici L, Luigetti M, Briani C, Benedicenti F, Bisogni G, Canepa M, Cappelli F, Danesino C, Fabrizi GM, Fenu S, Ferrandes G, Gemelli C, Manganelli F, Mazzeo A, Melchiorri L, Perfetto F, Pradotto LG, Rimessi P, Tini G, Tozza S, Trevisan L, Pareyson D, Mandich P. Grandis M, et al. Among authors: trevisan l. Orphanet J Rare Dis. 2020 Dec 14;15(1):348. doi: 10.1186/s13023-020-01633-z. Orphanet J Rare Dis. 2020. PMID: 33317601 Free PMC article.
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier.
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. Origone P, et al. Among authors: trevisan l. Cerebellum Ataxias. 2018 Mar 14;5:7. doi: 10.1186/s40673-018-0086-x. eCollection 2018. Cerebellum Ataxias. 2018. PMID: 29564144 Free PMC article.
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
Gemelli C, Traverso M, Trevisan L, Fabbri S, Scarsi E, Carlini B, Prada V, Mongini T, Ruggiero L, Patrone S, Gallone S, Iodice R, Pisciotta L, Zara F, Origone P, Rota E, Minetti C, Bruno C, Schenone A, Mandich P, Fiorillo C, Grandis M. Gemelli C, et al. Among authors: trevisan l. Muscle Nerve. 2022 Jan;65(1):96-104. doi: 10.1002/mus.27448. Epub 2021 Nov 8. Muscle Nerve. 2022. PMID: 34687219 Free PMC article.
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
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. Gemelli C, et al. Among authors: trevisan l. Life (Basel). 2022 Mar 10;12(3):402. doi: 10.3390/life12030402. Life (Basel). 2022. PMID: 35330153 Free PMC article.
A misleading presentation of Mohr-Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?
Geroldi A, Trevisan L, Gaudio A, Gotta F, Patrone S, Origone P, Grandis M, Gemelli C, Schenone A, Accogli A, Zara F, Mandich P, Bellone E. Geroldi A, et al. Among authors: trevisan l. Parkinsonism Relat Disord. 2022 Sep;102:54-56. doi: 10.1016/j.parkreldis.2022.07.021. Epub 2022 Aug 5. Parkinsonism Relat Disord. 2022. PMID: 35947939 No abstract available.
95 results