Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

100 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
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. Gotta F, et al. Among authors: trevisan l. Ann Hum Genet. 2020 Sep;84(5):417-422. doi: 10.1111/ahg.12384. Epub 2020 Apr 12. Ann Hum Genet. 2020. PMID: 32281099
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.
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.
100 results