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

1,186 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Barone V, Del Re V, Gamberucci A, Polverino V, Galli L, Rossi D, Costanzi E, Toniolo L, Berti G, Malandrini A, Ricci G, Siciliano G, Vattemi G, Tomelleri G, Pierantozzi E, Spinozzi S, Volpi N, Fulceri R, Battistutta R, Reggiani C, Sorrentino V. Barone V, et al. Among authors: galli l. Hum Mutat. 2017 Dec;38(12):1761-1773. doi: 10.1002/humu.23338. Epub 2017 Sep 26. Hum Mutat. 2017. PMID: 28895244
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
Rossi D, Vezzani B, Galli L, Paolini C, Toniolo L, Pierantozzi E, Spinozzi S, Barone V, Pegoraro E, Bello L, Cenacchi G, Vattemi G, Tomelleri G, Ricci G, Siciliano G, Protasi F, Reggiani C, Sorrentino V. Rossi D, et al. Among authors: galli l. Hum Mutat. 2014 Oct;35(10):1163-70. doi: 10.1002/humu.22631. Epub 2014 Sep 10. Hum Mutat. 2014. PMID: 25116801 Free PMC article.
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.
Vattemi GNA, Rossi D, Galli L, Catallo MR, Pancheri E, Marchetto G, Cisterna B, Malatesta M, Pierantozzi E, Tonin P, Sorrentino V. Vattemi GNA, et al. Among authors: galli l. Eur J Neurosci. 2022 Aug;56(3):4214-4223. doi: 10.1111/ejn.15728. Epub 2022 Jun 13. Eur J Neurosci. 2022. PMID: 35666680 Free PMC article.
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
Rossi D, Palmio J, Evilä A, Galli L, Barone V, Caldwell TA, Policke RA, Aldkheil E, Berndsen CE, Wright NT, Malfatti E, Brochier G, Pierantozzi E, Jordanova A, Guergueltcheva V, Romero NB, Hackman P, Eymard B, Udd B, Sorrentino V. Rossi D, et al. Among authors: galli l. PLoS One. 2017 Oct 26;12(10):e0186642. doi: 10.1371/journal.pone.0186642. eCollection 2017. PLoS One. 2017. PMID: 29073160 Free PMC article.
1,186 results