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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

66 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy.
Hirano K, Tanaka T, Ikeda Y, Yamaguchi S, Zaima N, Kobayashi K, Suzuki A, Sakata Y, Sakata Y, Kobayashi K, Toda T, Fukushima N, Ishibashi-Ueda H, Tavian D, Nagasaka H, Hui SP, Chiba H, Sawa Y, Hori M. Hirano K, et al. Among authors: tavian d. Biochem Biophys Res Commun. 2014 Jan 10;443(2):574-9. doi: 10.1016/j.bbrc.2013.12.003. Epub 2013 Dec 8. Biochem Biophys Res Commun. 2014. PMID: 24332944
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.
Missaglia S, Maggi L, Mora M, Gibertini S, Blasevich F, Agostoni P, Moro L, Cassandrini D, Santorelli FM, Gerevini S, Tavian D. Missaglia S, et al. Among authors: tavian d. Neuromuscul Disord. 2017 May;27(5):481-486. doi: 10.1016/j.nmd.2017.01.011. Epub 2017 Jan 17. Neuromuscul Disord. 2017. PMID: 28258942 Free PMC article.
Further evidence supporting the association between 5HTR2C gene and bipolar disorder.
Mazza M, Mandelli L, Martinotti G, Di Nicola M, Tavian D, Negri G, Colombo E, Missaglia S, De Ronchi D, Colombo R, Janiri L, Serretti A. Mazza M, et al. Among authors: tavian d. Psychiatry Res. 2010 Dec 30;180(2-3):151-2. doi: 10.1016/j.psychres.2009.12.006. Epub 2010 May 21. Psychiatry Res. 2010. PMID: 20494452
Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene.
Pasanisi MB, Missaglia S, Cassandrini D, Salerno F, Farina S, Andreini D, Agostoni P, Morandi L, Mora M, Tavian D. Pasanisi MB, et al. Among authors: tavian d. Int J Cardiol. 2016 Mar 15;207:165-7. doi: 10.1016/j.ijcard.2016.01.137. Epub 2016 Jan 9. Int J Cardiol. 2016. PMID: 26803235 Free PMC article. No abstract available.
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM.
Tavian D, Missaglia S, Castagnetta M, Degiorgio D, Pennisi EM, Coleman RA, Dell'Era P, Mora C, Angelini C, Coviello DA. Tavian D, et al. Mol Genet Metab. 2017 May;121(1):28-34. doi: 10.1016/j.ymgme.2017.03.009. Epub 2017 Apr 3. Mol Genet Metab. 2017. PMID: 28391974 Free PMC article.
A myopathy with unusual features caused by PNPLA2 gene mutations.
Pennisi EM, Missaglia S, Dimauro S, Bernardi C, Akman HO, Tavian D. Pennisi EM, et al. Among authors: tavian d. Muscle Nerve. 2015 Apr;51(4):609-13. doi: 10.1002/mus.24477. Epub 2015 Feb 28. Muscle Nerve. 2015. PMID: 25287355
66 results