Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2003 | 1 |
2013 | 1 |
2015 | 3 |
2016 | 1 |
2017 | 1 |
2024 | 0 |
Search Results
6 results
Results by year
Filters applied: . Clear all
Page 1
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134.
Sci Transl Med. 2015.
PMID: 25589632
Free PMC article.
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH.
Ceyhan-Birsoy O, et al.
Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23.
Neurology. 2013.
PMID: 23975875
Free PMC article.
Item in Clipboard
Tibial muscular dystrophy in a Belgian family.
Van den Bergh PY, Bouquiaux O, Verellen C, Marchand S, Richard I, Hackman P, Udd B.
Van den Bergh PY, et al.
Ann Neurol. 2003 Aug;54(2):248-51. doi: 10.1002/ana.10647.
Ann Neurol. 2003.
PMID: 12891679
Item in Clipboard
Biophysical characterization of naturally occurring titin M10 mutations.
Rudloff MW, Woosley AN, Wright NT.
Rudloff MW, et al.
Protein Sci. 2015 Jun;24(6):946-55. doi: 10.1002/pro.2670. Epub 2015 Apr 2.
Protein Sci. 2015.
PMID: 25739468
Free PMC article.
Item in Clipboard
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Charton K, Sarparanta J, Vihola A, Milic A, Jonson PH, Suel L, Luque H, Boumela I, Richard I, Udd B.
Charton K, et al.
Hum Mol Genet. 2015 Jul 1;24(13):3718-31. doi: 10.1093/hmg/ddv116. Epub 2015 Apr 15.
Hum Mol Genet. 2015.
PMID: 25877298
Item in Clipboard
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Evilä A, Palmio J, Vihola A, Savarese M, Tasca G, Penttilä S, Lehtinen S, Jonson PH, De Bleecker J, Rainer P, Auer-Grumbach M, Pouget J, Salort-Campana E, Vilchez JJ, Muelas N, Olive M, Hackman P, Udd B.
Evilä A, et al.
Mol Neurobiol. 2017 Nov;54(9):7212-7223. doi: 10.1007/s12035-016-0242-3. Epub 2016 Oct 29.
Mol Neurobiol. 2017.
PMID: 27796757
Item in Clipboard
Cite
Cite