Free Access
Med Sci (Paris)
Volume 33, Novembre 2017
Les Cahiers de Myologie
Page(s) 16 - 26
Section Dossier
Published online 15 November 2017
  1. Chauveau C, Bonnemann CG, Julien C, et al. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Mol Genet 2014 ; 23 : 980–991. [CrossRef] [PubMed] [Google Scholar]
  2. Savarese M, Sarparanta J, Vihola A, et al. Increasing role of Titin mutations in neuromuscular disorders. J Neuromuscul Dis 2016 ; 3 : 293–308. [CrossRef] [PubMed] [Google Scholar]
  3. Hackman P, Marchand S, Sarparanta J, et al. Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul Disord 2008 ; 18 : 922–928. [CrossRef] [PubMed] [Google Scholar]
  4. Van den Bergh PY, Bouquiaux O, Verellen C, et al. Tibial muscular dystrophy in a Belgian family. Ann Neurol 2003 ; 54 : 248–251. [CrossRef] [PubMed] [Google Scholar]
  5. Pollazzon M, Suominen T, Penttilä S, et al. The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. J Neurol 2010 ; 257 : 575–579. [CrossRef] [PubMed] [Google Scholar]
  6. Ohlsson M, Hedberg C, Brådvik B, et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain 2012 ; 135 : 1682–1694. [CrossRef] [PubMed] [Google Scholar]
  7. Pfeffer G, Elliott HR, Griffin H, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012 ; 135 : 1695–1713. [CrossRef] [PubMed] [Google Scholar]
  8. Palmio J, Evilä A, Chapon F, et al. Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry 2014 ; 85 : 345–353. [CrossRef] [PubMed] [Google Scholar]
  9. Toro C, Olivé M, Dalakas MC, et al. Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. BMC Neurol 2013 ; 13 : 29. [CrossRef] [PubMed] [Google Scholar]
  10. Yue D, Gao M, Zhu W, et al. New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. Neuromuscul Disord 2015 ; 25 : 172–176. [CrossRef] [PubMed] [Google Scholar]
  11. Izumi R, Niihori T, Aoki Y, et al. Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. J Hum Genet 2013 ; 58 : 259–266. [CrossRef] [PubMed] [Google Scholar]
  12. Pfeffer G, Joseph JT, Innes AM, et al. Titinopathy in a Canadian family sharing the British founder haplotype. Can J Neurol Sci 2014 ; 41 : 90–94. [CrossRef] [PubMed] [Google Scholar]
  13. Herman DS, Lam L, Taylor MR, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med 2012 ; 366 : 619–628. [Google Scholar]
  14. Evilä A, Palmio J, Vihola A, et al. Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy. Mol Neurobiol 2016 10 29. doi: 10.1007/s12035-016-0242-3. [Google Scholar]
  15. De Cid R, Ben Yaou R, Roudaut C, et al. A new titinopathy: childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy. Neurology 2015 ; 85 : 2126–2135. [Google Scholar]
  16. Evilä A, Vihola A, Sarparanta J, et al. Atypical phenotypes in titinopathies explained by second titin mutations. Ann Neurol 2014 ; 75 : 230–240. [CrossRef] [PubMed] [Google Scholar]
  17. Lange S, Xiang F, Yakovenko A, et al. The kinase domain of titin controls muscle gene expression and protein turnover. Science 2005 ; 308 : 1599–1603. [Google Scholar]
  18. Carmignac V, Salih MA, Quijano-Roy S, et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 2007; 61: 340–351. Erratum in: Ann Neurol 2012 ; 71 : 728. [CrossRef] [PubMed] [Google Scholar]
  19. Hackman P, Udd B, Bönnemann CG, Ferreiro A, Titinopathy Database Consortium. 219th ENMC international workshop. Titinopathies international database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016. Neuromuscul Disord 2017 ; 27 : 396–407. [CrossRef] [PubMed] [Google Scholar]

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.