Free Access
Issue |
Med Sci (Paris)
Volume 32, Novembre 2016
Les cahiers de myologie
|
|
---|---|---|
Page(s) | 52 - 54 | |
Section | Myologie dans le monde | |
DOI | https://doi.org/10.1051/medsci/201632s215 | |
Published online | 21 November 2016 |
- Norio R. Finnish disease heritage I: characteristics, causes, background. Hum Genet 2003 ; 112 : 441–456. [PubMed] [Google Scholar]
- Santavuori P, Somer H, Sainio K, et al. Muscle-eye-brain disease (MEB). Brain Dev 1989 ; 11 : 147–153. [CrossRef] [PubMed] [Google Scholar]
- Kalimo H, Savontaus ML, Lang H, et al. X-linked myopathy with excessive autophagy: a new hereditary muscle disease. Ann Neurol 1988 ; 23 : 258–265. [CrossRef] [PubMed] [Google Scholar]
- Somer H, Dubowitz V, Donner M Creatine kinase isoenzymes in neuromuscular diseases. Neuropadiatrie 1975 ; 6 : 239–258. [CrossRef] [PubMed] [Google Scholar]
- Varilo T, Paunio T, Parker A, et al. The interval of linkage disequilibrium (LD) detected with microsatellite and SNP markers in chromosomes of Finnish populations with different histories. Hum Mol Genet 2003 ; 12 : 51–59. [CrossRef] [PubMed] [Google Scholar]
- Haltia M, Levy E, Meretoja J, et al. Gelsolin gene mutation-at codon 187-in familial amyloidosis, Finnish: DNA-diagnostic assay. Am J Med Genet 1992 ; 42 : 357–359. [CrossRef] [PubMed] [Google Scholar]
- Udd B, Kääriäinen H, Somer H Muscular dystrophy with separate phenotypes in a large family. Muscle Nerve 1991 ; 14 : 1050–1058. [CrossRef] [PubMed] [Google Scholar]
- Udd B, Vihola A, Sarparanta J, et al. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology 2005 ; 64 : 636–642. [CrossRef] [PubMed] [Google Scholar]
- Hackman P, Vihola A, Haravuori H, et al. Tibial muscular dystrophy (TMD) is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal muscle protein titin. Am J Hum Genet 2002 ; 71 : 492–500. [CrossRef] [PubMed] [Google Scholar]
- Wallgren-Pettersson C, Rapola J, Donner M Pathology of congenital nemaline myopathy. A follow-up study. J Neurol Sci 1988 ; 83 : 243–257. [CrossRef] [Google Scholar]
- Ignatius J. The natural history of severe spinal muscular atrophy: further evidence for clinical subtypes. Neuromuscul Disord 1994 ; 4 : 527–528. [CrossRef] [PubMed] [Google Scholar]
- Penttilä S, Jokela M, Bouquin H, et al. Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. Ann Neurol 2015 ; 77 : 163–172. [CrossRef] [PubMed] [Google Scholar]
- Udd B, Meola G, Krahe R, et al. Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3–5 December 2010, Naarden. The Netherlands. Neuromuscul Disord 2011 ; 21 : 443–450. [CrossRef] [Google Scholar]
- Udd B, Meola G, Krahe R, et al. 140th ENMC International workshop: myotonic dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management. Neuromuscul Disord 2006 ; 16 : 403–413. [CrossRef] [PubMed] [Google Scholar]
- Udd B, Meola G, Krahe R, et al. Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14–16February 2003, Naarden. The Netherlands. Neuromuscul Disord 2003 ; 13 : 589–596. [CrossRef] [PubMed] [Google Scholar]
- Tyynismaa H, Carroll CJ, Raimundo N, et al. Mitochondrial myopathy induces a starvation-like response. Hum Mol Genet 2010 ; 19 : 3948–3958. [CrossRef] [PubMed] [Google Scholar]
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