140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management
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ZNF9 activation of IRES-mediated translation of the human ODC mRNA is decreased in myotonic dystrophy type 2Pharmacological treatment for muscle weakness and wasting in myotonic dystrophyMyotonic disorders: A review articleIdentification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotypeClinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseasesPatient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2).High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.High disease impact of myotonic dystrophy type 2 on physical and mental functioningThe Overlap between Fibromyalgia Syndrome and Myotonia CongenitaSelective inhibition of MBNL1-CCUG interaction by small molecules toward potential therapeutic agents for myotonic dystrophy type 2 (DM2)On the Applicability of Elastic Network Models for the Study of RNA CUG Trinucleotide Repeat Overexpansion.Laboratory abnormalities in patients with myotonic dystrophy type 2Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia.Altered expression and splicing of Ca(2+) metabolism genes in myotonic dystrophies DM1 and DM2.Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1.Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies.Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism.Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes.Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders.Pain in patients with myotonic dystrophy type 2: a postal survey in Finland.Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2.Core Clinical Phenotypes in Myotonic Dystrophies.High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2.Distribution and Structure of DM2 Repeat Tract Alleles in the German Population.
P2860
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P2860
140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
140th ENMC International Works ...... with guidelines on management
@ast
140th ENMC International Works ...... with guidelines on management
@en
140th ENMC International Works ...... with guidelines on management
@nl
type
label
140th ENMC International Works ...... with guidelines on management
@ast
140th ENMC International Works ...... with guidelines on management
@en
140th ENMC International Works ...... with guidelines on management
@nl
prefLabel
140th ENMC International Works ...... with guidelines on management
@ast
140th ENMC International Works ...... with guidelines on management
@en
140th ENMC International Works ...... with guidelines on management
@nl
P2093
P3181
P1476
140th ENMC International Works ...... with guidelines on management
@en
P2093
C Thornton
L P W Ranum
P304
P3181
P356
10.1016/J.NMD.2006.03.010
P407
P577
2006-06-01T00:00:00Z