Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
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Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophyIdentification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophyMuscle channelopathies and critical points in functional and genetic studies.Comparative genomics and molecular dynamics of DNA repeats in eukaryotesAltered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout miceThe heart and cardiac pacing in Steinert diseaseMolecular genetics and genetic testing in myotonic dystrophy type 1.Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney diseaseGastric emptying in myotonic dystrophyCAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12pChromosomal distribution of 320 genes from a brain cDNA libraryBiological Efficacy and Toxicity of Diamidines in Myotonic Dystrophy Type 1 Models.Ultrasound-enhanced delivery of morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model miceMouse homologues of human hereditary disease.A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.Accurate characterization of the tyrosine hydroxylase forensic allele 9.3 through development of electrospray ionization Fourier transform ion cyclotron resonance mass spectrometry.Usefulness of clinical and electrocardiographic data for predicting adverse cardiac events in patients with myotonic dystrophy.Genetic anticipation and musculoskeletal diseaseTargeting toxic RNAs that cause myotonic dystrophy type 1 (DM1) with a bisamidinium inhibitor.Instability versus predictability: the molecular diagnosis of myotonic dystrophy.Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populationsMinimal expression of myotonic dystrophy: a clinical and molecular analysis.The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.Presymptomatic diagnosis of myotonic dystrophyExpansion of the myotonic dystrophy gene in Italian and Spanish patients.A study of DNA methylation in myotonic dystrophy.A specific mutation for Huntington's disease.Dynamic mutations on the move.Gametic but not somatic instability of CAG repeat length in Huntington's disease.Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.The natural history of congenital myotonic dystrophy: mortality and long term clinical aspectsFrench myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertionIntelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification.A case of paternally inherited congenital myotonic dystrophy.Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.Ascertainment of myotonic dystrophy through cataract by selective screening.
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P2860
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
description
article publié dans la revue scientifique Nature
@fr
scientific article published in Nature
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в Nature в лютому 1992
@uk
name
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
@en
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
@nl
type
label
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
@en
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
@nl
prefLabel
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
@en
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
@nl
P2093
P356
P1433
P1476
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
@en
P2093
A J Buckler
D E Housman
H G Harley
P S Harper
S A Rundle
P2888
P356
10.1038/355545A0
P407
P577
1992-02-06T00:00:00Z
P6179
1030097475