Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.
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Myotonic disorders: A review articleAnalysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in MalaysiaAbnormal 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).Diagnostic odyssey of patients with myotonic dystrophyMBNL proteins and their target RNAs, interaction and splicing regulation.Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease.Myotonic dystrophy type 1 presenting with stroke-like episodes: a case report.Cancer risk among patients with myotonic muscular dystrophy.Relative risks for comorbidities associated with myotonic dystrophy: A population-based analysis.Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.Myotonic dystrophy mouse models: towards rational therapy development.Recent advances in myotonic dystrophy type 2.Sleep-Wake Cycle and Daytime Sleepiness in the Myotonic DystrophiesMedication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy.Cultured myoblasts from patients affected by myotonic dystrophy type 2 exhibit senescence-related features: ultrastructural evidence.Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism.Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes.Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.Application of a reliable and rapid polymerase chain reaction based method in the diagnosis of myotonic dystrophy type 1 (DM1) in India.Surgical Orthodontic Treatment of a Patient Affected by Type 1 Myotonic Dystrophy (Steinert Syndrome).Nuclear ribonucleoprotein-containing foci increase in size in non-dividing cells from patients with myotonic dystrophy type 2.Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2.Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink.Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2.Ophthalmic findings in myotonic dystrophy type 2: a case series.Frequency of DMPK mutation carriers in Korean women of childbearing age.Antisense oligonucleotides in neurological disorders.Core Clinical Phenotypes in Myotonic Dystrophies.Distribution and Structure of DM2 Repeat Tract Alleles in the German Population.Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophiesMyotonic dystrophy type 2 is rare in the Japanese population
P2860
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P2860
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.
description
2011 nî lūn-bûn
@nan
2011 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մարտին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Population frequency of myoton ...... e 2 (DM2) mutation in Finland.
@ast
Population frequency of myoton ...... e 2 (DM2) mutation in Finland.
@en
Population frequency of myoton ...... y of myotonic dystrophy type 2
@nl
type
label
Population frequency of myoton ...... e 2 (DM2) mutation in Finland.
@ast
Population frequency of myoton ...... e 2 (DM2) mutation in Finland.
@en
Population frequency of myoton ...... y of myotonic dystrophy type 2
@nl
prefLabel
Population frequency of myoton ...... e 2 (DM2) mutation in Finland.
@ast
Population frequency of myoton ...... e 2 (DM2) mutation in Finland.
@en
Population frequency of myoton ...... y of myotonic dystrophy type 2
@nl
P2093
P2860
P356
P1476
Population frequency of myoton ...... e 2 (DM2) mutation in Finland.
@en
P2093
Bjarne Udd
Keith A Baggerly
Linda L Bachinski
Peter Hackman
Ralf Krahe
Satu Auvinen
Tiina Suominen
P2860
P2888
P304
P356
10.1038/EJHG.2011.23
P577
2011-03-02T00:00:00Z