Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.
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Myotonic disorders: A review articlePrevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.Eccentric exercise in aging and diseased skeletal muscle: good or bad?High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms.The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome.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.Myotonic dystrophy: RNA pathogenesis comes into focus.The muscular dystrophies: from genes to therapies.Relative risks for comorbidities associated with myotonic dystrophy: A population-based analysis.Watson-Crick-like pairs in CCUG repeats: evidence for tautomeric shifts or protonation.Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia.A Z-DNA sequence reduces slipped-strand structure formation in the myotonic dystrophy type 2 (CCTG) x (CAGG) repeatPremutation allele pool in myotonic dystrophy type 2.Altered expression and splicing of Ca(2+) metabolism genes in myotonic dystrophies DM1 and DM2.The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based StudyMost expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies.Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.Skeletal muscle features in myotonic dystrophy and sarcopenia: do similar nuclear mechanisms lead to skeletal muscle wasting?The diagnosis and treatment of myotonic disorders.Recent advances in myotonic dystrophy type 2.Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.Sleep-Wake Cycle and Daytime Sleepiness in the Myotonic Dystrophies(CCUG)n RNA toxicity in a Drosophila model of myotonic dystrophy type 2 (DM2) activates apoptosis.Cultured myoblasts from patients affected by myotonic dystrophy type 2 exhibit senescence-related features: ultrastructural evidence.Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.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.Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.Muscleblind-like1 undergoes ectopic relocation in the nuclei of skeletal muscles in myotonic dystrophy and sarcopenia.Improving preimplantation genetic diagnosis (PGD) reliability by selection of sperm donor with the most informative haplotype.Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders.Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.Nuclear ribonucleoprotein-containing foci increase in size in non-dividing cells from patients with myotonic dystrophy type 2.Muscle biopsy.Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers.Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.Abnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy.
P2860
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P2860
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.
description
2003 nî lūn-bûn
@nan
2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Confirmation of the type 2 myo ...... s an ancestral founder effect.
@ast
Confirmation of the type 2 myo ...... s an ancestral founder effect.
@en
type
label
Confirmation of the type 2 myo ...... s an ancestral founder effect.
@ast
Confirmation of the type 2 myo ...... s an ancestral founder effect.
@en
prefLabel
Confirmation of the type 2 myo ...... s an ancestral founder effect.
@ast
Confirmation of the type 2 myo ...... s an ancestral founder effect.
@en
P2093
P2860
P50
P356
P1476
Confirmation of the type 2 myo ...... s an ancestral founder effect.
@en
P2093
Andre Kohler
Armand Bottani
Bjarne Udd
Bruno Eymard
Carmen Navarro
Charles A Thornton
Frank Lehmann-Horn
Fred A Wright
Guillaume Bassez
Linda L Bachinski
P2860
P304
P356
10.1086/378566
P407
P577
2003-09-10T00:00:00Z