Pages that link to "Q47991794"

The following pages link to Genetic mapping of a second myotonic dystrophy locus (Q47991794):

Displaying 50 items.

• Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy (Q24290177) ‎ (← links)
• Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype (Q28115791) ‎ (← links)
• Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy (Q28504484) ‎ (← links)
• Therapeutics development in myotonic dystrophy type 1. (Q30425796) ‎ (← links)
• Repeat length and RNA expression level are not primary determinants in CUG expansion toxicity in Drosophila models (Q33316025) ‎ (← links)
• Inherited skeletal muscle disorders (Q33804446) ‎ (← links)
• Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms. (Q33867667) ‎ (← links)
• 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 (Q33906048) ‎ (← links)
• Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract (Q33906053) ‎ (← links)
• Insulin receptor splicing alteration in myotonic dystrophy type 2. (Q33910364) ‎ (← links)
• Triplet repeat expansion in neuromuscular disease (Q33936621) ‎ (← links)
• Myotonic dystrophy: the role of RNA CUG triplet repeats (Q34068475) ‎ (← links)
• 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). (Q34095613) ‎ (← links)
• Clinical and genetic heterogeneity in myotonic dystrophies (Q34096504) ‎ (← links)
• Diagnostic odyssey of patients with myotonic dystrophy (Q34172180) ‎ (← links)
• Triplet repeats, RNA secondary structure and toxic gain-of-function models for pathogenesis (Q34446513) ‎ (← links)
• Myotonic dystrophy--a multigene disorder. (Q34446614) ‎ (← links)
• Dominantly inherited, non-coding microsatellite expansion disorders (Q34699401) ‎ (← links)
• Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. (Q34778128) ‎ (← links)
• Myotonic dystrophy type 2. (Q34830396) ‎ (← links)
• Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities (Q35621987) ‎ (← links)
• Myotonic dystrophy: RNA pathogenesis comes into focus (Q35738537) ‎ (← links)
• Myotonic dystrophy type 2 and related myotonic disorders (Q35926958) ‎ (← links)
• Cerebral and muscle MRI abnormalities in myotonic dystrophy (Q35954020) ‎ (← links)
• Genetics and molecular pathogenesis of the myotonic dystrophies (Q36022223) ‎ (← links)
• Diseases of unstable repeat expansion: mechanisms and common principles (Q36277192) ‎ (← links)
• Increased cancer risks in myotonic dystrophy. (Q36399427) ‎ (← links)
• Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. (Q36403895) ‎ (← links)
• Non-coding RNAs in the nervous system (Q36523588) ‎ (← links)
• Dysregulated A to I RNA editing and non-coding RNAs in neurodegeneration (Q36550804) ‎ (← links)
• Noncoding RNAs and RNA editing in brain development, functional diversification, and neurological disease (Q36872209) ‎ (← links)
• CLIPing the brain: studies of protein-RNA interactions important for neurodegenerative disorders (Q37223318) ‎ (← links)
• Pathogenic mechanisms of myotonic dystrophy (Q37414636) ‎ (← links)
• The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study (Q37589784) ‎ (← links)
• Repeat expansion disease: progress and puzzles in disease pathogenesis (Q37696972) ‎ (← links)
• Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy (Q37778406) ‎ (← links)
• The myotonic dystrophies: molecular, clinical, and therapeutic challenges (Q38045121) ‎ (← links)
• Skeletal muscle features in myotonic dystrophy and sarcopenia: do similar nuclear mechanisms lead to skeletal muscle wasting? (Q38048633) ‎ (← links)
• Neurodegeneration as an RNA disorder (Q38051910) ‎ (← links)
• The diagnosis and treatment of myotonic disorders (Q38093802) ‎ (← links)
• Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies (Q38209927) ‎ (← links)
• RNA Transcription and Maturation in Skeletal Muscle Cells are Similarly Impaired in Myotonic Dystrophy and Sarcopenia: The Ultrastructural Evidence (Q38240142) ‎ (← links)
• Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. (Q38299079) ‎ (← links)
• Structural and functional alterations of the cell nucleus in skeletal muscle wasting: the evidence in situ (Q38313536) ‎ (← links)
• A 5-year follow-up study of an atypical case of myotonic dystrophy (Q38411148) ‎ (← links)
• High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. (Q38601634) ‎ (← links)
• A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies (Q38703274) ‎ (← links)
• Roles for RNA-binding proteins in development and disease (Q38772987) ‎ (← links)
• Cultured myoblasts from patients affected by myotonic dystrophy type 2 exhibit senescence-related features: ultrastructural evidence (Q38852912) ‎ (← links)
• Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism (Q39012035) ‎ (← links)