The myotonic dystrophies: molecular, clinical, and therapeutic challenges.
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A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defectsRNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense interventionMuscle wasting in myotonic dystrophies: a model of premature agingNon-coding RNAs in muscle dystrophiesNoncoding RNAs: emerging players in muscular dystrophiesCongenital muscular dystrophy: from muscle to brainThe unstable repeats--three evolving faces of neurological diseaseMolecular genetics and genetic testing in myotonic dystrophy type 1.Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disabilityCell membrane integrity in myotonic dystrophy type 1: implications for therapyHypogonadism Associated with Cyp19a1 (Aromatase) Posttranscriptional Upregulation in Celf1 Knockout Mice.Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability.Expanded CCUG repeat RNA expression in Drosophila heart and muscle trigger Myotonic Dystrophy type 1-like phenotypes and activate autophagocytosis genes.Autoregulation of MBNL1 function by exon 1 exclusion from MBNL1 transcript.Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A geneAlternative splicing regulates vesicular trafficking genes in cardiomyocytes during postnatal heart development.Intracellular Distribution and Nuclear Activity of Antisense Oligonucleotides After Unassisted Uptake in Myoblasts and Differentiated Myotubes In Vitro.Splicing biomarkers of disease severity in myotonic dystrophyAbnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.Diagnostic odyssey of patients with myotonic dystrophyRNA-protein interactions in unstable microsatellite diseases.MBNL proteins and their target RNAs, interaction and splicing regulation.Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease.CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndromeThree novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy.Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2.Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.Triadopathies: an emerging class of skeletal muscle diseases.Disease mechanisms and therapeutic approaches in spinal muscular atrophy.RNA-binding protein misregulation in microsatellite expansion disordersTherapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy.Myotonic Dystrophy Type 1 Complicated With Peripheral Arterial Occlusive Disease: A Case ReportIdentification and characterization of modified antisense oligonucleotides targeting DMPK in mice and nonhuman primates for the treatment of myotonic dystrophy type 1.Cooperation meets competition in microRNA-mediated DMPK transcript regulation.Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study.Watson-Crick-like pairs in CCUG repeats: evidence for tautomeric shifts or protonation.Muscleblind-like 1 suppresses breast cancer metastatic colonization and stabilizes metastasis suppressor transcriptsA low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle.Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study.Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy.
P2860
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P2860
The myotonic dystrophies: molecular, clinical, and therapeutic challenges.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
The myotonic dystrophies: molecular, clinical, and therapeutic challenges.
@en
type
label
The myotonic dystrophies: molecular, clinical, and therapeutic challenges.
@en
prefLabel
The myotonic dystrophies: molecular, clinical, and therapeutic challenges.
@en
P1433
P1476
The myotonic dystrophies: molecular, clinical, and therapeutic challenges.
@en
P2093
Bjarne Udd
Ralf Krahe
P304
P356
10.1016/S1474-4422(12)70204-1
P577
2012-10-01T00:00:00Z