[HTML][HTML] Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …
Cellular toxicity of expanded RNA repeats: focus on RNA foci
M Wojciechowska, WJ Krzyzosiak - Human molecular genetics, 2011 - academic.oup.com
Discrete and punctate nuclear RNA foci are characteristic molecular hallmarks of
pathogenesis in myotonic dystrophy type 1 and type 2. Intranuclear RNA inclusions of …
pathogenesis in myotonic dystrophy type 1 and type 2. Intranuclear RNA inclusions of …
Common micro‐RNA signature in skeletal muscle damage and regeneration induced by Duchenne muscular dystrophy and acute ischemia
S Greco, M De Simone, C Colussi… - The FASEB …, 2009 - Wiley Online Library
The aim of this work was to identify micro‐RNAs (miRNAs) involved in the pathological
pathways activated in skeletal muscle damage and regeneration by both dystrophin …
pathways activated in skeletal muscle damage and regeneration by both dystrophin …
Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1
Myotonic Dystrophy Type-1 (DM1) is caused by the expansion of a CTG repeat with a
peculiar pattern of multisystemic involvement affecting skeletal muscles, the heart, the eye …
peculiar pattern of multisystemic involvement affecting skeletal muscles, the heart, the eye …
[HTML][HTML] Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies
G Meola - Acta Myologica, 2013 - ncbi.nlm.nih.gov
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …
CRISPR/Cas9-mediated deletion of CTG expansions recovers normal phenotype in myogenic cells derived from myotonic dystrophy 1 patients
C Provenzano, M Cappella, R Valaperta… - … Therapy-Nucleic Acids, 2017 - cell.com
Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy,
characterized by progressive myopathy, myotonia, and multi-organ involvement. This …
characterized by progressive myopathy, myotonia, and multi-organ involvement. This …
[HTML][HTML] Myotonic dystrophy type 2: the 2020 update
G Meola - Acta Myologica, 2020 - ncbi.nlm.nih.gov
The myotonic dystrophies are the commonest cause of adult-onset muscular dystrophy.
Phenotypes of DM1 and DM2 are similar, but there are some important differences …
Phenotypes of DM1 and DM2 are similar, but there are some important differences …
Deregulated microRNAs in myotonic dystrophy type 2
Myotonic Dystrophy Type-2 (DM2) is an autosomal dominant disease caused by the
expansion of a CCTG tetraplet repeat. It is a multisystemic disorder, affecting skeletal …
expansion of a CCTG tetraplet repeat. It is a multisystemic disorder, affecting skeletal …
Myotonic dystrophy type 2: an update on clinical aspects, genetic and pathomolecular mechanism
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …
Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. To date …
autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. To date …