[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 …
MBNL proteins and their target RNAs, interaction and splicing regulation
P Konieczny, E Stepniak-Konieczna… - Nucleic acids …, 2014 - academic.oup.com
Muscleblind-like (MBNL) proteins are key regulators of precursor and mature mRNA
metabolism in mammals. Based on published and novel data, we explore models of tissue …
metabolism in mammals. Based on published and novel data, we explore models of tissue …
Aerobic exercise elicits clinical adaptations in myotonic dystrophy type 1 patients independently of pathophysiological changes
AI Mikhail, PL Nagy, K Manta, N Rouse… - The Journal of …, 2022 - Am Soc Clin Investig
Background Myotonic dystrophy type 1 (DM1) is a complex life-limiting neuromuscular
disorder characterized by severe skeletal muscle atrophy, weakness, and cardiorespiratory …
disorder characterized by severe skeletal muscle atrophy, weakness, and cardiorespiratory …
[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 …
Competition between RNA-binding proteins CELF1 and HuR modulates MYC translation and intestinal epithelium renewal
L Liu, M Ouyang, JN Rao, T Zou, L Xiao… - Molecular biology of …, 2015 - Am Soc Cell Biol
The mammalian intestinal epithelium is one of the most rapidly self-renewing tissues in the
body, and its integrity is preserved through strict regulation. The RNA-binding protein (RBP) …
body, and its integrity is preserved through strict regulation. The RNA-binding protein (RBP) …
[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 …
[HTML][HTML] Myotonic dystrophies: targeting therapies for multisystem disease
S LoRusso, B Weiner, WD Arnold - Neurotherapeutics, 2018 - Elsevier
Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with
muscle weakness, atrophy, and myotonia but also prominent multisystem involvement …
muscle weakness, atrophy, and myotonia but also prominent multisystem involvement …
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
Myotonic dystrophy type 1 and type 2 (DM1, DM2) are caused by expansions of CTG and
CCTG repeats, respectively. RNAs containing expanded CUG or CCUG repeats interfere …
CCTG repeats, respectively. RNAs containing expanded CUG or CCUG repeats interfere …
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 …
Relation of genomic variants for Alzheimer disease dementia to common neuropathologies
Objective: To investigate the associations of previously reported Alzheimer disease (AD)
dementia genomic variants with common neuropathologies. Methods: This is a postmortem …
dementia genomic variants with common neuropathologies. Methods: This is a postmortem …