The myotonic dystrophies: molecular, clinical, and therapeutic challenges

B Udd, R Krahe - The Lancet Neurology, 2012 - thelancet.com
Myotonic dystrophy is the most common type of muscular dystrophy in adults and is
characterised by progressive myopathy, myotonia, and multiorgan involvement. Two …

[HTML][HTML] Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms

G Meola, R Cardani - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2015 - Elsevier
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …

Muscleblind-like 2-mediated alternative splicing in the develo** brain and dysregulation in myotonic dystrophy

K Charizanis, KY Lee, R Batra, M Goodwin, C Zhang… - Neuron, 2012 - cell.com
The RNA-mediated disease model for myotonic dystrophy (DM) proposes that microsatellite
C (C) TG expansions express toxic RNAs that disrupt splicing regulation by altering MBNL1 …

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

M Minnerop, B Weber, JC Schoene-Bake, S Roeske… - Brain, 2011 - academic.oup.com
Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential
brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy …

Myotonic dystrophy: diagnosis, management and new therapies

C Turner, D Hilton-Jones - Current opinion in neurology, 2014 - journals.lww.com
Molecular therapeutics for myotonic dystrophy will probably bridge the translational gap
between bench and bedside in the near future. There will still be a requirement for clinical …

Brain imaging in myotonic dystrophy type 1: a systematic review

K Okkersen, DG Monckton, N Le, AM Tuladhar… - Neurology, 2017 - neurology.org
Objective: To systematically review brain imaging studies in myotonic dystrophy type 1
(DM1). Methods: We searched Embase (index period 1974–2016) and MEDLINE (index …

Muscle wasting in myotonic dystrophies: a model of premature aging

AJ Mateos-Aierdi, M Goicoechea, A Aiastui… - Frontiers in aging …, 2015 - frontiersin.org
Myotonic dystrophy type 1 (DM1 or Steinert's disease) and type 2 (DM2) are multisystem
disorders of genetic origin. Progressive muscular weakness, atrophy and myotonia are the …

Myotonic dystrophy type 2: the 2020 update

G Meola - Acta Myologica, 2020 - pmc.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 …

Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy

ML Caillet-Boudin, FJ Fernandez-Gomez… - Frontiers in molecular …, 2014 - frontiersin.org
Myotonic dystrophy (DM) of type 1 and 2 (DM1 and DM2) are inherited autosomal dominant
diseases caused by dynamic and unstable expanded microsatellite sequences (CTG and …

Cortical and subcortical grey and white matter atrophy in myotonic dystrophies type 1 and 2 is associated with cognitive impairment, depression and daytime …

C Schneider-Gold, B Bellenberg, C Prehn, C Krogias… - PloS one, 2015 - journals.plos.org
Objectives Central nervous system involvement is one important clinical aspect of myotonic
dystrophy type 1 and 2 (DM1 and DM2). We assessed CNS involvement DM1 and DM2 by …