[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 …

The myotonic dystrophies: diagnosis and management

C Turner, D Hilton-Jones - Journal of Neurology, Neurosurgery & …, 2010 - jnnp.bmj.com
There are currently two clinically and molecularly defined forms of myotonic dystrophy:(1)
myotonic dystrophy type 1 (DM1), also known as 'Steinert's disease'; and (2) myotonic …

[HTML][HTML] Myotonic dystrophy type 1

TD Bird - 2021 - europepmc.org
Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth
muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical …

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 …

Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy

GS Wang, DL Kearney, M De Biasi… - The Journal of …, 2007 - Am Soc Clin Investig
Myotonic dystrophy type 1 (DM1) is caused by a CTG trinucleotide expansion in the 3′
untranslated region (3′ UTR) of DM protein kinase (DMPK). The key feature of DM1 …

Myotonic dystrophies: state of the art of new therapeutic developments for the CNS

G Gourdon, G Meola - Frontiers in cellular neuroscience, 2017 - frontiersin.org
Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart
dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting …

High prevalence of myocarditis mimicking arrhythmogenic right ventricular cardiomyopathy: differential diagnosis by electroanatomic mapping-guided endomyocardial …

M Pieroni, A Dello Russo, F Marzo, G Pelargonio… - Journal of the American …, 2009 - jacc.org
Objectives: We evaluated the diagnostic contribution and the therapeutic and prognostic
implications of 3-dimensional electroanatomic mapping (EAM)-guided endomyocardial …

[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 …

Sick sinus syndrome

R De Ponti, J Marazzato, G Bagliani… - Cardiac …, 2018 - cardiacep.theclinics.com
The sinus node (SN) is located in the superior right atrium and is the natural pacemaker of
the human heart. 1 The electrical activity of the SN is under a precise regulation of the …

Human umbilical cord stem cells ameliorate experimental autoimmune encephalomyelitis by regulating immunoinflammation and remyelination

R Liu, Z Zhang, Z Lu, C Borlongan, J Pan… - Stem cells and …, 2013 - liebertpub.com
Multiple sclerosis (MS) is an irreversible and demyelinating disease of the central nervous
system, in part influenced by chronic inflammation. There is no proven effective therapy to …