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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 …
characterised by progressive myopathy, myotonia, and multiorgan involvement. Two …
[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 …
Muscleblind-like 2-mediated alternative splicing in the develo** brain and dysregulation in myotonic dystrophy
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 …
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 …
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 …
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
Objective: To systematically review brain imaging studies in myotonic dystrophy type 1
(DM1). Methods: We searched Embase (index period 1974–2016) and MEDLINE (index …
(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 …
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 …
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 …
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 …
dystrophy type 1 and 2 (DM1 and DM2). We assessed CNS involvement DM1 and DM2 by …