Effects of interrupting residues on DNA dumbbell structures formed by CCTG tetranucleotide repeats associated with myotonic dystrophy type 2
Sign Up to like & getrecommendations! Published in 2024 at "FEBS Letters"
DOI: 10.1002/1873-3468.14952
Abstract: Myotonic dystrophy type 2 (DM2) is a neurogenerative disease caused by caprylic/capric triglyceride (CCTG) tetranucleotide repeat expansions in intron 1 of the cellular nucleic acid‐binding protein (CNBP) gene. Non‐B DNA structures formed by CCTG repeats… read more here.
Keywords: formed cctg; cctg repeats; cctg tetranucleotide; dystrophy type ... See more keywords
New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target
Sign Up to like & getrecommendations! Published in 2024 at "Bioessays"
DOI: 10.1002/bies.202400216
Abstract: Myotonic dystrophy type 1 (DM1) is considered a progeroid disease (i.e., causing premature aging). This hypervariable disease affects multiple systems, such as the musculoskeletal, central nervous, gastrointestinal, and others. Despite advances in understanding the underlying… read more here.
Keywords: senescence; dystrophy type; cellular senescence; myotonic dystrophy ... See more keywords
Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Cachexia, Sarcopenia and Muscle"
DOI: 10.1002/jcsm.70112
Abstract: Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder characterized by CTG repeat expansion in the 3′ untranslated region of the dystrophia myotonica protein kinase coding gene. The presence of expanded CTG repeats in… read more here.
Keywords: splicing sorbs1; dystrophy type; alternative splicing; myotonic dystrophy ... See more keywords
Cognitive function and its relationship with brain structure in myotonic dystrophy type 1
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neuroscience Research"
DOI: 10.1002/jnr.24595
Abstract: Studies have shown relationships between white matter abnormalities and cognitive dysfunction in myotonic dystrophy type 1 (DM1), but comprehensive analysis of potential structure–function relationships are lacking. Fifty adult‐onset DM1 individuals (33 female) and 68 unaffected… read more here.
Keywords: psi; volume; dystrophy type; group ... See more keywords
Longitudinal study in patients with myotonic dystrophy type 1: correlation of brain MRI abnormalities with cognitive performances
Sign Up to like & getrecommendations! Published in 2020 at "Neuroradiology"
DOI: 10.1007/s00234-020-02611-9
Abstract: Myotonic dystrophy type 1 (DM1) is a muscular dystrophy with neurological, cognitive, and radiological abnormalities. The developmental or degenerative nature of these abnormalities, and their progression over time, remains unclear. The aim of this study… read more here.
Keywords: matter; dystrophy type; study; myotonic dystrophy ... See more keywords
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2
Sign Up to like & getrecommendations! Published in 2024 at "Acta Neuropathologica"
DOI: 10.1007/s00401-023-02673-y
Abstract: Myotonic dystrophy type 2 (DM2) is an autosomal-dominant multisystemic disease with a core manifestation of proximal muscle weakness, muscle atrophy, myotonia, and myalgia. The disease-causing CCTG tetranucleotide expansion within the CNBP gene on chromosome 3… read more here.
Keywords: mitochondrial dysfunction; dystrophy type; myotonic dystrophy;
Disease burden of myotonic dystrophy type 1
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurology"
DOI: 10.1007/s00415-019-09228-w
Abstract: ObjectiveThe objective of this cross-sectional, observational study was to investigate the disease burden of myotonic dystrophy type 1 (DM1), a disabling muscle disorder.MethodsAdults with DM1 were recruited as part of the PhenoDM1 study from Newcastle… read more here.
Keywords: dystrophy type; disease; disease burden; myotonic dystrophy ... See more keywords
Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neurology"
DOI: 10.1007/s00415-021-10917-8
Abstract: Myotonic dystrophy type 1 (DM1), an autosomal dominant inherited disease, is the most common form of adult-onset muscular dystrophy with a prevalence of 1 in 8000 worldwide and no disease-modifying treatment is currently available [1].… read more here.
Keywords: clinical phenotype; muscle; myotonic dystrophy; dystrophy type ... See more keywords
Assessing the Safety and Efficacy of Lamotrigine as Anti-myotonic Agent in Myotonic Dystrophy Type 1 (DM1): A Longitudinal, Open-Label, Pilot Study
Sign Up to like & getrecommendations! Published in 2025 at "Neurology and Therapy"
DOI: 10.1007/s40120-025-00804-z
Abstract: Myotonia, defined as impaired relaxation of skeletal muscles after voluntary contraction or electrical stimulation, is a core feature of myotonic dystrophy type 1 (DM1) and can be highly disabling. The most used anti-myotonic drug, mexiletine,… read more here.
Keywords: anti myotonic; efficacy; dystrophy type; dm1 ... See more keywords
The cognitive profile of myotonic dystrophy type 1: A systematic review and meta-analysis
Sign Up to like & getrecommendations! Published in 2017 at "Cortex"
DOI: 10.1016/j.cortex.2017.08.008
Abstract: OBJECTIVE To examine the cognitive profile of patients with myotonic dystrophy type 1 (DM1) on the basis of a systematic review and meta-analysis of the literature. METHODS Embase, Medline and PsycInfo were searched for studies… read more here.
Keywords: analysis; dystrophy type; systematic review; cognitive profile ... See more keywords
Characteristics of transcranial parenchymal sonography and correlation with psychiatric symptomatology in patients with myotonic dystrophy type 1 and 2
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2019.10.1539
Abstract: Introduction Myotonic dystrophy type 1 and 2 (dystrophia myotonica, DM) is an autosomal dominant genetically determined progressive muscular dystrophy associated with multiple organs involvement. Neuroimaging techniques allow visualization and quantification of pathoanatomic changes, while the… read more here.
Keywords: symptomatology; dystrophy type; dystrophy; myotonic dystrophy ... See more keywords