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
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
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
Genotype and other determinants of respiratory function in myotonic dystrophy type 1
Sign Up to like & getrecommendations! Published in 2018 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2017.12.011
Abstract: New treatments are being developed for myotonic dystrophy type 1 (DM1). To evaluate their efficacy, knowledge about the natural history of respiratory dysfunction and its relationship with the genotype will be crucial. Also needed is… read more here.
Keywords: respiratory function; dystrophy type; myotonic dystrophy; respiratory ... See more keywords
Isokinetic assessment of trunk muscles in facioscapulohumeral muscular dystrophy type 1 patients
Sign Up to like & getrecommendations! Published in 2018 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2018.09.007
Abstract: Facioscapulohumeral muscular dystrophy type 1 is the third most common inherited myopathy. Its severity is proportionate to the loss of microsatellite D4Z4 repetitions, which are below 10. Patients suffer from weakness in facial muscles, shoulder… read more here.
Keywords: facioscapulohumeral muscular; muscular dystrophy; trunk; dystrophy type ... See more keywords
Characterization of cannabis use by patients with myotonic dystrophy type 1: A pilot study
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.01.003
Abstract: The treatment of myotonic dystrophy type 1 (DM1) focuses on reducing symptom burden. However, since medication often fails to produce satisfying symptom relief, some patients seek alternatives, such as cannabis, to help reduce some of… read more here.
Keywords: cannabis; cannabis use; dystrophy type; study ... See more keywords
Cerebral involvement and related aspects in myotonic dystrophy type 2
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.06.002
Abstract: Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder caused by CCTG repeats expansion in the first intron of the CNBP gene. In this review we focus on the brain involvement in DM2,… read more here.
Keywords: involvement; dystrophy type; myotonic dystrophy; brain ... See more keywords
A Druglike Small Molecule that Targets r(CCUG) Repeats in Myotonic Dystrophy Type 2 Facilitates Degradation by RNA Quality Control Pathways.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of medicinal chemistry"
DOI: 10.1021/acs.jmedchem.1c00414
Abstract: Myotonic dystrophy type 2 (DM2) is one of >40 microsatellite disorders caused by RNA repeat expansions. The DM2 repeat expansion, r(CCUG)exp (where "exp" denotes expanded repeating nucleotides), is harbored in intron 1 of the CCHC-type… read more here.
Keywords: dystrophy type; small molecule; druglike small; ccug exp ... See more keywords