Myotonic dystrophy kinase‐related CDC42‐binding kinase α, a new transferrin receptor type 2‐binding partner, is a regulator of erythropoiesis
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Hematology"
DOI: 10.1002/ajh.26104
Abstract: Efficient erythropoiesis relies on the expression of the transferrin receptor type 2 (TFR2). In erythroid precursors, TFR2 facilitates the export of the erythropoietin receptor (EPOR) to cell surface, which ensures the survival and proliferation of… read more here.
Keywords: kinase; transferrin receptor; receptor type; 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
Congenital myotonic dystrophy: An overlooked diagnosis not amenable to detection by sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6105
Abstract: To increase the clinical awareness of the need for genetic evaluation for congenital myotonic dystrophy (CDM1) in cases of fetal akinesia sequence and idiopathic polyhydramnios. read more here.
Keywords: myotonic dystrophy; dystrophy overlooked; congenital myotonic; overlooked diagnosis ... 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
MyomiRNAs and myostatin as physical rehabilitation biomarkers for myotonic dystrophy
Sign Up to like & getrecommendations! Published in 2020 at "Neurological Sciences"
DOI: 10.1007/s10072-020-04409-2
Abstract: MiR-1 and myostatin are markers for muscle growth and regeneration. Myostatin has a key role in the regulation of muscle mass. Myotonic dystrophy type 1(DM1) patients have a disease-specific serum miRNA profile characterized by upregulation… read more here.
Keywords: physical rehabilitation; mir; myotonic dystrophy; rehabilitation ... See more keywords
Comparative Sleep Disturbances in Myotonic Dystrophy Types 1 and 2
Sign Up to like & getrecommendations! Published in 2018 at "Current Neurology and Neuroscience Reports"
DOI: 10.1007/s11910-018-0903-x
Abstract: Purpose of ReviewTo update current knowledge regarding sleep disturbances and myotonic dystrophies so as to better understand if sleep symptoms may help in the early recognition of the two genetic subtypes: myotonic dystrophy type 1… read more here.
Keywords: comparative sleep; sleep disturbances; myotonic dystrophy; sleep ... See more keywords
Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest
Sign Up to like & getrecommendations! Published in 2018 at "Netherlands Heart Journal"
DOI: 10.1007/s12471-018-1207-0
Abstract: A 52-year-old female was admitted after an out-ofhospital cardiac arrest due to ventricular fibrillation. Cardiological evaluation revealed non-ischaemic dilated cardiomyopathy (DCM). Cardiac MRI showed a severely dilated left ventricle with an ejection fraction of 17%… read more here.
Keywords: dilated cardiomyopathy; cardiac arrest; myotonic dystrophy; severely dilated ... See more keywords
Aberrant Myokine Signaling in Congenital Myotonic Dystrophy.
Sign Up to like & getrecommendations! Published in 2017 at "Cell reports"
DOI: 10.1016/j.celrep.2017.10.018
Abstract: Myotonic dystrophy types 1 (DM1) and 2 (DM2) are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively. Although both disorders are clinically similar, congenital myotonic dystrophy… read more here.
Keywords: myokine signaling; dystrophy; cdm; myotonic dystrophy ... 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