Search
Search Results
-
-
Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis
BackgroundCognitive impairments in patients with myotonic dystrophy type 1 (DM1) have often been described, however, there are only few studies...
-
p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome
IntroductionMutations of the skeletal muscle sodium channel gene SCN4A are associated with several neuromuscular disorders including...
-
MyomiRNAs and myostatin as physical rehabilitation biomarkers for myotonic dystrophy
MiR-1 and myostatin are markers for muscle growth and regeneration. Myostatin has a key role in the regulation of muscle mass. Myotonic dystrophy...
-
-
Change over time in ability to perform activities of daily living in myotonic dystrophy type 1
ObjectiveThe objective of this longitudinal, observational study was to investigate change over time in ability to perform activities of daily living...
-
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
Neuromuscular disorders (NMDs) include a wide range of diseases affecting the peripheral nervous system. The genetic diagnoses are increasingly...
-
Swallow-related quality of life and oropharyngeal dysphagia in myotonic dystrophy
PurposeThis study describes swallow-related quality of life (SWAL-QOL) in patients with myotonic dystrophy type 1 (DM1) and investigates its...
-
Physical activity in myotonic dystrophy type 1
BackgroundPhysical inactivity is associated with lifestyle diseases and exercise of moderate intensity seems beneficial in DM1, but knowledge about...
-
Myocardial native T1 map** and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations
BackgroundFemale carriers of dystrophin gene mutations (DMD-FC) were previously considered non-manifesting, but in recent decades, cardiomyopathy...
-
Myotonic dystrophy type 1 accompanied with normal pressure hydrocephalus: a case report and literature review
BackgroundMyotonic dystrophy type 1 (DM1) is the most common disease that can cause muscle weakness and atrophy among adults. Normal pressure...
-
Whole-muscle fat analysis identifies distal muscle end as disease initiation site in facioscapulohumeral muscular dystrophy
BackgroundFacioscapulohumeral dystrophy (FSHD) is a major muscular dystrophy characterized by asymmetric fatty replacement of muscles. We aimed to...
-
Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy
BackgroundFuchs endothelial corneal dystrophy is a hereditary disease and the most frequent cause of corneal transplantation in the worldwide. Its...
-
Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literature
BackgroundMyotonic dystrophy type 1 is an autosomal dominant disorder characterized by muscle weakness, myotonia, cataracts, and cardiac conduction...
-
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
BackgroundThe Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result...
-
A 20-year bibliometric analysis of Fuchs endothelial corneal dystrophy: from 2001 to 2020
PurposeThe aim of this study was to identify trends and focuses in the field of Fuchs endothelial corneal dystrophy (FECD) research.
Methods ...
-
Effectiveness and safety of mexiletine versus placebo in patients with myotonia: a systematic review and meta-analysis
BackgroundThe rare nature of dystrophic and non-dystrophic myotonia has limited the available evidence on the efficacy of mexiletine as a potential...
-
Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case–control study
PurposeMyotonic dystrophy type 1 (DM1) is a genetic disorder caused by CTG expansion in the DMPK gene. The aim was to investigate the endocrine and...
-
Predicting daytime sleepiness and fatigue: a 9-year prospective study in myotonic dystrophy type 1
ObjectiveDaytime sleepiness and fatigue are prominent symptoms of myotonic dystrophy type I (DM1) that exact a heavy toll on patients’ quality of...
-
Investigation of surface electromyography amplitude values during stair climbing task in children with Duchenne muscular dystrophy
ObjectiveThe aims of this study were (a) to examine the surface electromyography (sEMG) amplitude values of the lower limb muscles during stair...
