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Alterations in degree centrality and functional connectivity associated with cognitive Impairment in myotonic dystrophy type 1:A Preliminary functional MRI study.
Neuroscience
March 2025
Department of Neurology & Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:
Objectives: The study aimed to examine alterations in voxel-based degree centrality (DC) and functional connectivity (FC), and their relationship with cognitive impairments in patients with myotonic dystrophy type 1 (DM1).
Methods: Eighteen DM1 patients and eighteen healthy controls participated in the study and were assessed using a comprehensive neuropsychological battery. Voxel-wise DC and FC analyses were used to assess abnormalities in functional connections among aberrant hubs.
Quantitative magnetic resonance imaging parameters of lumbar paraspinal muscle impairment in myotonic dystrophy type 2 and their evolution with aging.
Front Neurol
February 2025
Department of Neurology, Centre for Neuromuscular Diseases (Associated National Centre in the ERN EURO-NMD), University Hospital Brno, Brno, Czechia.
Introduction: Muscle magnetic resonance imaging (MRI) is an emerging method in the diagnosis and monitoring of muscular dystrophies. This cross-sectional, comparative study aimed to evaluate quantitative MRI (qMRI) parameters of the lumbar paraspinal muscles (LPM) in myotonic dystrophy type 2 (DM2), to assess their relationship with functional examination, and to evaluate their evolution with aging.
Methods: The study enrolled 37 DM2 patients and 90 healthy volunteers (HV) who were matched based on physiological parameters to create 35 pairs.
Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1.
Nat Commun
March 2025
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Chronic kidney disease (CKD) and the genetic disorder myotonic dystrophy type 1 (DM1) each are associated with progressive muscle wasting, whole-body insulin resistance, and impaired systemic metabolism. However, CKD is undocumented in DM1 and the molecular pathogenesis driving DM1 is unknown to involve the kidney. Here we use urinary extracellular vesicles (EVs), RNA sequencing, droplet digital PCR, and predictive modeling to identify downregulation of metabolism transcripts Phosphoenolpyruvate carboxykinase-1, 4-Hydroxyphenylpyruvate dioxygenase, Dihydropyrimidinase, Glutathione S-transferase alpha-1, Aminoacylase-1, and Electron transfer flavoprotein B in DM1.
View Article and Find Full Text PDFFractures in Hereditary Neuromuscular Disorders: Frequency, Risk Factors, and Implications.
Eur J Neurol
March 2025
Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
Background: Hereditary neuromuscular disorders (NMD) are associated with compromised bone health and elevated fracture risk, though data are largely lacking.
Objective: This study aimed to assess the prevalence and risk factors of fractures in hereditary NMD.
Methods: We conducted a retrospective study in a cohort of adult patients with diverse hereditary NMD, using data from electronic medical records.
Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature.
J Neuromuscul Dis
March 2025
Department of Neurology, Radboud university medical center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Background: Epidemiological frequency measures serve as reference point for patients, clinicians, researchers, and policymakers. Previously, we published a comprehensive review of the literature with prevalence and incidence rates for thirty neuromuscular disorders frequently encountered in the neuromuscular clinic. No meta-analyses were available at the time.
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