Results 51 to 60 of about 12,338 (187)
Technologies for engineering repetitive DNA
Quantitative Biology, Volume 14, Issue 3, September 2026.Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley +1 more source
Pattern Dystrophy of the Macula in a Case of Steinert Disease
Case Reports in Ophthalmology, 2013 Introduction: Myotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes.
Filipe Esteves +4 more
doaj +1 more source
Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1
BMC Neurology, 2022 Background Although functional impairment in patients with myotonic dystrophy is an important determinant of the quality of life (QoL), patients’ subjective evaluation of their symptoms may also affect their QoL.
Haruo Fujino +6 more
doaj +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS
Frontiers in Cellular Neuroscience, 2017 Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both
Genevieve Gourdon +2 more
doaj +1 more source
European Journal of Neurology, Volume 33, Issue 8, August 2026.In this proof‐of‐concept study, 3D radiomic texture analysis of quantitative muscle MRI (proton density fat fraction (PDFF, %) maps) distinguished the myogenic disease DM1 from the neurogenic disease CMT1A. Compared with DM1, CMT1A showed higher entropy, contrast, and lower homogeneity, reflecting a reticular vs.
Louise Iterbeke +7 more
wiley +1 more source
Disease Models & Mechanisms, 2021 First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers.
doaj +1 more source
Scandinavian Journal of Medicine &Science in Sports, Volume 36, Issue 8, August 2026.ABSTRACT It remains unclear why exercising damaged muscles is perceived as disproportionately more effortful. Given the known role of inorganic phosphate (Pi) in fatigue and afferent sensory signaling, we tested whether muscle damage disrupts phosphate metabolism and whether this is associated with heightened ratings of perceived exertion (RPE ...
Jamie Stewart McPhee +5 more
wiley +1 more source
Cardiology Research and Practice, 2010 Myotonic dystrophy is a genetic muscular disease that is frequently associated with cardiac arrhythmias. Bradyarrhythmias, such as sinus bradycardia and atrioventricular block, are more common than tachyarrhythmias.
S. Asbach +4 more
doaj +1 more source