Results 51 to 60 of about 17,131 (226)
PLoS ONEMyotonic dystrophy is associated with dysphagia, which can lead to severe complications such as aspiration pneumonia and choking. However, few histopathological studies on dysphagia in myotonic dystrophy have been conducted.
Rie Asayama +5 more
doaj +1 more source
Unbalance in Myotonic Dystrophy-1 may follow cervical ataxia and respond to exercise [PDF]
, 2007 Patients with myotonic dystrophy-type 1 (DM-1) often fall, due to “intrinsic” mechanisms (eg legs “giving out”) for unknown reasons (Wiles CM.JNNP 2006;77:393-396). A case is presented, in which neck position sense was impaired.
C. Chessa, M. Atanni, L. Tesio
core
Myotonic dystrophy type 1: case report of a colombian patient
, 2016 Introducción: La distrofia miotónica es una enfermedad poco frecuente de origen genético. Se produce por aumento de repeticiones de la tripleta CTG en el gen DMPK (locus 19q13.32), o por aumento de repeticiones de CCTG en el gen ZNF9 (locus3q21.3).
Isaza, Carolina +3 more
core +2 more sources
Journal of Clinical Medicine, 2023 Myotonic dystrophy (DM) is the most common muscular dystrophy in adults. Dominantly inherited CTG and CCTG repeat expansions in DMPK and CNBP genes cause DM type 1 (DM1) and 2 (DM2), respectively. These genetic defects lead to the abnormal splicing of different mRNA transcripts, which are thought to be responsible for the multiorgan involvement of ...
Eleonora S. D’Ambrosio +1 more
openaire +2 more sources
Narcolepsy and rapid eye movement sleep
Journal of Sleep Research, Volume 34, Issue 2, April 2025.Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini +4 more
wiley +1 more source
Diagnosis and Management of Pediatric Myotonic Dystrophy
, 2017 Myotonic dystrophy type 1 is an autosomal dominant neuromuscular disorder resulting in unstable CTG repeats within the myotonic dystrophy protein kinase (DMPK) gene on chromosome 19q3.
Michael Hunter, Nicholas Johnson
core +1 more source
A pedigree with myotonic dystrophy: electrophysiological and genetic characteristics
Chinese Journal of Contemporary Neurology and NeurosurgeryObjective To summarize the clinical, electrophysiological and genetic characteristics of a pedigree with myotonic dystrophy (DM). Methods and Results The 25-year-old male proband exhibited an occult onset, characterized by a distinctive "hatchet face ...
HUANG Jing +5 more
doaj +1 more source
Senolytics and exercise: Dual modalities for rejuvenating muscle
The Journal of Physiology, EarlyView.Abstract figure legend The role of senolytics on the heart and skeletal muscle. Senescent cell burden increases with ageing, disuse and disease. The senolytics dasatinib+quercetin (D+Q), navitoclax and fisetin, as well as exercise, eliminate senescent cells, reducing senescent cell burden and their senescence‐associated secretory phenotype (SASP ...
Zeynep Elif Yesilyurt‐Dirican +4 more
wiley +1 more source
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
El sistema hipocretina / orexina en la fisiopatología de las hipersomnias de origen central [PDF]
, 2007 [spa] INTRODUCCIÓN. El sistema hipocretina/orexina es un sistema neurotransmisor hipotalámico con funciones promotoras de la vigilia. La narcolepsia, enfermedad caracterizada por una excesiva somnolencia diurna y manifestaciones anormales del sueño REM ...
Martínez Rodríguez, José Enrique
core