Results 91 to 100 of about 2,985,698 (230)
Social cognition in myotonic dystrophy type 1: Specific or secondary impairment? [PDF]
, 2018 Aims The cognitive profile of Myotonic Dystrophy type 1 (DM1) has been described in recent decades. Moreover, DM1 patients show lowered social engagement and difficulties in social-cognitive functions.
Aliri Lazcano, Jone +5 more
core +2 more sources
Journal of Sleep Research, EarlyView.ABSTRACT Multiple sclerosis is frequently associated with sleep disorders. This study aimed to evaluate subjective and objective sleep parameters in de novo relapsing–remitting multiple sclerosis patients compared to healthy controls and to explore correlations with cerebrospinal fluid cytokines.
A. Romigi +10 more
wiley +1 more source
Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. [PDF]
, 2015 Cardiac dysfunction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG repeats bind and disable the muscleblind-like family of splice regulators.
Choi, Jongkyu +8 more
core
Muscle &Nerve, Volume 73, Issue 3, Page 485-489, March 2026.ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Anson W. Wilks, Nizar Chahin
wiley +1 more source
Обозрение психиатрии и медицинской психологии имени В.М. БехтереваPersistent orofacial pain belongs to a group of pain conditions of non-dental etiology affecting the face and mouth, significantly impacting quality of life and having a biopsychosocial nature.
Yulia V. Kotsiubinskaya
doaj +1 more source
Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. [PDF]
, 1996 Missense mutations in the skeletal muscle Na+ channel alpha subunit occur in several heritable forms of myotonia and periodic paralysis. Distinct phenotypes arise from mutations at two sites within the III-IV cytoplasmic loop: myotonia without weakness ...
Brown, RH, Cannon, SC, Hayward, LJ
core
Treatment of sleep central apnea with non-invasive mechanical ventilation with 2 levels of positive pressure (bilevel) in a patient with myotonic dystrophy type 1 [PDF]
, 1906 We are reporting a case of a 29 year-old female with diagnosis of myotonic dystrophy type 1 (Steinert’s disease) with excessive daytime sleepiness, muscle fatigue, snoring, frequent arousals, non-restorative sleep, and witnessed apneas.
Akamine, Ricardo Tera +7 more
core +2 more sources
HNRNPA1-induced spliceopathy in a transgenic mouse model of myotonic dystrophy
Proceedings of the National Academy of Sciences of the United States of America, 2020 Significance Myotonic dystrophy type 1 (DM1) is a model for RNA-mediated disease in microsatellite expansion disorders. DM1 is caused by CTG expansions (CTGexp) and expression of CUGexp RNAs that sequester muscleblind-like (MBNL) proteins, while also ...
Moyi Li +12 more
semanticscholar +1 more source
Implantable Drug Delivery Systems for Skeletal Muscles and Eyes
Advanced NanoBiomed Research, Volume 6, Issue 2, February 2026.This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov +8 more
wiley +1 more source
Expandable DNA Repeat and Human Hereditary Disorders [PDF]
Journal of Kerman University of Medical Sciences, 2016 Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia.
Shahin Ramazi +3 more
doaj