Results 31 to 40 of about 26,826 (219)
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]
, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello +58 more
core +7 more sources
Rinsho Shinkeigaku, 2013 No effective treatment was available for myotonic dystrophy, even in animal model. We have established a new antisense oligonucleotide delivery to skeletal muscle of mice with bubble liposomes, and led to increased expression of chloride channel (CLCN1) protein and the amelioration of myotonia.
Shoichi, Ishiura +2 more
openaire +3 more sources
Anesthesia for a Patient with Myotonic Dystrophy
Haseki Tıp Bülteni, 2016 Myotonic dystrophy is the most common myotonic syndrome causing abnormalities of the skeletal and smooth muscles as well as problems related to the cardiac, gastrointestinal and endocrine systems. In affected people, reduced functional residual capacity,
Dilek Kalaycı +6 more
doaj +1 more source
Changes in pain-related beliefs, coping, and catastrophizing predict changes in pain intensity, pain interference, and psychological functioning in individuals with myotonic muscular dystrophy and facioscapulohumeral dystrophy [PDF]
, 2011 The primary aim of this study was to test hypothesized associations between changes in psychological variables (i.e., pain beliefs, catastrophizing and coping strategies) and changes in pain intensity and related adjustment (i.e., pain interference and ...
Jensen, Mark P. +3 more
core +1 more source
Journal of Medical Case Reports, 2019 Background Myotonic dystrophy type 1 is an autosomal dominant disorder characterized by muscle weakness, myotonia, cataracts, and cardiac conduction defects; it is associated with expansions of cytosine-thymine-guanine repeats in the myotonic dystrophy ...
Sarah C. Sasson +6 more
doaj +1 more source
Limited orthodontic treatment in myotonic dystrophy II [PDF]
Romanian Journal of Neurology, 2017 Rationale. Myotonic dystrophy (MD) is a multisystemic autosomal dominant disease characterized by myotonia and progressive muscular weakness and atrophy. Objective. The purpose of this study was to describe the dental, skeletal and muscular features in
Aurelia Magdalena Enache +4 more
doaj +1 more source
Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]
, 2016 Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly +7 more
core +2 more sources
Antenatal Indomethacin Treatment for Congenital Myotonic Dystrophy
Case Reports in Obstetrics and Gynecology, 2019 Myotonic dystrophy is an autosomal-dominant disorder. Its congenital type is the most severe form, with respiratory failure that can be a life-threatening event after birth. There are no antenatal treatments that can improve neonatal outcomes of myotonic
Kyohei Yamaguchi +5 more
doaj +1 more source
American Journal of Physical Medicine & Rehabilitation, 2006 Myotonic dystrophy is the most common form of muscular dystrophy in adults, with a prevalence of 1 in 8,000. It is a slowly progressive, multi-system disorder that affects skeletal muscles, the heart, gastrointestinal smooth muscle, uterine smooth muscle, the eyes, and the endocrine and central nervous systems.
Andrew J, Yu +3 more
openaire +3 more sources
High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2 [PDF]
, 2018 Myotonic dystrophy type 1 (DM1) is a multi-systemic disorder caused by abnormally expanded stretches of CTG DNA triplets in the DMPK gene, leading to mutated-transcript RNA-toxicity.
Cappella, Marisa +11 more
core +2 more sources