Results 71 to 80 of about 12,116 (229)
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Inclusion body myositis (IBM) is an inflammatory myopathy with an insidious onset, often making diagnosis challenging. Although neuroimaging has recently been included in diagnostic criteria, the role of muscle ultrasound—despite being a rapid and cost‐effective tool—in IBM has been less extensively characterized.
Giuseppe Di Pietro +11 more
wiley +1 more source
Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice. [PDF]
PLoS ONE, 2012 Mutations in the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase, result in distal myopathy with rimmed vacuoles (DMRV)/hereditary inclusion body myopathy (HIBM) in humans.
Mitutoshi Ito +7 more
doaj +1 more source
Sporadic inclusion body myositis: an unsolved mystery [PDF]
, 2009 Sporadic inclusion body myositis (sIBM) is considered to be the most common acquired muscle disease associated with aging. It is a disabling disorder still without effective treatment.
Hanna, M +3 more
core
Nationwide patient registry for GNE myopathy in Japan [PDF]
, 2014 BACKGROUND: GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene.
En Kimura +7 more
core +1 more source
With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies
Neurology and Clinical Neuroscience, EarlyView.ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley +1 more source
BMC Neurology, 2018 Background Filamin C-related myofibrillar myopathies (MFM) are progressive skeletal myopathies with an autosomal dominant inheritance pattern. The conditions are caused by mutations of the filamin C gene (FLNC) located in the chromosome 7q32-q35 region ...
Jing Miao +5 more
doaj +1 more source
Genetic aberrations in macroautophagy genes leading to diseases [PDF]
, 2018 The catabolic process of macroautophagy, through the rapid degradation of unwanted cellular components, is involved in a multitude of cellular and organismal functions that are essential to maintain homeostasis.
Klionsky, Daniel J +2 more
core +1 more source
Review of nutrition management of pediatric intestinal pseudo‐obstruction
Nutrition in Clinical Practice, EarlyView.Abstract Chronic intestinal pseudo‐obstruction (CIPO) is a rare, heterogeneous, and debilitating disorder characterized by profound intestinal dysmotility and severe nutrition challenges. Its presentation resembles that of mechanical bowel obstruction, but CIPO occurs in the absence of luminal obstruction.
Senthilkumar Sankararaman +5 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Rhabdomyolysis: a genetic perspective [PDF]
, 2015 Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner +8 more
core +4 more sources