Results 101 to 110 of about 154,788 (267)
Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1
Muscle &Nerve, EarlyView.ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno +5 more
wiley +1 more source
Fatigue in Myasthenia Gravis: Recent Advances and Emerging Concepts
Muscle &Nerve, EarlyView.ABSTRACT Fatigue is a common, often disabling symptom in myasthenia gravis (MG), distinct from muscle fatigability, and strongly associated with reduced quality of life. This narrative review examines current evidence on fatigue in MG, its patient impact, and future research directions. Earlier studies, mostly small and heterogeneous, reported a highly
Yvonne J. M. Campman +3 more
wiley +1 more source
Profile of acotiamide in the treatment of functional dyspepsia
Clinical and Experimental Gastroenterology, 2016 Masahiro Ueda,1 Eisuke Iwasaki,1 Hidekazu Suzuki2 1Department of Internal Medicine, Division of Gastroenterology and Hepatology, 2Medical Education Center, Keio University School of Medicine, Tokyo, Japan Abstract: Efficacy of acotiamide for improving ...
Ueda M, Iwasaki E, Suzuki H
doaj
Muscle &Nerve, EarlyView.ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles +5 more
wiley +1 more source
Presynaptic Congenital Myasthenic Syndromes
Muscle &Nerve, EarlyView.ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley +1 more source
Muscle‐Specific Kinase Signaling and Its Therapeutic Potential
Muscle &Nerve, EarlyView.ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen +2 more
wiley +1 more source
Muscle &Nerve, EarlyView.ABSTRACT Seronegative myasthenia gravis (SNMG) is characterized by the absence of detectable autoantibodies against known MG targets, despite clinical and electrophysiological evidence of a postsynaptic neuromuscular junction disorder. The aim of this systematic review was to better define clinical features, diagnostic clues and treatment outcome of ...
Massimiliano Ugo Verza +6 more
wiley +1 more source