Results 161 to 170 of about 221,231 (306)

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, Mohammad Nazim, Ruchen Zhang, Paniz Farshadyeganeh, Mikako Ito, Bisei Ohkawara   +5 more
wiley   +1 more source

Editorial: Neuromodulatory Function in Auditory Processing

Frontiers in Neural Circuits, 2022
R. Michael Burger, Conny Kopp-Scheinpflug   +1 more
doaj   +1 more source

Observation of Acetylcholine Secretion on Living Glioblastoma Cells. [PDF]

ACS Meas Sci Au
Milton CB, Akter M, Kawakita OM, Huang SH, Shen M.   +4 more
europepmc   +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, Martijn R. Tannemaat, Annabel M. Ruiter, Sarah Hoffmann   +3 more
wiley   +1 more source

Vagus nerve control of HMGB1 accessibility: a bioelectronic strategy for inflammation and pain. [PDF]

Bioelectron Med
Yang H, Brines M, Andersson U.
europepmc   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

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, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

Pharmaceutical stability of compounded acetylcholine chloride intraocular solution for intracoronary provocative vasospasm testing. [PDF]

Front Cardiovasc Med
McCarthy KJ, Greenhalgh R, MacDonald E, Cedro L, Pinto D, Stephan M, Osborn EA.   +6 more
europepmc   +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

The Therapeutic Potential of <i>Phaseolus vulgaris</i> in Alzheimer's Disease: Insights From Experimental Rodent Model. [PDF]

Scientifica (Cairo)
Munawwar R, Sarfaraz S, Ikram R, Anser H.   +3 more
europepmc   +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, Dana L. E. Vergoossen, Maartje G. Huijbers   +2 more
wiley   +1 more source