Results 171 to 180 of about 45,078 (254)

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

open access: yesMuscle &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

open access: yesMuscle &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

Neuromuscular Block and Blocking Agents in 2018

open access: yesTurkish Journal of Anesthesia and Reanimation, 2018
openaire   +2 more sources

The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley   +1 more source

Clinical Characteristics and Treatment Management of Seronegative Myasthenia Gravis: A Systematic Review of the Literature

open access: yesMuscle &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

Deep Neuromuscular Block with Low Pressure Pneumoperitoneum in Laparoscopic Abdominal Surgeries: A Randomized Controlled Trial. [PDF]

open access: yesAnesth Pain Med
Mohamed Ibrahim A   +8 more
europepmc   +1 more source

IgG Subclass (IgG1‐4) and IgA Autoantibody Profiles Against Muscle‐Specific Kinase in a Greek Cohort

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Muscle‐specific kinase myasthenia gravis (MuSK‐MG) is an autoimmune neuromuscular disorder predominantly mediated by IgG4 autoantibodies disrupting MuSK signaling. The contribution of other isotypes remains incompletely defined. We characterized the serological profile of a Greek cohort of MuSK‐MG patients.
Sofia‐Natsοuko Gkotzamani   +22 more
wiley   +1 more source

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