Results 161 to 170 of about 59,298 (301)

Neuromuscular disorders of infancy, childhood, and adolescence : a clinician's approach / [PDF]

Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science ...
Ryan, Monique M.,editor., De Vivo, Darryl C.,editor., Jones, H. Roydeneditor., Darras, Basil T.,editor.   +3 more
core  

Fibro-Adipogenic Progenitors Regulate Orofacial Neuromuscular Junction Regeneration via Myostatin. [PDF]

J Cachexia Sarcopenia Muscle
Li R, Liu R, Huang Y, Wang Y, Cheng X, Li J, Zou S, Yin X.   +7 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

A skeletal muscle atlas shows neuromuscular junction adaptations to growth and atrophy. [PDF]

Dev Cell
Campanario S, Grima-Terrén M, Rommelfanger M, Dell' Orso S, Feng X, Cisneros A, Ramírez-Pardo I, Calls-Cobos A, Yang BA, Ko KD, García-Domínguez E, Pena-Couso L, Chou G, Zheng Y, Hah N, Randazzo D, Pérez-Garcia A, Markowitz TE, Milisenda J, Pinal-Fernandez I, Mammen A, Gómez-Cabrera MC, Serrano AL, Perdiguero E, Sartorelli V, Isern J, Muñoz-Cánoves P.   +26 more
europepmc   +1 more source

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

Muscle &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

Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease. [PDF]

Mamm Genome
Snape L, Sleigh JN.
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

Identification of Erbin interlinking MuSK and ErbB2 and its impact on acetylcholine receptors aggregation at the neuromuscolar junction [PDF]

, 2009
Simeone, Luca
core  

Glutamate Receptors at the Embryonic Zebrafish Neuromuscular Junction [PDF]

Glutamate receptors are known to have a wide range of diversity in the CNS, but are largely absent in the mature neuromuscular junction. However, recent research has shown that they are present in muscle tissue during embryonic development, before being ...
Randall, Trenton
core  

The Neuromuscular Junction Distribution in the Upper Face: An Anatomy-to-Practice Review to Inform Botulinum Toxin Type A Treatment Planning. [PDF]

J Cosmet Dermatol
Magacho-Vieira FN.
europepmc   +1 more source