Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes—a comprehensive review

K Ohno, B Ohkawara, XM Shen, D Selcen… - International journal of …, 2023 - mdpi.com
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders
characterized by impaired neuromuscular signal transmission due to germline pathogenic …

The neuromuscular junction in health and disease: molecular mechanisms governing synaptic formation and homeostasis

PM Rodríguez Cruz, J Cossins, D Beeson… - Frontiers in molecular …, 2020 - frontiersin.org
The neuromuscular junction (NMJ) is a highly specialized synapse between a motor neuron
nerve terminal and its muscle fiber that are responsible for converting electrical impulses …

Neuromuscular junction formation, aging, and disorders

L Li, WC Xiong, L Mei - Annual review of physiology, 2018 - annualreviews.org
Synapses, the fundamental unit in neuronal circuits, are critical for learning and memory,
perception, thinking, and reaction. The neuromuscular junction (NMJ) is a synapse formed …

The ubiquitin proteasome system in atrophying skeletal muscle: roles and regulation

PA Bilodeau, ES Coyne… - American Journal of …, 2016 - journals.physiology.org
Muscle atrophy complicates many diseases as well as aging, and its presence predicts both
decreased quality of life and survival. Much work has been conducted to define the …

[HTML][HTML] State of knowledge on molecular adaptations to exercise in humans: historical perspectives and future directions

KM Lavin, PM Coen, LC Baptista, MB Bell… - Comprehensive …, 2022 - ncbi.nlm.nih.gov
For centuries, regular exercise has been acknowledged as a potent stimulus to promote,
maintain, and restore healthy functioning of nearly every physiological system of the human …

Slc12a8 in the lateral hypothalamus maintains energy metabolism and skeletal muscle functions during aging

N Ito, A Takatsu, H Ito, Y Koike, K Yoshioka, Y Kamei… - Cell Reports, 2022 - cell.com
Sarcopenia and frailty are urgent socio-economic problems worldwide. Here we
demonstrate a functional connection between the lateral hypothalamus (LH) and skeletal …

Advances in ex situ tissue optical clearing

P Matryba, L Kaczmarek, J Gołąb - Laser & Photonics Reviews, 2019 - Wiley Online Library
Examination of whole organs with subcellular resolution in health, disease, and during
development is necessary to decipher their biological complexity. However, until recently …

The emerging role of the sympathetic nervous system in skeletal muscle motor innervation and sarcopenia

O Delbono, ACZ Rodrigues, HJ Bonilla… - Ageing research reviews, 2021 - Elsevier
Examining neural etiologic factors' role in the decline of neuromuscular function with aging
is essential to our understanding of the mechanisms underlying sarcopenia, the age …

Dry needling in active or latent trigger point in patients with neck pain: a randomized clinical trial

L Martín-Sacristán, C Calvo-Lobo, D Pecos-Martín… - Scientific reports, 2022 - nature.com
The purpose was to determine the efficacy of deep dry needling (DDN) applied on an active
myofascial trigger point (MTrP) versus a latent-MTrP versus a non-MTrP location, on pain …

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies

AE Vanhaesebrouck, D Beeson - Current opinion in neurology, 2019 - journals.lww.com
Recent studies of the CMS illustrate the increasing complexity of the genetics and
pathophysiological mechanisms involved. With therapy tailored for the underlying disease …