Results 171 to 180 of about 9,606,287 (373)

SELENON-related myopathy as a cause of acute respiratory failure in middle age: a case report

Journal of Medical Case Reports
Background SELENON-related myopathy is a rare autosomal recessive congenital neuromuscular disorder linked to defects in the selenoprotein N. The clinical onset typically occurs in infancy and axial weakness, rigid spine, and respiratory involvement are ...
Barbara Risi, Filomena Caria, Simona Damioli, Beatrice Labella, Gaetana Lanzi, Mattia Bugatti, Carla Baronchelli, Enrica Bertella, Giorgia Giovanelli, Lucia Ferullo, Emanuele Olivieri, Loris Poli, Alessandro Padovani, Massimiliano Filosto   +13 more
doaj   +1 more source

Methodology and Design of a National Epidemiological Study on Adult Neuromuscular Disease [PDF]

, 2014
Stela Lefter, Orla Hardiman, Aisling Ryan   +2 more
openalex   +1 more source

Engineered GM1 Intersects Between Mitochondrial and Synaptic Pathways to Ameliorate ALS Pathology

Advanced Science, EarlyView.
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease driven by genetic and molecular disruptions affecting energy balance, protein homeostasis, and stress responses in nerve cells. Studies using human and rodent models identified convergent defects in mitochondria and synaptic function.
Federica Pilotto, Tristan Dellazizzo Toth, Silvano Bond, Alexander Schmitz, Rim Diab, Sara Y. Ngo Tenlep, Brian Mooney, Silvia Erni, Martina Schobesberger, Olivier Scheidegger, Camille Peitsch, Smita Saxena   +11 more
wiley   +1 more source

Magnetically Responsive Piezoelectric Nanocapacitors Enhance Neural Recovery Following Spinal Cord Injury via Targeted Spinal Magnetic Stimulation

Advanced Science, EarlyView.
This study presents a novel “in vivo–in vitro” therapeutic strategy for spinal cord injury by leveraging magnetically responsive piezoelectric nanomaterials. These nanomaterials enable targeted delivery of localized electrical stimulation at the injury site through noninvasive external magnetic actuation, thereby promoting axonal regeneration and ...
Zhihang Xiao, Tingting Li, Lechi Zhang, Chunya Xia, Zelin Su, Xuyan Ren, Yingjie Fan, Zerui Wu, Yaobo Liu, Min Su   +9 more
wiley   +1 more source

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

Acta Neuropathologica Communications, 2018
Sara Gibertini, Alessandra Ruggieri, Simona Saredi, Franco Salerno, Flavia Blasevich, Laura Napoli, Maurizio Moggio, Vincenzo Nigro, Lucia Morandi, Lorenzo Maggi, Marina Mora   +10 more
doaj   +1 more source

Neuromuscular disease and extubation dysphagia [PDF]

, 2013
David Smithard
openalex   +1 more source

Targeting Microglial CD49a Inhibits Neuroinflammation and Demonstrates Therapeutic Potential for Parkinson's Disease

Advanced Science, EarlyView.
This study shows that integrin receptor CD49a (Itga1 gene) is significantly upregulated in hyperactivated microglia and microglia‐specific knockdown of Itga1 rescues neuroinflammation and neurodegeneration in a chronic Parkinson's disease (PD) model by targeting PGAM5‐mediated mitochondrial dysfunction and NLRP3 activation. Targeted inhibition of CD49a
Huanpeng Lu, Yunmin Zhu, Xi Wang, Zelin Wu, Zijian Xu, Rongqing Chen, Yanwu Guo   +6 more
wiley   +1 more source

Neuromuszkuláris betegségek • Neuromuscular Diseases

, 2023
Judit Boczán, Klára Fekete, L. Oláh
openalex   +2 more sources

A Wearable System Featuring Biomimetic Spatially Distributed Iontronic Sensing Array for Dynamic Monitoring of Deep Tissue Modulus

Advanced Science, EarlyView.
A fully wearable system enables real‐time, dynamic, and accurate monitoring of Young's modulus in multilayer tissues containing deep muscle. It demonstrates high accuracy and robustness across simulations, benchtop validations, and human testing. It quantifies edema severity and tracks muscle stiffness during rest, loaded elbow flexion, rope skipping ...
Zhenning Wang, Chaohua Fang, Ruoyu Sun, Chenghao Feng, Xiaoyuan Wang, Hao Bi, Yidan Wu, Jiangdong Gong, Yuyang Wang, Jiahao Guo, Yu Chang, Huizhi Wang, Tingrui Pan   +12 more
wiley   +1 more source

Amyotrophic Lateral Sclerosis [PDF]

, 2019
The word amyotrophic is derived from Greek, and means “without nourishment to muscles”, lateral means to the sides and sclerosis means hardened (“What is ALS?,” n.d.).
Georgetson, Anastasia M.
core   +1 more source