Results 91 to 100 of about 9,662,184 (369)

Advanced therapeutic strategy for hereditary neuromuscular diseases [PDF]

, 2021
Wuh‐Liang Hwu, Shin‐ichi Muramatsu, Yin‐Hsiu Chien, Barry J. Byrne   +3 more
openalex   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Dissection and Whole-Mount Immunofluorescent Staining of Mouse Hind Paw Muscles for Neuromuscular Junction Analysis

Bio-Protocol
The neuromuscular junction (NMJ) is a peripheral synaptic connection between a lower motor neuron and skeletal muscle fibre that enables muscle contraction in response to neuronal stimulation.
Rebecca Simkin, Elena Rhymes, Qiuhan Lang, Nicol Birsa, James Sleigh   +4 more
doaj   +1 more source

Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy [PDF]

, 2013
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (SMN1) gene. Recent breakthroughs in preclinical research have highlighted several potential novel therapies for SMA, increasing ...
Gillingwater, T. H., Hunter, G., Lamont, D. J., Mutsaers, C. A., Wishart, T. M.   +4 more
core   +3 more sources

In‐Depth Profiling Highlights the Effect of Efgartigimod on Peripheral Innate and Adaptive Immune Cells in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin, Liu Dong, Ying Wang, Dingxian He, Chong Yan, Jianying Xi, Haoqin Jiang, Yu Shi, Ming Guan, Chongbo Zhao, Jie Song, Sushan Luo   +11 more
wiley   +1 more source

Toll-Like Receptor 4 Modulates Small Intestine Neuromuscular Function through Nitrergic and Purinergic Pathways [PDF]

, 2017
Objective: Toll-like receptors (TLRs) play a pivotal role in the homeostatic microflora-host crosstalk. TLR4-mediated modulation of both motility and enteric neuronal survival has been reported mainly for colon with limited information on the role of ...
Cecilia Giulivi, Cecilia Giulivi, Eleonora Napoli, Francesca Galuppini, Genny Orso, Ilaria Marsilio, Isabella Lante, Maria Cecilia Giron, Massimo Rugge, Mona Roozfarakh, Silvia Cerantola, Silvia Cerantola, Valentina Caputi   +12 more
core   +3 more sources

The prevalence and severity of disease-related disabilities and their impact on quality of life in neuromuscular diseases

Disability and Rehabilitation, 2019
Purpose: People with neuromuscular disease experience lower quality of life levels than people from the general population. We examined the prevalence and severity of a broad range of neuromuscular disease-related disabilities and their impact on health ...
I. Bos, K. Wynia, J. Almansa, G. Drost, B. Kremer, J. Kuks   +5 more
semanticscholar   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source

The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. [PDF]

, 2013
IntroductionDuchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren.
Abresch, R Ted, Barth, Jay, Eagle, Michelle, Elfring, Gary, Florence, Julaine M, Gappmaier, Eduard, Glanzman, Allan M, Henricson, Erik K, McDonald, Craig M, Peltz, Stuart, PTC124-GD-007-DMD Study Group, Reha, Allen, Spiegel, Robert   +12 more
core   +2 more sources

Chronic Autoimmune Neuromuscular Disease Myasthenia Gravis Effect on Nerves and Voluntary Muscles [PDF]

, 2021
Austin L. Brown
openalex   +1 more source