Results 11 to 20 of about 9,606,287 (373)

Screening and evaluation tools of dysphagia in children with neuromuscular diseases: a systematic review [PDF]

Developmental Medicine & Child Neurology, 2016
Nicolas Audag, Christophe Goubau, Michel Toussaint, Grégory Reychler   +3 more
openalex   +2 more sources

Neuromuscular Diseases

Practical Trends in Anesthesia and Intensive Care 2018, 2019
A wide range of neuromuscular diseases (NMDs) may result in dysfunction of the ventilatory pump and consequently lead to complications such as respiratory failure, sleep disorder, aspiration pneumonia and death. Respiratory disorders are the primary cause of mortality in NMDs, and appropriate management of patients can prevent complications and prolong
Fabrizio Racca, Brunella Gily
semanticscholar   +4 more sources

Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001)

Orphanet Journal of Rare Diseases, 2021
Background Rare neuromuscular diseases such as spinal muscular atrophy, spinal bulbar muscular atrophy, muscular dystrophy, Charcot-Marie-Tooth disease, distal myopathy, sporadic inclusion body myositis, congenital myopathy, and amyotrophic lateral ...
T. Nakajima, Y. Sankai, S. Takata, Yoko Kobayashi, Yoshihito Ando, Masanori Nakagawa, Toshio Saito, Kayoko Saito, C. Ishida, A. Tamaoka, T. Saotome, T. Ikai, Hisako Endo, K. Ishii, M. Morita, Takashi Maeno, K. Komai, Tetsuhiko Ikeda, Y. Ishikawa, S. Maeshima, M. Aoki, Michiya Ito, T. Mima, Toshihiko Miura, Jun Matsuda, Yumiko Kawaguchi, Tomohiro Hayashi, Masahiro Shingu, H. Kawamoto   +28 more
semanticscholar   +1 more source

First Regulatory Qualification of a Novel Digital Endpoint in Duchenne Muscular Dystrophy: A Multi-Stakeholder Perspective on the Impact for Patients and for Drug Development in Neuromuscular Diseases

Digital Biomarkers, 2021
Background: Functional outcome measures used to assess efficacy in clinical trials of investigational treatments for rare neuromuscular diseases like Duchenne muscular dystrophy (DMD) are performance-based tasks completed by the patient during hospital ...
L. Servais, E. Camino, A. Clément, C. McDonald, Jacek Lukawy, L. Lowes, D. Eggenspieler, F. Cerreta, Paul Strijbos   +8 more
semanticscholar   +1 more source

Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases

Journal of Neuromuscular Diseases, 2021
Research and drug development concerning rare diseases are at the cutting edge of scientific technology. To date, over 7,000 rare diseases have been identified.
Y. Aoki, M. Wood
semanticscholar   +1 more source

Aberrant NLRP3 Inflammasome Activation Ignites the Fire of Inflammation in Neuromuscular Diseases

International Journal of Molecular Sciences, 2021
Inflammasomes are molecular hubs that are assembled and activated by a host in response to various microbial and non-microbial stimuli and play a pivotal role in maintaining tissue homeostasis.
Christine Péladeau, J. Sandhu
semanticscholar   +1 more source

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

International Journal of Molecular Sciences, 2020
Skeletal muscle and the nervous system depend on efficient protein quality control, and they express chaperones and cochaperones at high levels to maintain protein homeostasis. Mutations in many of these proteins cause neuromuscular diseases, myopathies,
J. Sarparanta, P. Jonson, S. Kawan, B. Udd   +3 more
semanticscholar   +1 more source

The Impact of Mitochondrial Deficiencies in Neuromuscular Diseases

Antioxidants, 2020
Neuromuscular diseases (NMDs) are a heterogeneous group of acquired or inherited rare disorders caused by injury or dysfunction of the anterior horn cells of the spinal cord (lower motor neurons), peripheral nerves, neuromuscular junctions, or skeletal ...
Judith Cantó-Santos, J. M. Grau-Junyent, G. Garrabou   +2 more
semanticscholar   +1 more source

Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates [PDF]

, 2020
Perturbations in skeletal muscle metabolism have been reported for a variety of neuromuscular diseases. However, the role of metabolism after constriction injury to a nerve and the associated muscle atrophy is unclear.
Afzal, Shoaib, Kempa, Stefan, Langer, Henning Tim, Spuler, Simone   +3 more
core   +2 more sources

Improving translational studies: lessons from rare neuromuscular diseases [PDF]

, 2015
Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
core   +3 more sources