Results 1 to 10 of about 10,730,025 (313)

Neuromuscular Diseases and Bone

Frontiers in Endocrinology, 2019
Neuromuscular diseases (NMDs) are inherited or acquired conditions affecting skeletal muscles, motor nerves, or neuromuscular junctions. Most of them are characterized by a progressive damage of muscle fibers with reduced muscle strength, disability, and
G. Iolascon, M. Paoletta, S. Liguori, C. Curci, A. Moretti   +4 more
semanticscholar   +5 more sources

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Circulation, 2017
, , Brian Feingold
exaly   +2 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, Masashi Aoki, Michiya Ito, T. Mima, Toshihiko Miura, Jun Matsuda, Yumiko Kawaguchi, Tomohiro Hayashi, Masahiro Shingu, H. Kawamoto   +28 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

Newborn screening of neuromuscular diseases.

Neuromuscular Disorders, 2021
Neuromuscular diseases represent an heterogenous group of more than 400 diseases, with a very broad phenotypic spectrum. Given their rarity and complexity, neuromuscular diseases are often diagnosed with a very significant delay after which irreversible ...
T. Dangouloff, F. Boemer, L. Servais
semanticscholar   +1 more source

Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions

Biomolecules, 2023
A recessive Short Tandem Repeat expansion in RFC1 has been found to be associated with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), and to be a frequent cause of late onset ataxia and sensory neuropathy.
Stefano Facchini, Natalia Dominik, Arianna Manini, Stephanie Efthymiou, Riccardo Currò, Bianca Rugginini, Elisa Vegezzi, Ilaria Quartesan, Benedetta Perrone, Shahedah Koya Kutty, Valentina Galassi Deforie, Ricardo P. Schnekenberg, Elena Abati, Anna Pichiecchio, Enza Maria Valente, Cristina Tassorelli, Mary M. Reilly, Henry Houlden, Enrico Bugiardini, Andrea Cortese   +19 more
doaj   +1 more source

A cross-sectional evaluation of acceptability of an online palliative rehabilitation program for family caregivers of people with amyotrophic lateral sclerosis and cognitive and behavioral impairments

BMC Health Services Research, 2022
Background Amyotrophic lateral sclerosis (ALS) is a progressive fatal neurodegenerative disease. Around half of the population with ALS develop cognitive and/or behavioral impairment.
Lene Klem Olesen, Karen la Cour, Heidi With, Annette Faber Mahoney, Charlotte Handberg   +4 more
doaj   +1 more source

Combination of serum and CSF neurofilament-light and neuroinflammatory biomarkers to evaluate ALS

Scientific Reports, 2021
This monocentric prospective study of patient suffering from Amyotrophic lateral sclerosis (ALS) aims to evaluate the prognosis and diagnostic potential of both Neurofilament-Light (Nf-L) and neuroinflammatory biomarkers in serum and CSF.
Alexandre Brodovitch, José Boucraut, Emilien Delmont, Amandine Parlanti, Aude-Marie Grapperon, Shahram Attarian, Annie Verschueren   +6 more
doaj   +1 more source

Very-early Guillain-Barré syndrome: Clinical characteristics, electrophysiological findings, and short-term functional outcome

Revista Mexicana de Neurociencia, 2021
Background: Guillain-Barré syndrome (GBS) patients who present very early (< 4 days) to health-care services generally have severe clinical forms due to rapid progression.
Juan C. López-Hernández, Raúl N. May-Mas, Javier A. Galnares-Olalde, Lisette Bazán-Rodríguez, Adib J. de-Saráchaga, Eunice Martínez-Jiménez, Jorge Burgos-Centeno, Elizabeth León-Manríquez, Edwin S. Vargas-Cañas   +8 more
doaj   +1 more source