Results 11 to 20 of about 198,800 (341)

Neuromuscular Diseases [PDF]

, 1984
C. Wiles
openalex   +2 more sources

NEUROLOGICAL AND NEUROMUSCULAR DISEASE

British Journal of Anaesthesia, 1986
Aspects du controle nerveux de la respiration. Syndrome de Guillain Barre. Myasthenie.
L. Loh
openalex   +4 more sources

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

Cross-sectorial collaboration on policy-driven rehabilitation care models for persons with neuromuscular diseases: reflections and behavior of community-based health professionals

BMC Health Services Research, 2022
Background Persons with neuromuscular diseases (NMDs) often experience complex rehabilitation needs due to the disease’s impact on their functioning and progression of their diseases.
Charlotte Handberg, Ulla Werlauff
doaj   +1 more source

A highly prevalent SINE mutation in the myostatin (MSTN) gene promoter is associated with low circulating myostatin concentration in Thoroughbred racehorses

Scientific Reports, 2021
Horse racing is a popular and financially important industry worldwide and researchers and horse owners are interested in genetic and training influences that maximise athletic performance.
Victoria O’Hara, Amélie Cowan, Dominique Riddell, Claire Massey, John Martin, Richard J. Piercy   +5 more
doaj   +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

Biobank of Cells, Tissues and DNA from Patients with Neuromuscular Diseases: An Indispensable link between Clinical Centers and the Scientific Community

Open Journal of Bioresources, 2017
The Biobank was established in 1986 as part of the routine diagnostic activity of the Division of Neuromuscular Diseases and Neuroimmunology, of the Carlo Besta Neurological Institute.
Marina Mora, Cinzia Bragato, Sara Gibertini, Simona Zanotti, Maurizio Curcio, Eleonora Canioni, Franco Salerno, Flavia Blasevich, Simona Saredi, Alessandra Ruggieri, Maria Barbara Pasanisi, Pia Bernasconi, Lorenzo Maggi, Renato Mantegazza, Francesca Andreetta   +14 more
doaj   +1 more source