Results 1 to 10 of about 189,433 (365)

NEUROLOGICAL AND NEUROMUSCULAR DISEASE

British Journal of Anaesthesia, 1986
Aspects du controle nerveux de la respiration. Syndrome de Guillain Barre. Myasthenie.
L. Loh
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Challenges Faced by Women With Neuromuscular Diseases When Having to Urinate Away From Home [PDF]

Global Qualitative Nursing Research
The aim of this study was to investigate the challenges women with neuromuscular disease face when having to urinate when away from home. The design for this study was qualitative using the interpretive description methodology and the Sense of Coherence ...
Charlotte Handberg, Bente Kristensen, Bente Thoft Jensen, Sarah Glerup, Antoniett Vebel Pharao, Jeanette Strøm, Ulla Werlauff   +6 more
doaj   +2 more sources

DIAGNOSIS IN NEUROMUSCULAR DISEASES

Neurologic Clinics, 1996
The diagnosis of neuromuscular diseases can be challenging and successful in the majority of patients, due to advancements in electrophysiology, muscle and nerve biopsy immunohistochemistry, and cytogenetics. This article reviews diverse topics, highlighting these recent achievements, with an emphasis on how they affect the clinical and laboratory ...
David S. Younger, Gordon Gilbert
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Neuromuscular Diseases [PDF]

, 1984
C. Wiles
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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
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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
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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
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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
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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
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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
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