Results 41 to 50 of about 9,662,184 (369)

Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. [PDF]

, 2018
Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field.
A. (2018).,, Bertolin, C., Cipolletta, S., Kleinbub, J. R., Marcato, S., Martinelli, I., Palmieri, Arianna, Pegoraro, E, Pick, E., Querin, G., Sorar\uf9, G.   +10 more
core   +1 more source

Respiratory muscle training in children and adults with neuromuscular disease.

Cochrane Database of Systematic Reviews, 2019
BACKGROUND Neuromuscular diseases (NMDs) are a heterogeneous group of diseases affecting the anterior horn cell of spinal cord, neuromuscular junction, peripheral nerves and muscles.
Ivanizia S Silva, Rafaela Pedrosa, I. G. Azevedo, Anne-Marie Forbes, Guilherme A F Fregonezi, Mário Et Dourado Junior, Suzianne Rh Lima, G. Ferreira   +7 more
semanticscholar   +1 more source

Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening [PDF]

, 2018
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
Connolly, Anne, Crawford, Thomas O, Darras, Basil, Day, John, Finkel, Richard, Glascock, Jacqueline, Haidet-Phillips, Amanda, Howell, R. Rodney, Jarecki, Jill, Ker, Douglas, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Sampson, Jacinda, Shieh, Perry B   +14 more
core   +2 more sources

Exploration of New Contrasts, Targets, and MR Imaging and Spectroscopy Techniques for Neuromuscular Disease – A Workshop Report of Working Group 3 of the Biomedicine and Molecular Biosciences COST Action BM1304 MYO-MRI

Journal of Neuromuscular Diseases, 2019
Neuromuscular diseases are characterized by progressive muscle degeneration and muscle weakness resulting in functional disabilities. While each of these diseases is individually rare, they are common as a group, and a large majority lacks effective ...
G. Strijkers, E. Araujo, N. Azzabou, D. Bendahan, A. Blamire, J. Burakiewicz, P. Carlier, B. Damon, X. Deligianni, M. Froeling, A. Heerschap, K. Hollingsworth, M. Hooijmans, D. Karampinos, G. Loudos, G. Madelin, B. Marty, A. Nagel, A. Nederveen, J. Nelissen, F. Santini, O. Scheidegger, F. Schick, C. Sinclair, R. Sinkus, P. L. de Sousa, V. Straub, Glenn A Walter, H. Kan   +28 more
semanticscholar   +1 more source

Anthropometry of arm: nutritional risk indicator in amyotrophic lateral sclerosis

Neurology International, 2015
The aim of the paper is to examine the correlation between clinical data, nutritional, respiratory and functional parameters in amyotrophic lateral sclerosis (ALS). This is a descriptive study of 111 ALS patients [91 spinal onset (GS) and 20 bulbar onset
Cristina Cleide dos Santos Salvioni, Patricia Stanich, Acary Souza Bulle Oliveira, Marco Orsini   +3 more
doaj   +1 more source

Split hand phenomenon: An early marker for amyotrophic lateral sclerosis

Revista Mexicana de Neurociencia, 2021
Background: Amyotrophic lateral sclerosis (ALS) is a progressive disease characterized by degeneration of upper and lower motor neurons. Time from symptom onset to confirmed diagnosis has been reported from 8 to 15 months in ALS.
Javier A. Galnares-Olalde, Juan C. López-Hernández, Jorge de Saráchaga-Adib, Roberto Cervantes-Uribe, Edwin S. Vargas-Cañas   +4 more
doaj   +1 more source

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio, DiPaolo, Giovanni, Guglieri, Michela, Jimenez-Moreno, Cecilia, Lochmüller, Hanns, Monckton, Darren G., Nikolenko, Nikoletta   +6 more
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Evaluating mitochondrial length, volume, and cristae ultrastructure in rare mouse adult stem cell populations

STAR Protocols, 2023
Summary: Since changes in mitochondrial morphology regulate key functions of stem cells, it is important to assess their structure under physiological and pathophysiological conditions.
Matthew Triolo, Steven Wade, Nicole Baker, Mireille Khacho   +3 more
doaj   +1 more source

Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy [PDF]

, 2016
Acknowledgments Blood biochemistry analysis and serum analysis were performed by the Easter Bush Pathology Department, University of Edinburgh. Animal husbandry was performed by Centre for Integrative Physiology bio-research restructure technical staff ...
Azzouz, Mimoun, Becker, Catherina G., Boyd, Penelope, Come, Julian, Gillingwater, Thomas H., Groen, Ewout J.N., Hunter, Gillian, Jones, Ross A., Karyka, Evangelina, Martinat, Cecile, Parson, Simon H., Powis, Rachael A., Szunyogova, Eva, Thomson, Derek, Wishart, Thomas M., Zheng, Yinan   +15 more
core   +3 more sources

Immunological Targets in Generalized Myasthenia Gravis Treatment: Where Are We Going Now?

Brain Sciences
Background: Generalized myasthenia gravis (gMG) is a heterogeneous autoimmune disorder marked by antibody-mediated disruption of neuromuscular transmission.
Elena Rossini, Luca Leonardi, Stefania Morino, Giovanni Antonini, Laura Fionda   +4 more
doaj   +1 more source