Results 41 to 50 of about 2,312,065 (203)

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders [PDF]

, 2018
Respiratory muscles are classically involved in neuromuscular disorders, leading to a restrictive respiratory pattern. The diaphragm is the main respiratory muscle involved during inspiration. Ultrasound imaging is a noninvasive, radiation-free, accurate
Abdallah Fayssoil, Stojkovic, T., Adam Ogna, Lofaso, F., Orlikowski, D., Pascal Laforet, Robert Carlier, Ogna, A., Bruno Eymard, Behin, A., Arnaud Mansart, Prigent, H., Tanya Stojkovic, Helge Amthor, Amthor, H., Laforet, P., Mansart, A., Eymard, B., Carlier, R., Fayssoil, A., Dominique Mompoint, Mompoint, D., Clair, B., Bernard Clair, Annane, D., Stéphane Vinit, Djillali Annane, Frederic Lofaso, David Orlikowski, Helene Prigent, Anthony Behin, Vinit, S.   +31 more
core   +1 more source

Anxiety, Depression, and Expanded Disability Status Scale Independently Predict the Perception of Disability in Persons With Multiple Sclerosis: A Cross-Sectional Study

Behavioural Neurology
Multiple sclerosis (MS) is the most common cause of disability in young adults due to several motor, sensory, and cognitive symptoms. However, little is still known about the impact of psychological, cognitive, and social-support variables on subjective ...
Chiara Curatoli, Alessia Marcassoli, Filippo Barbadoro, Arianna Fornari, Matilde Leonardi, Alberto Raggi, Silvia Schiavolin, Rachele Terragni, Carlo Antozzi, Laura Brambilla, Valentina Torri Clerici, Paolo Confalonieri, Renato Mantegazza, Martina Lanza   +13 more
doaj   +1 more source

Assessing the Safety and Efficacy of Lamotrigine as Anti-myotonic Agent in Myotonic Dystrophy Type 1 (DM1): A Longitudinal, Open-Label, Pilot Study

Neurology and Therapy
Introduction Myotonia, defined as impaired relaxation of skeletal muscles after voluntary contraction or electrical stimulation, is a core feature of myotonic dystrophy type 1 (DM1) and can be highly disabling.
Barbara Risi, Nesaiba Ait Allali, Stefano Cotti Piccinelli, Filomena Caria, Simona Damioli, Beatrice Labella, Enrica Bertella, Giorgia Giovanelli, Francesca Garofali, Giuseppina Margollicci, Roberto Carugati, Lucia Ferullo, Emanuele Olivieri, Loris Poli, Alessandro Padovani, Massimiliano Filosto   +15 more
doaj   +1 more source

Acceptability of a Protein Oral Nutritional Supplement with Xanthan Gum in Patients with Neuromuscular Diseases and Dysphagia: A Cross-Sectional Study

Gastrointestinal Disorders
Background/Objectives: Oropharyngeal dysphagia (OD) is a prevalent symptom in patients with neuromuscular diseases (NMDs) and increases the risk of aspiration and malnutrition.
Federica Felloni, Luca Costantini, Michela Coccia   +2 more
doaj   +1 more source

A case of motor neuron involvement in Gaucher disease

Molecular Genetics and Metabolism Reports, 2019
Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive ...
V. Pozzilli, F. Giona, M. Ceccanti, C. Cambieri, V. Frasca, E. Onesti, L. Libonati, S. Di Bari, I. Fiorini, L. Cardarelli, M. Santopietro, M. Inghilleri   +11 more
doaj   +1 more source

NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease

Scientific Reports, 2021
The neuromuscular junction (NMJ) is the peripheral synapse formed between a motor neuron axon terminal and a muscle fibre. NMJs are thought to be the primary site of peripheral pathology in many neuromuscular diseases, but innervation/denervation status ...
Alan Mejia Maza, Seth Jarvis, Weaverly Colleen Lee, Thomas J. Cunningham, Giampietro Schiavo, Maria Secrier, Pietro Fratta, James N. Sleigh, Elizabeth M. C. Fisher, Carole H. Sudre   +9 more
doaj   +1 more source

A synaptic nidogen: developmental regulation and role of nidogen-2 at the neuromuscular junction [PDF]

, 2008
Background: The skeletal neuromuscular junction is a useful model for elucidating mechanisms that regulate synaptogenesis. Developmentally important intercellular interactions at the neuromuscular junction are mediated by the synaptic portion of a basal ...
Fox Michael A, Ho Matthew SP, Fox, Michael, Sanes Joshua R, Sanes, Joshua R, Ho, Matthew S. P., Smyth, Neil, Sanes, Joshua, Smyth Neil, Fox, Michael A., Sanes, Joshua R., Ho, Matthew S.P., Ho, Matthew SP   +12 more
core   +1 more source

Temporal and intra-horse consistency of circulating myostatin concentrations in Thoroughbred racehorses

Scientific Reports
In Thoroughbred horses, a highly prevalent short interspersed nuclear element (SINE) mutation in the myostatin gene (MSTN) promoter influences circulating myostatin concentration and is associated with muscle morphology, fracture risk and optimal race ...
Katherine Hanousek, Victoria O’Hara, Dominique O. Riddell, Richard J. Piercy   +3 more
doaj   +1 more source

Challenges Faced by Women With Neuromuscular Diseases When Having to Urinate Away From Home

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   +1 more source

Late-Onset Pompe Disease with Nemaline Bodies

Case Reports in Neurological Medicine, 2018
Pompe disease is an autosomal recessive disorder characterized by deficiency of alpha-glucosidase, a lysosomal enzyme, which can lead to glycogen accumulation in skeletal muscle, heart, and nervous system.
E. Frezza, C. Terracciano, M. Giacanelli, E. Rastelli, G. Greco, R. Massa   +5 more
doaj   +1 more source