Results 31 to 40 of about 1,742,640 (300)

Usefulness of the skin-wrinkling test in a patient with probable small fiber neuropathy and Gaucher disease

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023
Background Gaucher disease (GD) is an autosomal recessive disease characterized by an inborn metabolic error. Although pain attributed to skeletal involvement is one of the most frequent symptoms of this condition, some patients may have neuropathic pain.
Renata Dal-Prá Ducci, Michelle Zonkowski Ribas, Enzo Oku Martinazzo, Otto Jesus Hernandez Fustes, Paulo José Lorenzoni, Claudia Suemi Kamoi Kay, Rosana Hermínia Scola   +6 more
doaj   +1 more source

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)

Antioxidants, 2020
The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group of invalidating and progressive rare diseases that share the abnormal accumulation of iron in the basal ganglia.
Isabel Hinarejos, Candela Machuca, Paula Sancho, Carmen Espinós   +3 more
doaj   +1 more source

Rhabdomyolysis after COVID-19 Comirnaty Vaccination: A Case Report

Case Reports in Neurology, 2022
Rhabdomyolysis is an acute disruption in skeletal muscle integrity, leading to the rapid release of 4 muscle contents into the bloodstream, such as creatine kinase (CK). It can have various causes, including infections.
Veerle J. Ruijters, Marjon F.G. van der Meulen, Michael A. van Es, Tessa Smit, Jessica E. Hoogendijk   +4 more
doaj   +1 more source

NF-κB inhibition rescues cardiac function by remodeling calcium genes in a Duchenne muscular dystrophy model

Nature Communications, 2018
The molecular mechanisms leading to heart failure in patients with Duchenne muscular dystrophy are unclear. Here the authors show that NF-κB is activated in the heart of dystrophin-deficient mice and that its ablation rescues cardiac function through ...
Jennifer M. Peterson, David J. Wang, Vikram Shettigar, Steve R. Roof, Benjamin D. Canan, Nadine Bakkar, Jonathan Shintaku, Jin-Mo Gu, Sean C. Little, Nivedita M. Ratnam, Priya Londhe, Leina Lu, Christopher E. Gaw, Jennifer M. Petrosino, Sandya Liyanarachchi, Huating Wang, Paul M. L. Janssen, Jonathan P. Davis, Mark T. Ziolo, Sudarshana M. Sharma, Denis C. Guttridge   +20 more
doaj   +1 more source

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

EMBO Molecular Medicine, 2021
BET1 is required, together with its SNARE complex partners GOSR2, SEC22b, and Syntaxin‐5 for fusion of endoplasmic reticulum‐derived vesicles with the ER‐Golgi intermediate compartment (ERGIC) and the cis‐Golgi.
Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake   +28 more
doaj   +1 more source

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., Carlier, Robert, Annane D, Laforet, Pascal, Laforet P, Prigent H, Clair B, Amthor H, Ogna A, Clair, Bernard, Ogna, Adam, Mompoint D, Mompoint, Dominique, Amthor, Helge, Eymard B, Lofaso, Frederic, Fayssoil A, Orlikowski D, Stojkovic, Tanya, Orlikowski, David, Annane, Djillali, Carlier R, Behin, Anthony, Eymard, Bruno, Vinit S, Prigent, Helene, Vinit, Stéphane, Lofaso F, Stojkovic T, Mansart, Arnaud, Behin A, Mansart A, Fayssoil, Abdallah   +63 more
core   +1 more source

Current view on phenotypic and genetic features of autosomal recessive inherited peripheral neuropathies

Анналы клинической и экспериментальной неврологии, 2019
Inherited peripheral neuropathies (IPNs) are a heterogeneous group of hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies, and hereditary sensory neuropathies.
Aysylu F. Murtazina, Olga A. Shchagina, Sergey S. Nikitin, Elena L. Dadali, Alexander V. Polyakov   +4 more
doaj   +1 more source

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

Orphanet Journal of Rare Diseases, 2021
Background Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19.
Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, Françoise Bouhour, Emmanuelle Salort-Campana, Guillemette Beaudonnet, Louise Debergé, Fanny Duval, Aude-Marie Grapperon, Marion Masingue, Aleksandra Nadaj-Pakleza, Yann Péréon, Frédérique Audic, Anthony Behin, Diane Friedman, Armelle Magot, Jean-Baptiste Noury, Sarah Souvannanorath, Karim Wahbi, Jean-Christophe Antoine, Kévin Bigaut, Jean-Philippe Camdessanché, Pascal Cintas, Rabab Debs, Caroline Espil-Taris, Laurent Kremer, Thierry Kuntzer, Pascal Laforêt, Vincent Laugel, Martial Mallaret, Maud Michaud, Sylvain Nollet, Juliette Svahn, Savine Vicart, Rocio Nur Villar-Quiles, Isabelle Desguerre, David Adams, Sandrine Segovia-Kueny, Géraldine Merret, Elhadi Hammouda, Annamaria Molon, Shahram Attarian   +44 more
doaj   +1 more source

THE NEUROMUSCULAR JUNCTION DISORDERS [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2003
Neuromuscular junction (NMJ) disorders result from destruction, malfunction or absence of one or more key proteins involved in neuromuscular transmission, illustrated diagrammatically in fig 1. The most common pathology is antibody mediated damage or down regulation of ion channels or receptors, resulting in myasthenia gravis (MG), Lambert-Eaton ...
openaire   +2 more sources

Idiopathic Hypersomnia Patients Revealed Longer Circadian Period Length in Peripheral Skin Fibroblasts

Frontiers in Neurology, 2018
The vast majority of living organisms have evolved a circadian rhythm of roughly 24 h in adaptation to ever-changing environmental conditions, such as the cycle of light and darkness.
Linus Materna, Hartmut Halfter, Anna Heidbreder, Matthias Boentert, Julian Lippert, Raphael Koch, Peter Young   +6 more
doaj   +1 more source