Results 61 to 70 of about 392,644 (203)

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A, Baets, J, Clemen, CS, De Bleecker, Jan, De Jonghe, P, De Ridder, W, Eichinger, L, Hofmann, A, Johnson, K, Maudsley, S, Schröder, R, Straub, V, Töpf, A   +12 more
core   +1 more source

Vitamin D, a modulator of musculoskeletal health in chronic kidney disease [PDF]

, 2017
The spectrum of activity of vitamin D goes beyond calcium and bone homeostasis, and growing evidence suggests that vitamin D contributes to maintain musculoskeletal health in healthy subjects as well as in patients with chronic kidney disease (CKD ...
Jordi Bover, Juan J. Carrero, null null, Pablo Molina, Pablo Ureña Torres, Philippe Chauveau, Sandro Mazzaferro   +6 more
core   +2 more sources

Myopathy with anti-HMGCR antibodies: Perimysium and myofiber pathology [PDF]

, 2015
OBJECTIVE: To analyze clinical features and myopathology changes in muscle fibers, connective tissue, and vessels in 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibody–associated myopathies.
Alshehri, Ali, Bucelli, Robert, Choksi, Rati, Pestronk, Alan   +3 more
core   +2 more sources

Osteolytic Breast Cancer Causes Skeletal Muscle Weakness in an Immunocompetent Syngeneic Mouse Model

Frontiers in Endocrinology, 2017
Muscle weakness and cachexia are significant paraneoplastic syndromes of many advanced cancers. Osteolytic bone metastases are common in advanced breast cancer and are a major contributor to decreased survival, performance, and quality of life for ...
Jenna N. Regan, Carter Mikesell, Steven Reiken, Haifang Xu, Andrew R. Marks, Khalid S. Mohammad, Theresa A. Guise, David L. Waning   +7 more
doaj   +1 more source

Capsaicin protects neuromuscular junctions from the inhibitory effects of botulinum neurotoxin A [PDF]

, 2008
Within 24 hrs after injecting botulinum neurotoxin A (BoNT/A) into the hindlimb, mice lost the toe spread reflex and developed progressive muscle weakness. At the same time, the compound muscle action potential amplitude decreased. Injection of capsaicin
Baskaran Thyagarajan, Carmen Garcia, Joseph McArdle, Joseph Potian, Kormakur Hognason, Natalia Krivitskaya   +5 more
core   +1 more source

Myasthenia gravis [PDF]

, 2007
Myasthenia gravis (MG) is a rare, autoimmune neuromuscular junction disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups.
Vern C Juel, Janice M Massey, A Evoli, W Hoch, J McConville, DB Sanders, F Scuderi, A Jaretzki III, LH Phillips 2nd, LH Phillips 2nd, JM Aragones, D Grob, D Grob, PI Andrews, T Santa, T Namba, LH Phillips 2nd, LY Dirr, G Moorthy, DW Mulder, NK Ragge, JF Howard, EV Stålberg, AAEM Quality Assurance Committee, American Association of Electrodiagnostic Medicine, DB Sanders, J Lindstrom, A Vincent, PI Andrews, VA Lennon, DB Sanders, FM Howard Jr, N Cikes, DB Sanders, FE Somnier, AM Yamamoto, A Mygland, Y Chagnac, N Canal, JH Frank, VC Juel, BS McEwen, RM Pascuzzi, TR Johns, C Schneider-Gold, RG Miller, ME Seybold, A Sghirlanzoni, J Palace, U Herrllinger, R Hohlfeld, JT Kissel, RS Tindall, E Ciafaloni, DB Sanders, HW Sollinger, V Chaudhry, E Ciafaloni, MN Meriggioli, D Sanders, S Vernino, MN Meriggioli, NIH Consensus Conference, AF Pinching, PC Dau, C Antozzi, P Gajdos, P Gajdos, AI Qureshi, RB Stricker, P Gajdos, C-S Huang, P Gajdos, E Tan, JB Caress, A Blalock, A Blalock, GI Wolfe, GS Gronseth, VP Perlo, M Rodriguez, DG Mulder, Y Monden, E Beghi, DJ Lanska, F Schumm, A Jaretzki III, A Jaretzki III, A Jaretzki III, GB Bulkley, HJ Oosterhuis, MS Sellman, CE Thomas, KE Osserman, JA Simpson, D Grob   +94 more
core   +3 more sources

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Proprioception mediates the association between systemic inflammation and muscle weakness in patients with knee osteoarthritis: Results from the Amsterdam Osteoarthritis cohort

Journal of Rehabilitation Medicine, 2017
Objectives: To determine whether systemic inflammation is associated with poor proprioception; to confirm that systemic inflammation is associated with muscle weakness; and to determine whether poor proprioception mediates the association between ...
Tomasz Cudejko, Martin van der Esch, Marike van der Leeden, Jasmijn Holla, Leo D. Roorda, Willem Lems, Joost Dekker   +6 more
doaj   +1 more source

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. [PDF]

, 1996
Missense mutations in the skeletal muscle Na+ channel alpha subunit occur in several heritable forms of myotonia and periodic paralysis. Distinct phenotypes arise from mutations at two sites within the III-IV cytoplasmic loop: myotonia without weakness ...
Brown, RH, Cannon, SC, Hayward, LJ
core  

Altered cholesterol homeostasis in critical illness-induced muscle weakness: effect of exogenous 3-hydroxybutyrate

Critical Care, 2021
Background Muscle weakness is a complication of critical illness which hampers recovery. In critically ill mice, supplementation with the ketone body 3-hydroxybutyrate has been shown to improve muscle force and to normalize illness-induced ...
Chloë Goossens, Ruben Weckx, Sarah Derde, Sarah Vander Perre, Inge Derese, Paul P. Van Veldhoven, Bart Ghesquière, Greet Van den Berghe, Lies Langouche   +8 more
doaj   +1 more source