Results 1 to 10 of about 374,420 (242)

Are mice good models for human neuromuscular disease? Comparing muscle excursions in walking between mice and humans [PDF]

, 2017
The mouse is one of the most widely used animal models to study neuromuscular diseases and test new therapeutic strategies. However, findings from successful pre-clinical studies using mouse models frequently fail to translate to humans due to various ...
A De Luca, A Rajagopal, A Soman, AA Biewener, AA Biewener, AC Ludolph, AEH Emery, AL Camp, AV Birn-Jeffery, BH Wokke, BJ Petrof, C Pastoret, C Webster, CM Consolino, CM Eng, DM Escolar, E Azizi, E Mok, EK Moo, EM Arnold, EM Arnold, EM Arnold, FA Jenkins, FE Zajac, GM Buyse, GT Carter, H Radley-Crabb, H Stedman, HB van der Worp, HM Hsieh-Li, IG Kirkinezos, J Manning, JA Granchelli, JA Vilensky, JH Veldink, JJ Kaczor, JK Mah, JN Kornegay, JN Kornegay, JP Charles, JP Charles, JR Chamberlain, JW Carnwath, JW McGreevy, KA Clarke, KN An, L Xu, LM Ittner, M Benatar, M Bodor, M Millard, MD Grounds, MD Klein Horsman, ME Gurney, ME Llewellyn, MP Kadaba, N Alexander, N Serradj, NP Whitehead, P DeVita, P Moens, P Sicinski, R Burdi, R Willmann, R Willmann, RH Miller, RW Burgess, SL Delp, SL Delp, SR Ward, SS Blemker, SV Brooks, T Akay, TA McMahon, TA Partridge, TS Buchanan, V Brussee, VC Henderson, X Chen, X Chen, X Hu, ZJ Domire   +81 more
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Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]

, 2016
Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua, McDermott, Suzanne, Reichard, Amanda, Royer, Julie, Ruttenber, Margaret, Smith, Michael G., Valdez, Rodolfo   +6 more
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Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]

, 2015
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania, Parente, Valeria, Porro, Francesca, Rinchetti, Paola, Vanoli, Fiammetta   +4 more
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[Muscular diseases in hyperthyroidism].

Acta medica portuguesa, 1995
Hyperthyroidism may present various muscular diseases, namely thyrotoxic chronic myopathy, myasthenia gravis, disthyroid ophthalmopathy and thyrotoxic periodic paralysis. Although infrequent, it is possible to find some of these clinical situations in a medical ward of a general hospital.
J Fortuna, M João Neto, F Pissarra, Joaquim Gonçalves, Marina Maria Baltazar de Carvalho, C Morais   +5 more
openaire   +3 more sources

Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations [PDF]

, 2005
Gene-poor human chromosomes are reproducibly found at the nuclear periphery in proliferating cells. There are a number of inner nuclear envelope proteins that may have roles in chromosome location and anchorage, e.g. emerin and A-type lamins.
Bridger, JM, Levy, N, Meaburn, KJ, Toniolo, D   +3 more
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Rate of complications due to neuromuscular scoliosis spine surgery in a 30-years consecutive series [PDF]

, 2017
PURPOSE: The aim of this study was to evaluate the rate of intraoperative and postoperative complications in a large series of patients affected by neuromuscular scoliosis. METHODS: It was a monocentric retrospective study.
CALDERARO, COSMA, Di Sanzo, Vincenzo, FERRETTI, Andrea, LABIANCA, LUCA, Montanaro, Antonello, Turturro, Francesco   +5 more
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Modulation of PGC-1α activity as a treatment for metabolic and muscle-related diseases [PDF]

, 2014
Physical inactivity is a predisposing factor for various disease states including obesity, cardiovascular disease, as well as for certain types of cancer. Regular endurance exercise mediates several beneficial effects such as increased energy expenditure
Handschin, Christoph, Svensson, Kristoffer   +1 more
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Translational and Regulatory Challenges for Exon Skipping Therapies [PDF]

, 2014
Several translational challenges are currently impeding the therapeutic development of antisense-mediated exon skipping approaches for rare diseases. Some of these are inherent to developing therapies for rare diseases, such as small patient numbers and ...
Aartsma-Rus, A, Balabanov, P, Bushby, K, Duchenne Parent Project, European Med Agency, Ferlini, A, Ferrara, Italy, Goemans, N, Groningen, Katholieke Univ Leuven, Leiden Uni Medical Center, Newcastle, Pasmooij, A M G, Vroom, E, Wells, D J   +14 more
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Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway [PDF]

, 2015
Oxidative stress is involved in the pathogenesis of Duchenne muscular dystrophy (DMD), an X-linked genetic disorder caused by mutations in the dystrophin gene and characterized by progressive, lethal muscle degeneration and chronic inflammation.
Petrillo, Sara, Pelosi, Laura, Piemonte, Fiorella, Travaglini, Lorena, Forcina, Laura, Catteruccia, Michela, Petrini, Stefania, Verardo, Margherita, D'Amico, Adele, Musaro', Antonio, Bertini, Enrico   +10 more
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Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2009
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Brumett, Donaghy, Farmer, Forst, Forst, Geboers, Geboers, Geboers, Germain, Hove, Hyde, Jadad, Jaivin, Kooi, Kooi, Kooi, Kooi, Lindeman, Manzur, Manzur, Matjaic, McDonald, Olsen, Refshauge, Richardson, Rideau, Rozier, Sackley, Tropp, Tulder, Turner-Stokes, Vigasio, Wiesinger, Wiesseman   +33 more
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