Results 31 to 40 of about 73,992 (251)

Case report of an exercise training and nutritional intervention plan in a patient with A350P mutation in DES gene. [PDF]

, 2020
Performing a supplementation intervention with creatine and protein, in conjunction with low-intensity endurance and resistance exercise is safe and has a positive effect on the quality of life in a patient with ...
Baar, Keith, Jannas-Vela, Sebastian, Monje, Camila, Zbinden-Foncea, Hermann   +3 more
core   +1 more source

Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models. [PDF]

, 2019
Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Barthélémy, Florian, Douine, Emilie D, Hsu, Christopher, Marcantonio, Eugene E, Miceli, M Carrie, Nelson, Stanley F, Wang, Richard T   +6 more
core   +1 more source

Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations

International Journal of Neonatal Screening, 2018
Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births.
Michele A. Lloyd-Puryear, Thomas O. Crawford, Amy Brower, Kristin Stephenson, Tracy Trotter, Edward Goldman, Aaron Goldenberg, R. Rodney Howell, Annie Kennedy, Michael Watson   +9 more
doaj   +1 more source

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development [PDF]

, 2015
Despite multiple publications on potential therapies for neuromuscular diseases (NMD) in cell and animal models only a handful reach clinical trials. The ability to prioritise drug development according to objective criteria is particularly critical in ...
Allen, Hugh, Bourke, John, Burghes, Arthur, Bushby, Kate, Buyse, Gunnar, Caizergues, Didier, Catlin, Nick, Clemens, Paula, Cnaan, Avital, Comi, Giacomo, Connor, Edward, Csimma, Cristina, Day, Simon, de Luca, Annamaria, de Montleau, Béatrice, de Visser, Marianne, Dittrich, Sven, Dubrosky, Alberto, Eagle, Michelle, Finkel, Richard, Fishbeck, Kenneth, Flanigan, Kevin M., Furlong, Patricia, Grounds, Miranda, Hauschke, Dieter, Heslop, Emma, Hesterlee, Sharon, Hoffman, Eric, Irwin, Joseph, Jarecki, Jill, Kaufmann, Petra, Kelly, Michael, Korinthenberg, Rudolf, Laforêt, Pascal, Larkindale, Jane, Lovering, Richard, Mayer, Henry, McCall, John, McDonald, Robert, McNally, Elizabeth, McNeil, Dawn Elizabeth, McNeil, Elizabeth, Mendell, Jerry, Miller, Debra, Nagaraju, Kanneboyina, North, Kathryn, Ouillade, Marie-Christine, Straub, Volker, Wagner, Kathryn R., Wells, Dominic J.   +49 more
core   +4 more sources

Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to progressive muscle weakness and premature death due to respiratory and/or cardiac complications.
Ball, V, Betts, C A, Gait, M J, Godfrey, C, Hammond, S M, Healicon, R, Manzano, R, McClorey, G, Merritt, T M, Muses, S, O'Donovan, L, Tyler, D, Wells, D J, Wells, K E, Westering, T, Wood, M J   +15 more
core   +3 more sources

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
core   +3 more sources

Development of the accredited duchenne centers program, a global program to achieve uniform and up-to-date care for all people living with duchenne muscular dystrophy

Orphanet Journal of Rare Diseases
The Accredited Duchenne Centers (ADC) Program is a global program initiated by the World Duchenne Organization (WDO). The aim of the ADC Program is to achieve global, uniform and up-to-date care for all people living with Duchenne Muscular Dystrophy (DMD)
Imelda J. M. de Groot, Karolina Podolská, Nathalie Goemans, Suzie-Ann Bakker, Nawel Lalout, Merel Jansen, Elizabeth Vroom   +6 more
doaj   +1 more source

Proximity Begins with a Smile, But Which One? Associating Non-duchenne Smiles with Higher Psychological Distance

Frontiers in Psychology, 2017
This study reveals that Duchenne (genuine) and non-Duchenne (non-genuine, polite) smiles are implicitly associated with psychological proximity and distance, respectively.
Yevgen Bogodistov, Florian Dost
doaj   +1 more source

Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-Study. [PDF]

PLoS ONE, 2016
Altered neuronal nitric oxide synthase function in Duchenne muscular dystrophy leads to impaired mitochondrial function which is thought to be one cause of muscle damage in this disease.
Patricia Hafner, Ulrike Bonati, Beat Erne, Maurice Schmid, Daniela Rubino, Urs Pohlman, Thomas Peters, Erich Rutz, Stephan Frank, Cornelia Neuhaus, Stefanie Deuster, Monika Gloor, Oliver Bieri, Arne Fischmann, Michael Sinnreich, Nuri Gueven, Dirk Fischer   +16 more
doaj   +1 more source

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway [PDF]

, 2017
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.
Bertini, Enrico, Catteruccia, Michela, D'Amico, Adele, FORCINA, LAURA, MUSARO', Antonio, PELOSI, LAURA, Petrillo, Sara, Petrini, Stefania, Piemonte, Fiorella, Travaglini, Lorena, Verardo, Margherita   +10 more
core   +1 more source