Results 21 to 30 of about 235,784 (190)

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

Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels

Frontiers in Cell and Developmental Biology, 2022
In vitro models of patient-derived muscle allow for more efficient development of genetic medicines for the muscular dystrophies, which often present mutation-specific pathologies.
Florian Barthélémy, Florian Barthélémy, Jeffrey W. Santoso, Laura Rabichow, Laura Rabichow, Rongcheng Jin, Isaiah Little, Isaiah Little, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Megan L. McCain, Megan L. McCain, M. Carrie Miceli, M. Carrie Miceli   +14 more
doaj   +1 more source

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials [PDF]

, 2016
With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M, Pane, M, Ricotti, V, Manzur, AY, on behalf of UK NorthStar Clinical Network, ., Muntoni, F, Ridout, DA, Mercuri, E, Mayhew, A, Toms B., Childs A., Roper, H., Pallant L., Toms, B, Messina, S, Chow, G, Palmer, J., White C., Sarkozy, A, McMurchie, H., Emery N., Bateman, E., Quinlivan, R, Groves L., Jungbluth, H., Keddie, A, Parsons, B., Senior M., Ridout, Deborah A., Shillington, A., Geary, M, Robb, S., Eagle, M, Childs, A, Mongini, T, Horrocks I., Spinty, S., Muntoni F., Sarkozy, A., Keddie A., Sheehan, J., De Goede C., Manzur, Adnan Y., Scott, E, Greenfield, K., Spahr, R, Willis, T, Wraige E., Mayhew, Anna, Pysden, K., Thomas, N., Bushby, K., Jenkins, L., Baxter, P, Hartley, L, Majumdar A., Thomas N., Robb, S, Pane, Marika, Bateman E., Willis T., Main, Marion, Pallant, L., Ridout D. A., Guglieri M., Roper, H, Pini, A, Robb S., Mercuri E., Wraige, E., Pallant, L, Groves, L., Chow, G., White, C, Jungbluth H., Majumdar, A, Bruno, C, Childs, A., Senior, M, Miah, A, Straub V., Battini, R, POLITANO, Luisa, Hartley L., MESSINA, Sonia, Cammiss, C, Bateman, E, Pysden K., Senior, M., Scott E., White, C., Muntoni, Francesco, Jenkins L., McMurchie H., Eagle, M., Peachey G., Peachey, G., Chow G., Bushby, K, Guglieri, M, Miah, A., Di Marco, M, Miah A., de Goede, C, Greenfield K., Butler, J., Hartley, L., Horrocks, I., Jenkins, L, Cammiss C., Hughes, I., Straub, V, Parsons B., Baxter, P., Bushby K., Cammiss, C., Parsons, B, Pane M., Greenfield, K, Keddie, A., Mercuri, Eugenio, Mayhew A., Hughes I., Naismith, K., Pysden, K, Roper H., D'Amico, A, Mcmurchie, H, Emery, N, Scott, E., Jungbluth, H, Toms, B., Ricotti, Valeria, Di Marco M., Spahr R., Butler J., Shillington, A, Wilson I., Geary, M., Quinlivan R., Groves, L, De Goede, C., Quinlivan, R., Butler, J, Manzur A. Y., Emery, N., Willis, T., Horrocks, I, Spahr, R., Di Marco, M., Hughes, I, Bertini, E, Peachey, G, Morandi, L., Shillington A., Spinty S., Main M., Spinty, S, Pegoraro, E, Naismith, K, Eagle M., Wilson, I., Palmer, J, Sheehan J., Baxter P., Guglieri, M., Comi, G, Sarkozy A., Ricotti V., Wilson, I, Naismith K., Thomas, N, Berardinelli, A, Wraige, E, Geary M., Sheehan, J, Palmer J., Straub, V., Majumdar, A.   +178 more
core   +1 more source

Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang, Ekaterina I. Mokhonova, Genevieve C. Kendall, Diana Becerra, Yalda B. Naeini, Rita M. Cantor, Melissa J. Spencer, Stanley F. Nelson, M. Carrie Miceli   +8 more
doaj   +1 more source

Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]

, 2011
Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core   +1 more source

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Main, M, Morgan, JE, Straub, V, Feng, L, Sewry, CA, Muntoni, F, Lehovsky, J, Arechavala-Gomeza, V, Kinali, M, Hunt, D, Guglieri, M, Bushby, K, Edge, G, Kate Bushby, Volker Straub, Michela Guglieri, David Hunt, Jan Lehovsky, Marion Main, Maria Kinali, Lucy Feng, Virginia Arechavala-Gomeza, Jennifer E. Morgan, Geraldine Edge, Francesco Muntoni, Caroline A. Sewry   +25 more
core   +1 more source

Duchenne Muscular Dystrophy and Brain Function [PDF]

, 2012
Muscular dystrophies have historically been characterised according to clinical criteria, however in the genomic age the muscular dystrophies are now subdivided into groups according to the primary gene defect.
Morley, JW, S.I. Head, J.W. Morley, Head, S ; https://orcid.org/, Anderson, JL, J.L. Anderson   +5 more
core   +2 more sources

Theragnosis for Duchenne Muscular Dystrophy [PDF]

Frontiers in Pharmacology, 2021
Dystrophinopathies cover a spectrum of rare progressive X-linked muscle diseases, arising from DMD mutations. They are among the most common pediatric muscular dystrophies, being Duchenne muscular dystrophy (DMD) the most severe form. Despite the fact that there is still no cure for these serious diseases, unprecedented advances are being made for the ...
Leonela Luce, Leonela Luce, Micaela Carcione, Micaela Carcione, Chiara Mazzanti, Chiara Mazzanti, Paula I. Buonfiglio, Viviana Dalamón, Lilia Mesa, Alberto Dubrovsky, José Corderí, Florencia Giliberto, Florencia Giliberto   +12 more
openaire   +4 more sources

Tadalafil Treatment Delays the Onset of Cardiomyopathy in Dystrophin‐Deficient Hearts

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016
BackgroundCardiomyopathy is a leading cause of mortality among Duchenne muscular dystrophy patients and lacks effective therapies. Phosphodiesterase type 5 is implicated in dystrophic pathology, and the phosphodiesterase type 5 inhibitor tadalafil has ...
David W. Hammers, Margaret M. Sleeper, Sean C. Forbes, Ai Shima, Glenn A. Walter, H. Lee Sweeney   +5 more
doaj   +1 more source

PGC-1alpha regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy [PDF]

, 2007
The coactivator PGC-1alpha mediates key responses of skeletal muscle to motor nerve activity. We show here that neuregulin-stimulated phosphorylation of PGC-1alpha and GA-binding protein (GABP) allows recruitment of PGC-1alpha to the GABP complex and ...
Handschin, C., Kobayashi, Y M, Chin, S, Kobayashi, Y. M., Seale, P., Seale, P, Spiegelman, B. M., Handschin, C, Campbell, K. P., Campbell, K P, Spiegelman, B M, Chin, S.   +11 more
core   +1 more source