Results 51 to 60 of about 106,524 (297)

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   +2 more sources

Synthesis, Biological Activity, and Molecular Dynamics Simulations of LNA‐Charge Neutral Linkages for Enhanced Splice‐Switching Antisense Oligonucleotides

Angewandte Chemie, EarlyView.
Splice‐switching oligonucleotides are used to treat severe genetic conditions including Duchenne Muscular Dystrophy, but new chemistries are urgently required to improve their efficacy. In this work locked nucleic acid (LNA) is coupled to different charge neutral DNA backbones which are studied by structural, thermodynamic, and biological methods.
Alice Kennett, Lillian Lie, Martin Flerin, Belma Zengin Kurt, Ysobel R. Baker, Alyssa C. Hill, Abinaya Ramesh, Matthew J.A. Wood, Debashis Dhara, Afaf H. El‐Sagheer, Fernanda Duarte, Tom Brown   +11 more
wiley   +2 more sources

Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

Journal of Medical Case Reports, 2011
Introduction Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare.
Kaur Jasmeet, Sharma Sanjeevan, Sharma Ajay, Das Satyaranjan, Nair Velu, Mishra DK   +5 more
doaj   +1 more source

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   +2 more sources

Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy

JAMA Neurology, 2020
This nonrandomized controlled trial analyzes safety, biological, and functional outcomes associated with the infusion of rAAVrh74.MHCK7.micro-dystrophin gene transfer in a small group of patients with Duchenne muscular dystrophy.
J. Mendell, Z. Sahenk, K. Lehman, C. Nease, L. Lowes, N. Miller, M. Iammarino, L. Alfano, A. Nicholl, S. Al-Zaidy, S. Lewis, K. Church, R. Shell, L. Cripe, R. Potter, D. Griffin, E. Pozsgai, A. Dugar, M. Hogan, L. Rodino-Klapac   +19 more
semanticscholar   +1 more source

Generation of three Duchenne muscular dystrophy patient-derived induced pluripotent stem cell (iPSC) lines ICGi002-A, ICGi002-B and ICGi002-C

Stem Cell Research, 2020
Duchenne muscular dystrophy (DMD) is a severe and rapidly progressive hereditary muscular disease with X-linked recessive inheritance, occurring mainly in males.
K.R. Valetdinova, M.A. Maretina, Y.V. Vyatkin, M.P. Perepelkina, A.A. Egorova, V.S. Baranov, A.V. Kiselev, P.M. Gershovich, S.M. Zakian   +8 more
doaj   +1 more source

Palliative care services in families of males with muscular dystrophy: Data from MD STARnet

SAGE Open Medicine, 2019
Introduction: Information on use of palliative care services among individuals with Duchenne and Becker muscular dystrophy is scant despite the clearly documented need.
Jennifer G Andrews, Shree Pandya, Christina Trout, Treeva Jaff, Dennis Matthews, Christopher Cunniff, F John Meaney   +6 more
doaj   +1 more source

Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model

Journal of Patient-Reported Outcomes, 2021
Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams, Ian Davidson, Mark Rance, Axel Boehnke, Katharina Buesch, Sarah Acaster   +5 more
doaj   +1 more source

Increased circulating levels of interleukin-6 induce perturbation in redox-regulated signaling cascades in muscle of dystrophic mice [PDF]

, 2017
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which dystrophin gene is mutated, resulting in dysfunctional or absent dystrophin protein.
Forcina, Laura, Musaro', Antonio, Nicoletti, Carmine, Pelosi, Laura, Scicchitano, Bianca Maria   +4 more
core   +3 more sources

Duchenne Muscular Dystrophy [PDF]

Journal of Medical Genetics, 1994
Since the publication of the first edition of this book in 1987, the identification of the gene responsible for Duchenne muscular dys trophy and the characterization of the missing protein product, dystrophin, have revolutionized research in the field and led to a better understanding of this devastating genetic disease.
openaire   +4 more sources