المؤلفون: Duchenne UK, Parent Project Muscular Dystrophy

المصدر: Phase I Clinical Trial of Cell Based Therapy for Duchenne Muscular Dystrophy

المؤلفون: Parent Project Muscular Dystrophy

المساهمون: May Ling Mah, Principal Investigator

المصدر: Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)
Mah ML, Cripe L, Slawinski MK, Al-Zaidy SA, Camino E, Lehman KJ, Jackson JL, Iammarino M, Miller N, Mendell JR, Hor KN. Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing. Int J Cardiol. 2020 Oct 1;316:257-265. doi: 10.1016/j.ijcard.2020.05.052. Epub 2020 May 27.

المؤلفون: Parent Project Muscular Dystrophy

المساهمون: Jerry R. Mendell, Director Center for Gene Therapy

المصدر: Phase I Clinical Intramuscular Gene Transfer of rAAV1.CMV.huFollistatin344 Trial to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis.
Kota J, Handy CR, Haidet AM, Montgomery CL, Eagle A, Rodino-Klapac LR, Tucker D, Shilling CJ, Therlfall WR, Walker CM, Weisbrode SE, Janssen PM, Clark KR, Sahenk Z, Mendell JR, Kaspar BK. Follistatin gene delivery enhances muscle growth and strength in nonhuman primates. Sci Transl Med. 2009 Nov 11;1(6):6ra15. doi: 10.1126/scitranslmed.3000112.
Rodino-Klapac LR, Haidet AM, Kota J, Handy C, Kaspar BK, Mendell JR. Inhibition of myostatin with emphasis on follistatin as a therapy for muscle disease. Muscle Nerve. 2009 Mar;39(3):283-96. doi: 10.1002/mus.21244.
Miller TM, Kim SH, Yamanaka K, Hester M, Umapathi P, Arnson H, Rizo L, Mendell JR, Gage FH, Cleveland DW, Kaspar BK. Gene transfer demonstrates that muscle is not a primary target for non-cell-autonomous toxicity in familial amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 2006 Dec 19;103(51):19546-51. doi: 10.1073/pnas.0609411103. Epub 2006 Dec 12.
Mendell JR, Sahenk Z, Malik V, Gomez AM, Flanigan KM, Lowes LP, Alfano LN, Berry K, Meadows E, Lewis S, Braun L, Shontz K, Rouhana M, Clark KR, Rosales XQ, Al-Zaidy S, Govoni A, Rodino-Klapac LR, Hogan MJ, Kaspar BK. A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy. Mol Ther. 2015 Jan;23(1):192-201. doi: 10.1038/mt.2014.200. Epub 2014 Oct 17.

المؤلفون: Parent Project Muscular Dystrophy

المصدر: The Duchenne Registry: An International, Patient-Report Registry for Individuals With Duchenne and Becker Muscular Dystrophy (Member of TREAT-NMD Neuromuscular Network)
Counterman KJ, Fatovic K, Good DC, Martin AS, Dasgupta S, Anziska Y. Associations Between Self-Reported Behavioral and Learning Concerns and DMD Isoforms in Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2022;9(6):757-764. doi: 10.3233/JND-220821.
Rangel V, Martin AS, Peay HL. DuchenneConnect Registry Report. PLoS Curr. 2012 Feb 29;4:RRN1309. doi: 10.1371/currents.RRN1309.
Wang RT, Silverstein Fadlon CA, Ulm JW, Jankovic I, Eskin A, Lu A, Rangel Miller V, Cantor RM, Li N, Elashoff R, Martin AS, Peay HL, Halnon N, Nelson SF. Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits. PLoS Curr. 2014 Oct 17;6:ecurrents.md.e1e8f2be7c949f9ffe81ec6fca1cce6a. doi: 10.1371/currents.md.e1e8f2be7c949f9ffe81ec6fca1cce6a.
Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barisic N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloglu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Beroud C, Lochmuller H. The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat. 2013 Nov;34(11):1449-57. doi: 10.1002/humu.22390. Epub 2013 Aug 26.
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barisic N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Diaz-Manera J, Gallardo E, Karaduman AA, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Beroud C, Lochmuller H. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17.
Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barisic N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Diaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Beroud C, Verschuuren JJ, Lochmuller H. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.
Wang RT, Barthelemy F, Martin AS, Douine ED, Eskin A, Lucas A, Lavigne J, Peay H, Khanlou N, Sweeney L, Cantor RM, Miceli MC, Nelson SF. DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype. Hum Mutat. 2018 Sep;39(9):1193-1202. doi: 10.1002/humu.23561. Epub 2018 Jul 12.
Cowen L, Mancini M, Martin A, Lucas A, Donovan JM. Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry. BMC Neurol. 2019 May 2;19(1):84. doi: 10.1186/s12883-019-1304-8.
Counterman KJ, Furlong P, Wang RT, Martin AS. Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors. Muscle Nerve. 2020 Jan;61(1):36-43. doi: 10.1002/mus.26720. Epub 2019 Nov 6.
Waldrop MA, Yaou RB, Lucas KK, Martin AS, O'Rourke E; FILNEMUS; Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan KM. Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. J Neuromuscul Dis. 2020;7(3):217-229. doi: 10.3233/JND-200483.

المؤلفون: Parent Project Muscular Dystrophy

المصدر: Functional Muscle Ischemia and PDE5A Inhibition in Duchenne Muscular Dystrophy

المؤلفون: U.S. Department of Education, National Institutes of Health (NIH), United States Department of Defense, Parent Project Muscular Dystrophy

المصدر: Longitudinal Study of the Relationship Between Impairment, Activity Limitation, Participation and Quality of Life in Persons With Confirmed Duchenne Muscular Dystrophy (DMD)
Thangarajh M, Spurney CF, Gordish-Dressman H, Clemens PR, Hoffman EP, McDonald CM, Henricson EK; CINRG Investigators. Neurodevelopmental Needs in Young Boys with Duchenne Muscular Dystrophy (DMD): Observations from the Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study (DNHS). PLoS Curr. 2018 Oct 17;10:ecurrents.md.4cdeb6970e54034db2bc3dfa54b4d987. doi: 10.1371/currents.md.4cdeb6970e54034db2bc3dfa54b4d987.
McDonald CM, Henricson EK, Abresch RT, Duong T, Joyce NC, Hu F, Clemens PR, Hoffman EP, Cnaan A, Gordish-Dressman H; CINRG Investigators. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study. Lancet. 2018 Feb 3;391(10119):451-461. doi: 10.1016/S0140-6736(17)32160-8. Epub 2017 Nov 22.

المؤلفون: American Library Association, Association of Southeastern Research Libraries, Association of Academic Health Sciences Libraries, Association of College and Research Libraries, Association of Research Libraries, Coalition of Open Access Policy Institutions, Creative Commons, Electronic Frontier Foundation, Foundation Fighting Blindness, The MPN Research Foundation, Parent Project Muscular Dystrophy, PeerJ, Public Library of Science, Public Knowledge, Simons Foundation, SPARC

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11213/867

الاتاحة: http://hdl.handle.net/11213/867

المؤلفون: Bateman-House, Alison, Cowley, Kirsten, Fernandez, Vivian, Gilmor, Michelle, Hunt, Cara, Nevoret, Marie-Laure, Ward, Erin, Shah, Lesha D., Smith, Jared B.

المساهمون: Parent Project Muscular Dystrophy

المصدر: Pediatric Neurology ; volume 163, page 46-49 ; ISSN 0887-8994

الاتاحة: https://doi.org/10.1016/j.pediatrneurol.2024.11.001
https://api.elsevier.com/content/article/PII:S0887899424003795?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899424003795?httpAccept=text/plain

المؤلفون: Crossnohere, Norah L., Campoamor, Nicola B., Camino, Eric, Dresnick, Erin, Martschenko, Daphne Oluwaseun, Rodrigues, Viana, Apkon, Susan, Hazlett, Alexis, Mittur, Dhruv, Rodriguez, Priscilla E., Bridges, John F. P., Armstrong, Niki

المساهمون: Parent Project Muscular Dystrophy, Pfizer, Sarepta Therapeutics

المصدر: Orphanet Journal of Rare Diseases ; volume 19, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-024-03209-7
https://link.springer.com/content/pdf/10.1186/s13023-024-03209-7.pdf
https://link.springer.com/article/10.1186/s13023-024-03209-7/fulltext.html

المؤلفون: Muntoni, Francesco, Signorovitch, James, Sajeev, Gautam, Done, Nicolae, Yao, Zhiwen, Goemans, Nathalie, McDonald, Craig, Mercuri, Eugenio, Niks, Erik H., Wong, Brenda, Vandenborne, Krista, Straub, Volker, de Groot, Imelda J. M., Tian, Cuixia, Manzur, Adnan, Dieye, Ibrahima, Lane, Henry, Ward, Susan J., Servais, Laurent

المساهمون: Asakura, Atsushi, Astellas, BioMarin Pharmaceutical, Bristol-Myers Squibb, Catabasis, Edgewise Therapeutics, FibroGen, Italfarmaco SpA, Marathon Pharmaceuticals, NS Pharma, Pfizer, PTC Therapeutics, Roche, Sarepta Therapeutics, Shire, Solid Biosciences, Summit Therapeutics, Vertex Pharmaceuticals, Parent Project Muscular Dystrophy, Charley’s Fund, CureDuchenne, Fonds Spierzieke Kinderen, Avidity Biosciences, Daiichi-Sankyo, Entrada Therapeutics, Ultragenyx

المصدر: PLOS ONE ; volume 19, issue 7, page e0304984 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0304984
https://dx.plos.org/10.1371/journal.pone.0304984

المؤلفون: Potter, Rachael A., Peterson, Ellyn L., Griffin, Danielle, Cooper Olson, Grace, Lewis, Sarah, Cochran, Kyle, Mendell, Jerry R., Rodino-Klapac, Louise R.

المساهمون: Sarepta Therapeutics, Parent Project Muscular Dystrophy

المصدر: Molecular Therapy - Methods & Clinical Development ; volume 32, issue 1, page 101195 ; ISSN 2329-0501

الاتاحة: http://dx.doi.org/10.1016/j.omtm.2024.101195
https://api.elsevier.com/content/article/PII:S2329050124000111?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2329050124000111?httpAccept=text/plain

المؤلفون: Long, Ashlee M., Kwon, Jason M., Lee, GaHyun, Reiser, Nina L., Vaught, Lauren A., O'Brien, Joseph G., Page, Patrick G.T., Hadhazy, Michele, Reynolds, Joseph C., Crosbie, Rachelle H., Demonbreun, Alexis R., McNally, Elizabeth M.

المساهمون: Parent Project Muscular Dystrophy, National Institutes of Health

المصدر: Matrix Biology ; volume 129, page 44-58 ; ISSN 0945-053X

الاتاحة: http://dx.doi.org/10.1016/j.matbio.2024.04.001
https://api.elsevier.com/content/article/PII:S0945053X24000519?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0945053X24000519?httpAccept=text/plain

المؤلفون: Tavakoli, Norma P., Gruber, Dorota, Armstrong, Niki, Chung, Wendy K., Maloney, Breanne, Park, Sunju, Wynn, Julia, Koval‐Burt, Carrie, Verdade, Lorraine, Tegay, David H., Cohen, Lilian L., Shapiro, Natasha, Kennedy, Annie, Noritz, Garey, Ciafaloni, Emma, Weinberger, Barry, Ellington, Marty, Schleien, Charles, Spinazzola, Regina, Sood, Sunil, Brower, Amy, Lloyd‐Puryear, Michele, Caggana, Michele

المساهمون: Parent Project Muscular Dystrophy, PerkinElmer, Pfizer, PTC Therapeutics, Sarepta Therapeutics

المصدر: Annals of Clinical and Translational Neurology ; volume 10, issue 8, page 1383-1396 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.51829
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51829

المؤلفون: Mendell, Jerry R., Sahenk, Zarife, Lehman, Kelly J., Lowes, Linda P., Reash, Natalie F., Iammarino, Megan A., Alfano, Lindsay N., Lewis, Sarah, Church, Kathleen, Shell, Richard, Potter, Rachael A., Griffin, Danielle A., Hogan, Mark, Wang, Shufang, Mason, Stefanie, Darton, Eddie, Rodino‐Klapac, Louise R.

المساهمون: Nationwide Children's Hospital, Parent Project Muscular Dystrophy, Sarepta Therapeutics

المصدر: Muscle & Nerve ; volume 69, issue 1, page 93-98 ; ISSN 0148-639X 1097-4598

الاتاحة: http://dx.doi.org/10.1002/mus.27955
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.27955

المؤلفون: Thangarajh, Mathula, McDermott, Michael P., Guglieri, Michela, Griggs, Robert C.

المساهمون: National Center for Advancing Translational Sciences, Parent Project Muscular Dystrophy, Center for Clinical and Translational Research

المصدر: Annals of Clinical and Translational Neurology ; volume 10, issue 12, page 2285-2296 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.51914
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51914

المؤلفون: Morroni, Jacopo, Benedetti, Anna, Esposito, Lorenza, De Bardi, Marco, Borsellino, Giovanna, Riera, Carles Sanchez, Giordani, Lorenzo, Bouche, Marina, Lozanoska-Ochser, Biliana

المساهمون: Duchenne Parent Project, Parent Project Muscular Dystrophy, Sapienza Università di Roma

المصدر: Stem Cell Research & Therapy ; volume 14, issue 1 ; ISSN 1757-6512

الاتاحة: http://dx.doi.org/10.1186/s13287-023-03492-4
https://link.springer.com/content/pdf/10.1186/s13287-023-03492-4.pdf
https://link.springer.com/article/10.1186/s13287-023-03492-4/fulltext.html

المؤلفون: Zuo, Yuanbojiao, Zhang, Chen, Zhou, Yuan, Li, Haiwen, Xiao, Weidong, Herzog, Roland W., Xu, Jie, Zhang, Jifeng, Chen, Y. Eugene, Han, Renzhi

المساهمون: Parent Project Muscular Dystrophy, National Heart, Lung, and Blood Institute

المصدر: Cell & Bioscience ; volume 13, issue 1 ; ISSN 2045-3701

الاتاحة: http://dx.doi.org/10.1186/s13578-023-01036-0
https://link.springer.com/content/pdf/10.1186/s13578-023-01036-0.pdf
https://link.springer.com/article/10.1186/s13578-023-01036-0/fulltext.html

المساهمون: Parent Project Muscular Dystrophy, New York Academy of Sciences, Astellas Pharma US, Johnson and Johnson, NYU Grossman School of Medicine

المصدر: Med ; volume 4, issue 1, page 5-7 ; ISSN 2666-6340

الاتاحة: http://dx.doi.org/10.1016/j.medj.2022.12.006
https://api.elsevier.com/content/article/PII:S2666634022005220?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666634022005220?httpAccept=text/plain

المؤلفون: Gruber, Dorota, Lloyd‐Puryear, Michele, Armstrong, Niki, Scavina, Mena, Tavakoli, Norma P., Brower, Amy M., Caggana, Michele, Chung, Wendy K.

المساهمون: Sarepta Therapeutics, PTC Therapeutics, PerkinElmer, Parent Project Muscular Dystrophy

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 190, issue 2, page 197-205 ; ISSN 1552-4868 1552-4876

الاتاحة: http://dx.doi.org/10.1002/ajmg.c.32000
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.32000
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.c.32000

المؤلفون: Park, Sunju, Maloney, Breanne, Caggana, Michele, Tavakoli, Norma P.

المساهمون: Sarepta Therapeutics, PTC Therapeutics, Parent Project Muscular Dystrophy

المصدر: Muscle & Nerve ; volume 65, issue 6, page 652-658 ; ISSN 0148-639X 1097-4598

الاتاحة: http://dx.doi.org/10.1002/mus.27533
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.27533
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mus.27533