1 |
Malik V, Rodino-Klapac LR, Viollet L, Wall C, King W, Al-Dahhak R, et al. Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol 2010;67(6):771-80.
DOI
|
2 |
Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007;447(7140):87-91.
DOI
|
3 |
McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, et al. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet 2017;390(10101):1489-98.
DOI
|
4 |
Gregory-Evans CY, Wang X, Wasan KM, Zhao J, Metcalfe AL, Gregory-Evans K. Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects. J Clin Invest 2014;124(1):111-6.
DOI
|
5 |
Kerem E, Konstan MW, De Boeck K, Accurso FJ, Sermet-Gaudelus I, Wilschanski M, et al. Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, pla-cebo-controlled phase 3 trial. Lancet Respir Med 2014;2(7):539-47.
DOI
|
6 |
Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar I, van Deutekom J, van Ommen GJ, et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat. 2009;30(3):293-9.
DOI
|
7 |
Aartsma-Rus A, Singh KH, Fokkema IF, Ginjaar IB, van Ommen GJ, den Dunnen JT, et al. Therapeutic exon skipping for dysferlinopathies? Eur J Hum Genet 2010;18(8):889-94.
DOI
|
8 |
Malcher J, Heidt L, Goyenvalle A, Escobar H, Marg A, Beley C, et al. Exon skipping in a Dysf-missense mutant mouse model. Mol Ther Nucleic Acids 2018;13:198-207.
DOI
|
9 |
Ishikawa K, Weber T, Hajjar RJ. Human cardiac gene therapy. Circ Res 2018;123(5):601-13.
DOI
|
10 |
Ramlogan-Steel CA, Murali A, Andrzejewski S, Dhungel B, Steel JC, Layton CJ. Gene therapy and the adeno-associated virus in the treatment of genetic and acquired ophthalmic diseases in humans: Trials, future directions and safety considerations. Clin Exp Ophthalmol. 2018 Oct 21. doi: 10.1111/ceo.13416. [Epub ahead of print]
DOI
|
11 |
Elverman M, Goddard MA, Mack D, Snyder JM, Lawlor MW, Meng H, et al. Long-term effects of systemic gene therapy in a canine model of myotubular myopathy. Muscle Nerve 2017;56(5):943-53.
DOI
|
12 |
Al-Zaidy S, Pickard AS, Kotha K, Alfano LN, Lowes L, Paul G, et al. Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy. Pediatr Pulmonol 2019;54(2):179-85.
DOI
|
13 |
Wasala NB, Shin JH, Lai Y, Yue Y, Montanaro F, Duan D. Cardiac-specific expression of deltaH2-R15 mini-dystrophin normalized all electrocardiogram abnormalities and the end-diastolic volume in a 23-month-old mouse model of Duchenne dilated cardiomyopathy. Hum Gene Ther 2018;29(7):737-48.
DOI
|
14 |
Shin JH, Pan X, Hakim CH, Yang HT, Yue Y, Zhang K, et al. Microdystrophin ameliorates muscular dystrophy in the canine model of Duchenne muscular dystrophy. Mol Ther 2013;21(4):750-7.
DOI
|
15 |
Pozsgai ER, Griffin DA, Heller KN, Mendell JR, Rodino-Klapac LR. Systemic AAV-mediated beta-sarcoglycan delivery targeting cardiac and skeletal muscle ameliorates histological and functional deficits in LGMD2E Mice. Mol Ther 2017;25(4):855-69.
DOI
|
16 |
Nelson CE, Hakim CH, Ousterout DG, Thakore PI, Moreb EA, Castellanos Rivera RM, et al. In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy. Sciencee 2016;351(6271):403-7.
DOI
|
17 |
Wang Y, Hao L, Wang H, Santostefano K, Thapa A, Cleary J, et al. Therapeutic genome editing for Myotonic Dystrophy type 1 using CRISPR/Cas9. Mol Ther 2018;26(11):2617-30.
DOI
|
18 |
Ryu SM, Koo T, Kim K, Lim K, Baek G, Kim ST, et al. Adenine base editing in mouse embryos and an adult mouse model of Duchenne muscular dystrophy. Nat Biotechnol 2018;36(6):536-9.
DOI
|
19 |
Lopez-Gomez C, Levy RJ, Sanchez-Quintero MJ, Juanola-Falgarona M, Barca E, Garcia-Diaz B, et al. Deoxycytidine and deoxythymidine treatment for Thymidine Kinase 2 Deficiency. Ann Neurol 2017;81(5):641-52.
DOI
|
20 |
Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007;68(2):99-109.
DOI
|
21 |
Le Guiner C, Servais L, Montus M, Larcher T, Fraysse B, Moullec S, et al. Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy. Nat Commun 2017;8:16105.
DOI
|
22 |
Argov Z, Caraco Y, Lau H, Pestronk A, Shieh PB, Skrinar A, et al. Aceneuramic acid extended release administration maintains upper limb muscle strength in a 48-week study of subjects with GNE myopathy: results from a phase 2, randomized, v-controlled study. J Neuromuscul Dis 2016;3(1):49-66.
DOI
|
23 |
Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol 2018;17(3):251-67.
DOI
|