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대한임상신경생리학회지 = Korean journal of clinical neurophysiology, v.14 no.2, 2012년, pp.53 - 58
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For the last decades, molecular genetics has achieved great advances that the genes on the list of inherited muscle diseases are piling up. Those diseases of overlapping clinico-pathologic findings are now understood with discrete molecular pathogeneses. We are facing an exciting era that the long-w...
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Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-928.
Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009;461:272-276.
Sheridan C. Gene therapy finds its niche. Nat Biotech 2011;29:121-128.
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;68:99-109.
Van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Eng J Med 2010;362:1396-1406.
Meryon E. On granular and fatty degeneration of the voluntary muscles. Med Chir Trans 1852;35:73-84.1.
Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010;9:77-93.
Petrof BJ, Shrager JB, Stedman HH, Kelly AM, Sweeney HL. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Nat Acad Sci USA 1993;90:3710-3714.
Aartsma-Rus A, Van Deutekom JCT, Fokkema IF, Van Ommen G-JB, Den Dunnen JT. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve 2006;34:135-144.
Aartsma-Rus A. Overview on DMD exon skipping. Methods Mol Biol 2012;867:97-116.
Aartsma-Rus A. Overview on AON design. Methods Mol Biol 2012;867:117-129.
Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003;31:3568-3571.
Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an openlabel, phase 2, dose-escalation study. Lancet 2011;378:595-605.
Goemans NM, Tulinius M, Van den Akker JT, Burm BE, Ekhart PF, Heuvelmans N, et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Eng J Med 2011;364:1513-1522.
Mendell J, Rodio-Klapac L, Sahenk Z, Roush K, Bird L, Lowes L, et al. Results at 48 weeks of a phase IIb extension study of the exon-skipping drug eteplirsen in patients with Duchenne muscular dystrophy. 17th International Congress of the World Muscle Society. Perth, Australia; 2012.
Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar I, Van Deutekom J, Van Ommen G-J, et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat 2009;30:293-299.
Muntoni F. The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009. Neuromuscul Disord 2010;20:355-362.
Eagle M, Baudouin SV, Chandler C, Giddings DR, Bullock R, Bushby K. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord 2002;12:926-929.
Malerba A, Boldrin L, Dickson G. Long-term systemic administration of unconjugated morpholino oligomers for therapeutic expression of dystrophin by exon skipping in skeletal muscle: implications for cardiac muscle integrity. Nucleic Acid Ther 2011;21:293-298.
Townsend D, Yasuda S, Li S, Chamberlain JS, Metzger JM. Emergent dilated cardiomyopathy caused by targeted repair of dystrophic skeletal muscle. Mol Ther 2008;16:832-835.
Moulton HM. In vivo delivery of morpholino oligos by cellpenetrating peptides. Curr Pharm Des 2012;epub.
Shin J-H, Yue Y, Duan D. Recombinant adeno-associated viral vector production and purification. Methods Mol Biol 2012;798:267-284.
Wasala NB, Shin J-H, Duan D. The evolution of heart gene delivery vectors. J Gene Med 2011;13:557-565.
Scott JM, Li S, Harper SQ, Welikson R, Bourque D, DelloRusso C, et al. Viral vectors for gene transfer of micro-, mini-, or full-length dystrophin. Neuromuscul Disord 2002;12:S23-29.
Liu M, Yue Y, Harper SQ, Grange RW, Chamberlain JS, Duan D. Adeno-associated virus-mediated microdystrophin expression protects young mdx muscle from contraction-induced injury. Mol Ther 2005;11:245-256.
Gregorevic P, Allen JM, Minami E, Blankinship MJ, Haraguchi M, Meuse L, et al. rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice. Nat Med 2006;12:787-789.
Shin J-H, Nitahara-Kasahara Y, Hayashita-Kinoh H, Ohshima-Hosoyama S, Kinoshita K, Chiyo T, et al. Improvement of cardiac fibrosis in dystrophic mice by rAAV9-mediated microdystrophin transduction. Gene Ther 2011;18:910-919.
Bostick B, Shin J-H, Yue Y, Wasala NB, Lai Y, Duan D. AAV micro-dystrophin gene therapy alleviates stress-induced cardiac death but not myocardial fibrosis in >21-m-old mdx mice, an end-stage model of Duchenne muscular dystrophy cardiomyopathy. J Mol Cell Cardiol 2012;53:217-222.
Shin J-H, Yue Y, Srivastava A, Smith B, Lai Y, Duan D. A simplified immune suppression scheme leads to persistent microdystrophin expression in duchenne muscular dystrophy dogs. Hum Gene Ther 2012;23:202-209.
Bowles DE, McPhee SWJ, Li C, Gray SJ, Samulski JJ, Camp AS, et al. Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector. Mol Ther 2012;20:443-455.
Vulin A, Barthelemy I, Goyenvalle A, Thibaud J-L, Beley C, Griffith G, et al. Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon skipping. Mol Ther 2012;20:2120-2133.
Odom GL, Gregorevic P, Allen JM, Chamberlain JS. Gene therapy of mdx mice with large truncated dystrophins generated by recombination using rAAV6. Mol Ther 2011;19:36-45.
Bartel MA, Weinstein JR, Schaffer DV. Directed evolution of novel adeno-associated viruses for therapeutic gene delivery. Gene Ther 2012;19:694-700.
Aartsma-Rus A, Singh KHK, Fokkema IFAC, Ginjaar IB, Van Ommen G-J, Den Dunnen JT, et al. Therapeutic exon skipping for dysferlinopathies? Eur J Hum Genet 2010;18:889-894.
Grose WE, Clark KR, Griffin D, Malik V, Shontz KM, Montgomery CL, et al. Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer. PLoS One 2012;7:e39233.
Azakir BA, Di Fulvio S, Salomon S, Brockhoff M, Therrien C, Sinnreich M. Modular dispensability of dysferlin C2 domains reveals rational design for mini-dysferlin molecules. J Biol Chem 2012;287:27629-27636.
Herson S, Hentati F, Rigolet A, Behin A, Romero NB, Leturcq F, et al. A phase I trial of adeno-associated virus serotype 1- ${\gamma}$ -sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. Brain 2012;135:483-492.
Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, et al. Sustained ${\alpha}$ -sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol 2010;68:629-638.
Buj-Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson CR, et al. AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet 2008;17:2132-2143.
Johnson NE, Heatwole CR. Myotonic dystrophy: from bench to bedside. Semin Neurol 2012;32:246-254.
Wheeler TM, Leger AJ, Pandey SK, MacLeod AR, Nakamori M, Cheng SH, et al. Targeting nuclear RNA for in vivo correction of myotonic dystrophy. Nature 2012;488:111-115.
Chanchlani N. Muscular dystrophy patients could live extra 15 years, if care standards implemented. BMJ 2010;340:c3055.
Mingozzi F, High KA. Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges. Nat Rev Genet 2011;12:341-355.
Maguire AM, Simonelli F, Pierce EA, Pugh EN, Mingozzi F, Bennicelli J, et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Eng J Med 2008;358:2240-2248.
Flemming A. Regulatory watch: pioneering gene therapy on brink of approval. Nat Rev Drug Discov 2012;11:664.
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