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- W2952704814 abstract "Introduction: Genetic neuromuscular diseases (NMDs) constitute a heterogeneous group of rare conditions, including some of the most disabling conditions in childhood. Recently, advanced technologies have greatly expanded preclinical and clinical research, and specific therapies have been developed.Area covered: We provide an overview of novel pharmacological approaches to the main NMDs, including Duchenne muscular dystrophy (DMD), spina muscular atrophy (SMA), X-linked myotubular myopathy, Pompe disease (PD), and myotonic dystrophy type 1, with attention to both achievements and unresolved therapeutic challenges. We conducted a selected review of relevant publications in the last five years identified through PubMed and Scopus. Additional information was derived from the website of clinicaltrials.gov and from the authors’ direct knowledge of research activities.Expert Opinion: For the first time, targeted therapies have received conditional regulatory approval and have been introduced into clinical care: enzyme replacement therapy for PD, gene expression modulation for DMD and SMA, and gene therapy for SMA. Though not curative, these treatments can improve functioning and increase survival. Issues still to be addressed include: early recognition, definition of new emerging phenotypes, development of more sensitive outcome measures, long-term risk-benefit estimates, high costs sustainability, and criteria for therapy initiation and discontinuation." @default.
- W2952704814 created "2019-06-27" @default.
- W2952704814 creator A5025252739 @default.
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- W2952704814 creator A5074052372 @default.
- W2952704814 creator A5077045386 @default.
- W2952704814 date "2019-07-02" @default.
- W2952704814 modified "2023-09-25" @default.
- W2952704814 title "New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges" @default.
- W2952704814 cites W1212882679 @default.
- W2952704814 cites W1508659364 @default.
- W2952704814 cites W1533447420 @default.
- W2952704814 cites W1548770948 @default.
- W2952704814 cites W1880114729 @default.
- W2952704814 cites W1980477780 @default.
- W2952704814 cites W1986111537 @default.
- W2952704814 cites W1992972857 @default.
- W2952704814 cites W1997490017 @default.
- W2952704814 cites W2016207006 @default.
- W2952704814 cites W2035041709 @default.
- W2952704814 cites W2036591210 @default.
- W2952704814 cites W2045117117 @default.
- W2952704814 cites W2063701281 @default.
- W2952704814 cites W2065376245 @default.
- W2952704814 cites W2080267978 @default.
- W2952704814 cites W2091858933 @default.
- W2952704814 cites W2094188127 @default.
- W2952704814 cites W2095643828 @default.
- W2952704814 cites W2097465728 @default.
- W2952704814 cites W2099289539 @default.
- W2952704814 cites W2100199292 @default.
- W2952704814 cites W2119820612 @default.
- W2952704814 cites W2137952682 @default.
- W2952704814 cites W2140437800 @default.
- W2952704814 cites W2143197369 @default.
- W2952704814 cites W2152060821 @default.
- W2952704814 cites W2153719074 @default.
- W2952704814 cites W2164481873 @default.
- W2952704814 cites W2167075467 @default.
- W2952704814 cites W2167256464 @default.
- W2952704814 cites W2234725241 @default.
- W2952704814 cites W2280490150 @default.
- W2952704814 cites W2300951885 @default.
- W2952704814 cites W2469663448 @default.
- W2952704814 cites W2502698579 @default.
- W2952704814 cites W2523159899 @default.
- W2952704814 cites W2527008945 @default.
- W2952704814 cites W2560202024 @default.
- W2952704814 cites W2587479628 @default.
- W2952704814 cites W2588329722 @default.
- W2952704814 cites W2589203314 @default.
- W2952704814 cites W2599295022 @default.
- W2952704814 cites W2600519390 @default.
- W2952704814 cites W2609113197 @default.
- W2952704814 cites W2611287306 @default.
- W2952704814 cites W2612305870 @default.
- W2952704814 cites W2616392786 @default.
- W2952704814 cites W2733659072 @default.
- W2952704814 cites W2735778907 @default.
- W2952704814 cites W2746807303 @default.
- W2952704814 cites W2747481219 @default.
- W2952704814 cites W2753832341 @default.
- W2952704814 cites W2759308069 @default.
- W2952704814 cites W2765458529 @default.
- W2952704814 cites W2765483614 @default.
- W2952704814 cites W2765956637 @default.
- W2952704814 cites W2769295220 @default.
- W2952704814 cites W2770254801 @default.
- W2952704814 cites W2770733887 @default.
- W2952704814 cites W2770869187 @default.
- W2952704814 cites W2780045000 @default.
- W2952704814 cites W2784397775 @default.
- W2952704814 cites W2784812244 @default.
- W2952704814 cites W2784992484 @default.
- W2952704814 cites W2789114047 @default.
- W2952704814 cites W2790787230 @default.
- W2952704814 cites W2800737181 @default.
- W2952704814 cites W2801424838 @default.
- W2952704814 cites W2802644471 @default.
- W2952704814 cites W2806197720 @default.
- W2952704814 cites W2808493667 @default.
- W2952704814 cites W2883929619 @default.
- W2952704814 cites W2885893888 @default.
- W2952704814 cites W2889267042 @default.
- W2952704814 cites W2889530657 @default.
- W2952704814 cites W2890315635 @default.
- W2952704814 cites W2890853710 @default.
- W2952704814 cites W2895752535 @default.
- W2952704814 cites W2896569528 @default.
- W2952704814 cites W2900642307 @default.
- W2952704814 cites W2900928307 @default.
- W2952704814 cites W2903654923 @default.
- W2952704814 cites W2904099718 @default.
- W2952704814 cites W2905428362 @default.
- W2952704814 cites W2909219216 @default.