FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4312079982> ?p ?o ?g. }

• W4312079982 endingPage "1816" @default.
• W4312079982 startingPage "1800" @default.
• W4312079982 abstract "This article discusses the foundational concepts of genetic treatment strategies employed in neuromuscular medicine, as well as the importance of genetic testing as a requirement for applying gene-based therapy.Gene therapies have become a reality for several neuromuscular disorders. Exon-skipping and (in Europe) ribosomal read-through approaches are currently available to a subset of patients with Duchenne muscular dystrophy. Microdystrophin gene replacement has shown promise and is nearing the final stages of clinical trials. Numerous gene-based therapies for other muscular dystrophies and congenital myopathies are progressing toward approval as well.Muscular dystrophies and congenital myopathies are a heterogenous group of hereditary muscle disorders. Confirming a diagnosis with genetic testing is not only critical for guiding management, but also an actual prerequisite for current and future gene therapies. Recessive loss-of-function or dominant haploinsufficiency disorders may be treated with gene replacement strategies, whereas dominant negative and toxic gain-of-function disorders are best addressed with a variety of knockdown approaches. It is important to recognize that many therapeutics are mutation specific and will only benefit a subset of individuals with a specific disease." @default.
• W4312079982 created "2023-01-04" @default.
• W4312079982 creator A5034312919 @default.
• W4312079982 creator A5036269641 @default.
• W4312079982 date "2022-12-01" @default.
• W4312079982 modified "2023-09-30" @default.
• W4312079982 title "Genetic-Based Treatment Strategies for Muscular Dystrophy and Congenital Myopathies" @default.
• W4312079982 cites W1996764678 @default.
• W4312079982 cites W2025419314 @default.
• W4312079982 cites W2074516170 @default.
• W4312079982 cites W2133177461 @default.
• W4312079982 cites W2146773805 @default.
• W4312079982 cites W2264458339 @default.
• W4312079982 cites W2691085783 @default.
• W4312079982 cites W2741082351 @default.
• W4312079982 cites W2749751278 @default.
• W4312079982 cites W2765253110 @default.
• W4312079982 cites W2774511679 @default.
• W4312079982 cites W2774977786 @default.
• W4312079982 cites W2886388595 @default.
• W4312079982 cites W2911471940 @default.
• W4312079982 cites W2948019101 @default.
• W4312079982 cites W2963513068 @default.
• W4312079982 cites W2965599913 @default.
• W4312079982 cites W2981137429 @default.
• W4312079982 cites W2982077261 @default.
• W4312079982 cites W2993334431 @default.
• W4312079982 cites W3030186330 @default.
• W4312079982 cites W3031070702 @default.
• W4312079982 cites W3034565172 @default.
• W4312079982 cites W3040840440 @default.
• W4312079982 cites W3042571684 @default.
• W4312079982 cites W3128825549 @default.
• W4312079982 cites W3136361381 @default.
• W4312079982 cites W3150397896 @default.
• W4312079982 cites W3180164640 @default.
• W4312079982 cites W3208491814 @default.
• W4312079982 cites W4200590943 @default.
• W4312079982 doi "https://doi.org/10.1212/con.0000000000001203" @default.
• W4312079982 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36537981" @default.
• W4312079982 hasPublicationYear "2022" @default.
• W4312079982 type Work @default.
• W4312079982 citedByCount "0" @default.
• W4312079982 crossrefType "journal-article" @default.
• W4312079982 hasAuthorship W4312079982A5034312919 @default.
• W4312079982 hasAuthorship W4312079982A5036269641 @default.
• W4312079982 hasConcept C104317684 @default.
• W4312079982 hasConcept C111599444 @default.
• W4312079982 hasConcept C126322002 @default.
• W4312079982 hasConcept C127716648 @default.
• W4312079982 hasConcept C142724271 @default.
• W4312079982 hasConcept C2776356578 @default.
• W4312079982 hasConcept C2778943923 @default.
• W4312079982 hasConcept C2779030066 @default.
• W4312079982 hasConcept C2779134260 @default.
• W4312079982 hasConcept C2779768179 @default.
• W4312079982 hasConcept C2780673598 @default.
• W4312079982 hasConcept C2909765735 @default.
• W4312079982 hasConcept C54355233 @default.
• W4312079982 hasConcept C60644358 @default.
• W4312079982 hasConcept C68838962 @default.
• W4312079982 hasConcept C71924100 @default.
• W4312079982 hasConcept C86803240 @default.
• W4312079982 hasConceptScore W4312079982C104317684 @default.
• W4312079982 hasConceptScore W4312079982C111599444 @default.
• W4312079982 hasConceptScore W4312079982C126322002 @default.
• W4312079982 hasConceptScore W4312079982C127716648 @default.
• W4312079982 hasConceptScore W4312079982C142724271 @default.
• W4312079982 hasConceptScore W4312079982C2776356578 @default.
• W4312079982 hasConceptScore W4312079982C2778943923 @default.
• W4312079982 hasConceptScore W4312079982C2779030066 @default.
• W4312079982 hasConceptScore W4312079982C2779134260 @default.
• W4312079982 hasConceptScore W4312079982C2779768179 @default.
• W4312079982 hasConceptScore W4312079982C2780673598 @default.
• W4312079982 hasConceptScore W4312079982C2909765735 @default.
• W4312079982 hasConceptScore W4312079982C54355233 @default.
• W4312079982 hasConceptScore W4312079982C60644358 @default.
• W4312079982 hasConceptScore W4312079982C68838962 @default.
• W4312079982 hasConceptScore W4312079982C71924100 @default.
• W4312079982 hasConceptScore W4312079982C86803240 @default.
• W4312079982 hasIssue "6" @default.
• W4312079982 hasLocation W43120799821 @default.
• W4312079982 hasLocation W43120799822 @default.
• W4312079982 hasOpenAccess W4312079982 @default.
• W4312079982 hasPrimaryLocation W43120799821 @default.
• W4312079982 hasRelatedWork W1964987184 @default.
• W4312079982 hasRelatedWork W2059017658 @default.
• W4312079982 hasRelatedWork W2121735520 @default.
• W4312079982 hasRelatedWork W2594150046 @default.
• W4312079982 hasRelatedWork W2615469091 @default.
• W4312079982 hasRelatedWork W2788314063 @default.
• W4312079982 hasRelatedWork W2990626067 @default.
• W4312079982 hasRelatedWork W3161331845 @default.
• W4312079982 hasRelatedWork W4312079982 @default.
• W4312079982 hasRelatedWork W2062804991 @default.
• W4312079982 hasVolume "28" @default.
• W4312079982 isParatext "false" @default.
• W4312079982 isRetracted "false" @default.

• next