Matches in SemOpenAlex for { <https://semopenalex.org/work/W2062284611> ?p ?o ?g. }
- W2062284611 endingPage "1159" @default.
- W2062284611 startingPage "1148" @default.
- W2062284611 abstract "The review considers the original and published data on the molecular genetic basis of proximal spinal muscular atrophy (SMA), the most common monogenic neuromuscular disease. The structures of the SMN1 gene and SMN2 pseudogene, mutations distorting the SMN1 function, the structure and functions of the Smn neurotrophic protein, its role in biogenesis of small nuclear ribonucleoproteins (snRNPs), and the principles and problems of molecular diagnosis in SMA are described. Special consideration is given to the current approaches and prospects of gene and cell therapy of SMA, pharmacogenetic methods to correct the SMN2 function, and original results of long-term treatment of SMA patients with valproic acid drugs." @default.
- W2062284611 created "2016-06-24" @default.
- W2062284611 creator A5006055684 @default.
- W2062284611 creator A5021726242 @default.
- W2062284611 creator A5026710412 @default.
- W2062284611 creator A5031012909 @default.
- W2062284611 creator A5032599883 @default.
- W2062284611 creator A5048417425 @default.
- W2062284611 creator A5060369728 @default.
- W2062284611 creator A5086194186 @default.
- W2062284611 creator A5089349735 @default.
- W2062284611 date "2008-10-01" @default.
- W2062284611 modified "2023-10-16" @default.
- W2062284611 title "Molecular genetic basis of proximal spinal muscular atrophy and experience in its pharmaceutical treatment" @default.
- W2062284611 cites W1970035454 @default.
- W2062284611 cites W1975449325 @default.
- W2062284611 cites W1975687045 @default.
- W2062284611 cites W1980477780 @default.
- W2062284611 cites W1981128096 @default.
- W2062284611 cites W1981531251 @default.
- W2062284611 cites W1983254888 @default.
- W2062284611 cites W1984520328 @default.
- W2062284611 cites W1986739119 @default.
- W2062284611 cites W1987892639 @default.
- W2062284611 cites W1989253416 @default.
- W2062284611 cites W1996412713 @default.
- W2062284611 cites W1999877750 @default.
- W2062284611 cites W2005941403 @default.
- W2062284611 cites W2013436649 @default.
- W2062284611 cites W2013834447 @default.
- W2062284611 cites W2021314069 @default.
- W2062284611 cites W2024023934 @default.
- W2062284611 cites W2025080369 @default.
- W2062284611 cites W2031889777 @default.
- W2062284611 cites W2036113905 @default.
- W2062284611 cites W2039297214 @default.
- W2062284611 cites W2039917932 @default.
- W2062284611 cites W2045466909 @default.
- W2062284611 cites W2045606838 @default.
- W2062284611 cites W2045825025 @default.
- W2062284611 cites W2047268435 @default.
- W2062284611 cites W2049558675 @default.
- W2062284611 cites W2051422793 @default.
- W2062284611 cites W2051865966 @default.
- W2062284611 cites W2052064222 @default.
- W2062284611 cites W2054236204 @default.
- W2062284611 cites W2061914660 @default.
- W2062284611 cites W2068087221 @default.
- W2062284611 cites W2068299177 @default.
- W2062284611 cites W2075859954 @default.
- W2062284611 cites W2084774766 @default.
- W2062284611 cites W2086831729 @default.
- W2062284611 cites W2089859070 @default.
- W2062284611 cites W2094108169 @default.
- W2062284611 cites W2099624163 @default.
- W2062284611 cites W2109983978 @default.
- W2062284611 cites W2117062972 @default.
- W2062284611 cites W2122659262 @default.
- W2062284611 cites W2137021233 @default.
- W2062284611 cites W2137971863 @default.
- W2062284611 cites W2139978544 @default.
- W2062284611 cites W2139990859 @default.
- W2062284611 cites W2145042932 @default.
- W2062284611 cites W2147753745 @default.
- W2062284611 cites W2151318390 @default.
- W2062284611 cites W2153279694 @default.
- W2062284611 cites W2153767586 @default.
- W2062284611 cites W2157222682 @default.
- W2062284611 cites W2160700442 @default.
- W2062284611 cites W2165804548 @default.
- W2062284611 cites W2166968954 @default.
- W2062284611 cites W345897622 @default.
- W2062284611 cites W4302065438 @default.
- W2062284611 doi "https://doi.org/10.1134/s1022795408100049" @default.
- W2062284611 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19062530" @default.
- W2062284611 hasPublicationYear "2008" @default.
- W2062284611 type Work @default.
- W2062284611 sameAs 2062284611 @default.
- W2062284611 citedByCount "3" @default.
- W2062284611 countsByYear W20622846112015 @default.
- W2062284611 countsByYear W20622846112018 @default.
- W2062284611 crossrefType "journal-article" @default.
- W2062284611 hasAuthorship W2062284611A5006055684 @default.
- W2062284611 hasAuthorship W2062284611A5021726242 @default.
- W2062284611 hasAuthorship W2062284611A5026710412 @default.
- W2062284611 hasAuthorship W2062284611A5031012909 @default.
- W2062284611 hasAuthorship W2062284611A5032599883 @default.
- W2062284611 hasAuthorship W2062284611A5048417425 @default.
- W2062284611 hasAuthorship W2062284611A5060369728 @default.
- W2062284611 hasAuthorship W2062284611A5086194186 @default.
- W2062284611 hasAuthorship W2062284611A5089349735 @default.
- W2062284611 hasConcept C104317684 @default.
- W2062284611 hasConcept C114614502 @default.
- W2062284611 hasConcept C161921814 @default.
- W2062284611 hasConcept C2778045022 @default.
- W2062284611 hasConcept C2778558090 @default.
- W2062284611 hasConcept C33923547 @default.
- W2062284611 hasConcept C36823959 @default.