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• W2000520189 abstract "Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spinal cord and is caused by mutations of the survival of motor neuron 1 gene SMN1. The severity of spinal muscular atrophy is highly variable and no cure is available at present. Consensus has been reached on several aspects of care, the availability of which can have a substantial effect on prognosis, but controversies remain. The development of standards of care for children with the disorder and the identification of promising treatment strategies have changed the natural history of spinal muscular atrophy, and the prospects are good for further improvements in function, quality of life, and survival. A long-term benefit for patients will be the development of effective interventions (such as antisense oligonucleotides), some of which are in clinical trials. The need to be prepared for clinical trials has been the impetus for a remarkable and unprecedented cooperation between clinicians, scientists, industry, government, and volunteer organisations on an international scale. Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spinal cord and is caused by mutations of the survival of motor neuron 1 gene SMN1. The severity of spinal muscular atrophy is highly variable and no cure is available at present. Consensus has been reached on several aspects of care, the availability of which can have a substantial effect on prognosis, but controversies remain. The development of standards of care for children with the disorder and the identification of promising treatment strategies have changed the natural history of spinal muscular atrophy, and the prospects are good for further improvements in function, quality of life, and survival. A long-term benefit for patients will be the development of effective interventions (such as antisense oligonucleotides), some of which are in clinical trials. The need to be prepared for clinical trials has been the impetus for a remarkable and unprecedented cooperation between clinicians, scientists, industry, government, and volunteer organisations on an international scale." @default.
• W2000520189 created "2016-06-24" @default.
• W2000520189 creator A5042269980 @default.
• W2000520189 creator A5047421271 @default.
• W2000520189 creator A5059742070 @default.
• W2000520189 date "2012-05-01" @default.
• W2000520189 modified "2023-10-11" @default.
• W2000520189 title "Childhood spinal muscular atrophy: controversies and challenges" @default.
• W2000520189 cites W1496452409 @default.
• W2000520189 cites W1912693339 @default.
• W2000520189 cites W1963604250 @default.
• W2000520189 cites W1965978039 @default.
• W2000520189 cites W1971578102 @default.
• W2000520189 cites W1977656377 @default.
• W2000520189 cites W1980466176 @default.
• W2000520189 cites W1980477780 @default.
• W2000520189 cites W1982332636 @default.
• W2000520189 cites W1987757405 @default.
• W2000520189 cites W1989038804 @default.
• W2000520189 cites W1992974743 @default.
• W2000520189 cites W1993148008 @default.
• W2000520189 cites W1994432962 @default.
• W2000520189 cites W2007183994 @default.
• W2000520189 cites W2007222308 @default.
• W2000520189 cites W2007954199 @default.
• W2000520189 cites W2012537991 @default.
• W2000520189 cites W2013363603 @default.
• W2000520189 cites W2022147372 @default.
• W2000520189 cites W2023028623 @default.
• W2000520189 cites W2025080369 @default.
• W2000520189 cites W2032723142 @default.
• W2000520189 cites W2034435537 @default.
• W2000520189 cites W2041122586 @default.
• W2000520189 cites W2041151129 @default.
• W2000520189 cites W2042817923 @default.
• W2000520189 cites W2043355175 @default.
• W2000520189 cites W2046864260 @default.
• W2000520189 cites W2047177399 @default.
• W2000520189 cites W2048181785 @default.
• W2000520189 cites W2048185734 @default.
• W2000520189 cites W2050766204 @default.
• W2000520189 cites W2051438416 @default.
• W2000520189 cites W2053567459 @default.
• W2000520189 cites W2054230423 @default.
• W2000520189 cites W2055793767 @default.
• W2000520189 cites W2060940070 @default.
• W2000520189 cites W2062270769 @default.
• W2000520189 cites W2062548167 @default.
• W2000520189 cites W2069454280 @default.
• W2000520189 cites W2070461993 @default.
• W2000520189 cites W2071346782 @default.
• W2000520189 cites W2074376733 @default.
• W2000520189 cites W2074885480 @default.
• W2000520189 cites W2075256341 @default.
• W2000520189 cites W2075290475 @default.
• W2000520189 cites W2075408827 @default.
• W2000520189 cites W2076732541 @default.
• W2000520189 cites W2077681525 @default.
• W2000520189 cites W2078346470 @default.
• W2000520189 cites W2080200193 @default.
• W2000520189 cites W2080408482 @default.
• W2000520189 cites W2081735313 @default.
• W2000520189 cites W2082131226 @default.
• W2000520189 cites W2087247805 @default.
• W2000520189 cites W2087788993 @default.
• W2000520189 cites W2088708756 @default.
• W2000520189 cites W2089476069 @default.
• W2000520189 cites W2089572723 @default.
• W2000520189 cites W2091434522 @default.
• W2000520189 cites W2093171732 @default.
• W2000520189 cites W2094018070 @default.
• W2000520189 cites W2094108169 @default.
• W2000520189 cites W2094249297 @default.
• W2000520189 cites W2095568662 @default.
• W2000520189 cites W2099156081 @default.
• W2000520189 cites W2105989886 @default.
• W2000520189 cites W2107313349 @default.
• W2000520189 cites W2111564684 @default.
• W2000520189 cites W2113990015 @default.
• W2000520189 cites W2119820612 @default.
• W2000520189 cites W2120770445 @default.
• W2000520189 cites W2121649468 @default.
• W2000520189 cites W2124852855 @default.
• W2000520189 cites W2125953041 @default.
• W2000520189 cites W2131219273 @default.
• W2000520189 cites W2136934201 @default.
• W2000520189 cites W2138002244 @default.
• W2000520189 cites W2138695567 @default.
• W2000520189 cites W2140853061 @default.
• W2000520189 cites W2141961784 @default.
• W2000520189 cites W2142120640 @default.
• W2000520189 cites W2143197369 @default.
• W2000520189 cites W2144274422 @default.
• W2000520189 cites W2145090109 @default.
• W2000520189 cites W2147750068 @default.
• W2000520189 cites W2150501546 @default.
• W2000520189 cites W2158739907 @default.
• W2000520189 cites W2167747644 @default.

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