FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2013371339> ?p ?o ?g. }

• W2013371339 endingPage "1119" @default.
• W2013371339 startingPage "1111" @default.
• W2013371339 abstract "<b>Objective:</b> Hereditary spastic paraplegias (HSPs) are very heterogeneous inherited neurodegenerative disorders. Our group recently identified <i>ZFYVE26</i> as the gene responsible for one of the clinical and genetic entities, SPG15. Our aim was to describe its clinical and mutational spectra. <b>Methods:</b> We analyzed all exons of <i>SPG15</i>/<i>ZFYVE26</i> gene by direct sequencing in a series of 60 non-SPG11 HSP subjects with associated mental or MRI abnormalities, including 30 isolated cases. The clinical data were collected through the SPATAX network. <b>Results:</b> We identified 13 novel truncating mutations in <i>ZFYVE26</i>, 12 of which segregated at the homozygous or compound heterozygous states in 8 new SPG15 families while 1 was found at the heterozygous state in a single family. Two of 3 splice site mutations were validated on mRNA of 2 patients. The SPG15 phenotype in 11 affected individuals was characterized by early onset HSP, severe progression of the disease, and mental impairment dominated by cognitive decline. Thin corpus callosum and white matter hyperintensities were MRI hallmarks of the disease in this series. <b>Conclusions:</b> The mutations are truncating, private, and distributed along the entire coding sequence of <i>ZFYVE26</i>, which complicates the analysis of this gene in clinical practice. In our series of patients with hereditary spastic paraplegia–thin corpus callosum, the largest analyzed so far, SPG15 was the second most frequent form (11.5%) after SPG11. Both forms share similar clinical and imaging presentations with very few distinctions, which are, however, insufficient to infer the molecular diagnosis when faced with a single patient." @default.
• W2013371339 created "2016-06-24" @default.
• W2013371339 creator A5006116624 @default.
• W2013371339 creator A5006271840 @default.
• W2013371339 creator A5006492716 @default.
• W2013371339 creator A5009932019 @default.
• W2013371339 creator A5018203617 @default.
• W2013371339 creator A5018531632 @default.
• W2013371339 creator A5024824252 @default.
• W2013371339 creator A5027293126 @default.
• W2013371339 creator A5027489586 @default.
• W2013371339 creator A5032334416 @default.
• W2013371339 creator A5038477612 @default.
• W2013371339 creator A5044423436 @default.
• W2013371339 creator A5049966532 @default.
• W2013371339 creator A5050203564 @default.
• W2013371339 creator A5053457443 @default.
• W2013371339 creator A5056096494 @default.
• W2013371339 creator A5063901385 @default.
• W2013371339 creator A5067313839 @default.
• W2013371339 creator A5071366023 @default.
• W2013371339 creator A5074856368 @default.
• W2013371339 creator A5077096777 @default.
• W2013371339 creator A5078825588 @default.
• W2013371339 creator A5084936482 @default.
• W2013371339 creator A5085252034 @default.
• W2013371339 date "2009-10-05" @default.
• W2013371339 modified "2023-10-07" @default.
• W2013371339 title "SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum" @default.
• W2013371339 cites W1974583546 @default.
• W2013371339 cites W1983685921 @default.
• W2013371339 cites W1985293164 @default.
• W2013371339 cites W1998513777 @default.
• W2013371339 cites W2012485466 @default.
• W2013371339 cites W2022233682 @default.
• W2013371339 cites W2023085442 @default.
• W2013371339 cites W2023767340 @default.
• W2013371339 cites W2026360271 @default.
• W2013371339 cites W2030323195 @default.
• W2013371339 cites W2032835120 @default.
• W2013371339 cites W2037732239 @default.
• W2013371339 cites W2046250120 @default.
• W2013371339 cites W2053761006 @default.
• W2013371339 cites W2059002368 @default.
• W2013371339 cites W2068619217 @default.
• W2013371339 cites W2076571516 @default.
• W2013371339 cites W2083692802 @default.
• W2013371339 cites W2117733752 @default.
• W2013371339 cites W2124744178 @default.
• W2013371339 cites W2125822805 @default.
• W2013371339 cites W2147471451 @default.
• W2013371339 cites W2160288595 @default.
• W2013371339 cites W2165668267 @default.
• W2013371339 cites W2330036818 @default.
• W2013371339 doi "https://doi.org/10.1212/wnl.0b013e3181bacf59" @default.
• W2013371339 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19805727" @default.
• W2013371339 hasPublicationYear "2009" @default.
• W2013371339 type Work @default.
• W2013371339 sameAs 2013371339 @default.
• W2013371339 citedByCount "82" @default.
• W2013371339 countsByYear W20133713392012 @default.
• W2013371339 countsByYear W20133713392013 @default.
• W2013371339 countsByYear W20133713392014 @default.
• W2013371339 countsByYear W20133713392015 @default.
• W2013371339 countsByYear W20133713392016 @default.
• W2013371339 countsByYear W20133713392017 @default.
• W2013371339 countsByYear W20133713392018 @default.
• W2013371339 countsByYear W20133713392019 @default.
• W2013371339 countsByYear W20133713392020 @default.
• W2013371339 countsByYear W20133713392021 @default.
• W2013371339 countsByYear W20133713392022 @default.
• W2013371339 countsByYear W20133713392023 @default.
• W2013371339 crossrefType "journal-article" @default.
• W2013371339 hasAuthorship W2013371339A5006116624 @default.
• W2013371339 hasAuthorship W2013371339A5006271840 @default.
• W2013371339 hasAuthorship W2013371339A5006492716 @default.
• W2013371339 hasAuthorship W2013371339A5009932019 @default.
• W2013371339 hasAuthorship W2013371339A5018203617 @default.
• W2013371339 hasAuthorship W2013371339A5018531632 @default.
• W2013371339 hasAuthorship W2013371339A5024824252 @default.
• W2013371339 hasAuthorship W2013371339A5027293126 @default.
• W2013371339 hasAuthorship W2013371339A5027489586 @default.
• W2013371339 hasAuthorship W2013371339A5032334416 @default.
• W2013371339 hasAuthorship W2013371339A5038477612 @default.
• W2013371339 hasAuthorship W2013371339A5044423436 @default.
• W2013371339 hasAuthorship W2013371339A5049966532 @default.
• W2013371339 hasAuthorship W2013371339A5050203564 @default.
• W2013371339 hasAuthorship W2013371339A5053457443 @default.
• W2013371339 hasAuthorship W2013371339A5056096494 @default.
• W2013371339 hasAuthorship W2013371339A5063901385 @default.
• W2013371339 hasAuthorship W2013371339A5067313839 @default.
• W2013371339 hasAuthorship W2013371339A5071366023 @default.
• W2013371339 hasAuthorship W2013371339A5074856368 @default.
• W2013371339 hasAuthorship W2013371339A5077096777 @default.
• W2013371339 hasAuthorship W2013371339A5078825588 @default.
• W2013371339 hasAuthorship W2013371339A5084936482 @default.
• W2013371339 hasAuthorship W2013371339A5085252034 @default.
• W2013371339 hasConcept C104317684 @default.

• next