FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2136428721> ?p ?o ?g. }

• W2136428721 endingPage "263" @default.
• W2136428721 startingPage "257" @default.
• W2136428721 abstract "During the past 2 years, considerable progress in the field of four and a half LIM domain protein 1 (FHL1)-related myopathies has led to the identification of a growing number of FHL1 mutations. This genetic progress has uncovered crucial pathophysiological concepts, thus redefining clinical phenotypes. Important new characterizations include 4 distinct human myopathies: reducing body myopathy, X-linked myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy, and scapuloperoneal myopathy. Additionally, FHL1 mutations have been discovered in rigid spine syndrome and in a single family with contractures, rigid spine, and cardiomyopathy. In this review, we focus on the clinical phenotypes, which we correlate with the novel genetic and histological findings encountered within FHL1-related myopathies. This correlation will frequently lead to a considerably expanded clinical spectrum associated with a given FHL1 mutation." @default.
• W2136428721 created "2016-06-24" @default.
• W2136428721 creator A5005374186 @default.
• W2136428721 creator A5006938018 @default.
• W2136428721 creator A5039404447 @default.
• W2136428721 creator A5062034849 @default.
• W2136428721 date "2011-12-01" @default.
• W2136428721 modified "2023-10-17" @default.
• W2136428721 title "Reducing Body Myopathy and Other FHL1-Related Muscular Disorders" @default.
• W2136428721 cites W1965632693 @default.
• W2136428721 cites W1975588622 @default.
• W2136428721 cites W1978517724 @default.
• W2136428721 cites W1979140123 @default.
• W2136428721 cites W1980213550 @default.
• W2136428721 cites W1982667162 @default.
• W2136428721 cites W1984936338 @default.
• W2136428721 cites W1990191277 @default.
• W2136428721 cites W1990988819 @default.
• W2136428721 cites W2011183087 @default.
• W2136428721 cites W2011700342 @default.
• W2136428721 cites W2013568439 @default.
• W2136428721 cites W2015801506 @default.
• W2136428721 cites W2028618453 @default.
• W2136428721 cites W2036005390 @default.
• W2136428721 cites W2036849754 @default.
• W2136428721 cites W2038920490 @default.
• W2136428721 cites W2039894371 @default.
• W2136428721 cites W2041343947 @default.
• W2136428721 cites W2051769194 @default.
• W2136428721 cites W2052040529 @default.
• W2136428721 cites W2054352668 @default.
• W2136428721 cites W2056328047 @default.
• W2136428721 cites W2062841006 @default.
• W2136428721 cites W2067403211 @default.
• W2136428721 cites W2068230070 @default.
• W2136428721 cites W2069114432 @default.
• W2136428721 cites W2070127259 @default.
• W2136428721 cites W2073251661 @default.
• W2136428721 cites W2073576262 @default.
• W2136428721 cites W2080142372 @default.
• W2136428721 cites W2085871120 @default.
• W2136428721 cites W2087768937 @default.
• W2136428721 cites W2103269474 @default.
• W2136428721 cites W2113090467 @default.
• W2136428721 cites W2117241378 @default.
• W2136428721 cites W2118057431 @default.
• W2136428721 cites W2127526666 @default.
• W2136428721 cites W2131223814 @default.
• W2136428721 cites W2131685333 @default.
• W2136428721 cites W2132812214 @default.
• W2136428721 cites W2139310030 @default.
• W2136428721 cites W2139805129 @default.
• W2136428721 cites W2158757769 @default.
• W2136428721 cites W2161471585 @default.
• W2136428721 cites W2166821910 @default.
• W2136428721 cites W2171402579 @default.
• W2136428721 cites W2886925590 @default.
• W2136428721 cites W4243812943 @default.
• W2136428721 cites W2091756023 @default.
• W2136428721 doi "https://doi.org/10.1016/j.spen.2011.10.007" @default.
• W2136428721 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22172421" @default.
• W2136428721 hasPublicationYear "2011" @default.
• W2136428721 type Work @default.
• W2136428721 sameAs 2136428721 @default.
• W2136428721 citedByCount "37" @default.
• W2136428721 countsByYear W21364287212012 @default.
• W2136428721 countsByYear W21364287212013 @default.
• W2136428721 countsByYear W21364287212014 @default.
• W2136428721 countsByYear W21364287212015 @default.
• W2136428721 countsByYear W21364287212016 @default.
• W2136428721 countsByYear W21364287212017 @default.
• W2136428721 countsByYear W21364287212018 @default.
• W2136428721 countsByYear W21364287212019 @default.
• W2136428721 countsByYear W21364287212020 @default.
• W2136428721 countsByYear W21364287212021 @default.
• W2136428721 countsByYear W21364287212022 @default.
• W2136428721 crossrefType "journal-article" @default.
• W2136428721 hasAuthorship W2136428721A5005374186 @default.
• W2136428721 hasAuthorship W2136428721A5006938018 @default.
• W2136428721 hasAuthorship W2136428721A5039404447 @default.
• W2136428721 hasAuthorship W2136428721A5062034849 @default.
• W2136428721 hasConcept C104317684 @default.
• W2136428721 hasConcept C105702510 @default.
• W2136428721 hasConcept C126322002 @default.
• W2136428721 hasConcept C127607297 @default.
• W2136428721 hasConcept C127716648 @default.
• W2136428721 hasConcept C142724271 @default.
• W2136428721 hasConcept C2777300911 @default.
• W2136428721 hasConcept C2778558090 @default.
• W2136428721 hasConcept C2779030066 @default.
• W2136428721 hasConcept C2779134260 @default.
• W2136428721 hasConcept C54355233 @default.
• W2136428721 hasConcept C71924100 @default.
• W2136428721 hasConcept C80227256 @default.
• W2136428721 hasConcept C86803240 @default.
• W2136428721 hasConceptScore W2136428721C104317684 @default.
• W2136428721 hasConceptScore W2136428721C105702510 @default.
• W2136428721 hasConceptScore W2136428721C126322002 @default.

• next