FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2606591036> ?p ?o ?g. }

• W2606591036 endingPage "988" @default.
• W2606591036 startingPage "979" @default.
• W2606591036 abstract "Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the rarity and variability of the disease. The UK Myotonic Dystrophy Patient Registry is a patient self-enrolling online database collecting clinical and genetic information. For this cross-sectional “snapshot” analysis, 556 patients with a confirmed diagnosis of DM1 registered between May 2012 and July 2016 were included. An almost even distribution was seen between genders and a broad range of ages was present from 8 months to 78 years, with the largest proportion between 30 and 59 years. The two most frequent symptoms were fatigue and myotonia, reported by 79 and 78% of patients, respectively. The severity of myotonia correlated with the severity of fatigue as well as mobility impairment, and dysphagia occurred mostly in patients also reporting myotonia. Men reported significantly more frequent severe myotonia, whereas severe fatigue was more frequently reported by women. Cardiac abnormalities were diagnosed in 48% of patients and more than one-third of them needed a cardiac implant. Fifteen percent of patients used a non-invasive ventilation and cataracts were removed in 26% of patients, 65% of which before the age of 50 years. The registry’s primary aim was to facilitate and accelerate clinical research. However, these data also allow us to formulate questions for hypothesis-driven research that may lead to improvements in care and treatment." @default.
• W2606591036 created "2017-04-28" @default.
• W2606591036 creator A5005680420 @default.
• W2606591036 creator A5006117796 @default.
• W2606591036 creator A5006642050 @default.
• W2606591036 creator A5010743628 @default.
• W2606591036 creator A5021711150 @default.
• W2606591036 creator A5023248855 @default.
• W2606591036 creator A5039204991 @default.
• W2606591036 creator A5040800489 @default.
• W2606591036 creator A5050230263 @default.
• W2606591036 creator A5053182763 @default.
• W2606591036 creator A5054814516 @default.
• W2606591036 creator A5062092102 @default.
• W2606591036 creator A5062908694 @default.
• W2606591036 creator A5063220316 @default.
• W2606591036 creator A5065267018 @default.
• W2606591036 creator A5066631526 @default.
• W2606591036 creator A5076598655 @default.
• W2606591036 creator A5080625220 @default.
• W2606591036 creator A5083277369 @default.
• W2606591036 date "2017-04-10" @default.
• W2606591036 modified "2023-09-25" @default.
• W2606591036 title "The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research" @default.
• W2606591036 cites W1507495671 @default.
• W2606591036 cites W1554996798 @default.
• W2606591036 cites W1561110411 @default.
• W2606591036 cites W1576808239 @default.
• W2606591036 cites W1967799655 @default.
• W2606591036 cites W1971507786 @default.
• W2606591036 cites W1972453061 @default.
• W2606591036 cites W1973132908 @default.
• W2606591036 cites W1987762317 @default.
• W2606591036 cites W1989638687 @default.
• W2606591036 cites W1995082220 @default.
• W2606591036 cites W1999143970 @default.
• W2606591036 cites W2008662292 @default.
• W2606591036 cites W2012399697 @default.
• W2606591036 cites W2014651335 @default.
• W2606591036 cites W2016632333 @default.
• W2606591036 cites W2020685420 @default.
• W2606591036 cites W2048359227 @default.
• W2606591036 cites W2052369671 @default.
• W2606591036 cites W2053643033 @default.
• W2606591036 cites W2082464553 @default.
• W2606591036 cites W2083028245 @default.
• W2606591036 cites W2084703547 @default.
• W2606591036 cites W2102986002 @default.
• W2606591036 cites W2104684547 @default.
• W2606591036 cites W2107074165 @default.
• W2606591036 cites W2109436341 @default.
• W2606591036 cites W2131447660 @default.
• W2606591036 cites W2137429240 @default.
• W2606591036 cites W2146786473 @default.
• W2606591036 cites W2166118324 @default.
• W2606591036 cites W2167478409 @default.
• W2606591036 cites W2270577053 @default.
• W2606591036 cites W2347015221 @default.
• W2606591036 cites W2474081316 @default.
• W2606591036 cites W4236894964 @default.
• W2606591036 cites W602247445 @default.
• W2606591036 doi "https://doi.org/10.1007/s00415-017-8483-2" @default.
• W2606591036 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5413526" @default.
• W2606591036 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28397002" @default.
• W2606591036 hasPublicationYear "2017" @default.
• W2606591036 type Work @default.
• W2606591036 sameAs 2606591036 @default.
• W2606591036 citedByCount "21" @default.
• W2606591036 countsByYear W26065910362017 @default.
• W2606591036 countsByYear W26065910362018 @default.
• W2606591036 countsByYear W26065910362019 @default.
• W2606591036 countsByYear W26065910362020 @default.
• W2606591036 countsByYear W26065910362021 @default.
• W2606591036 countsByYear W26065910362022 @default.
• W2606591036 countsByYear W26065910362023 @default.
• W2606591036 crossrefType "journal-article" @default.
• W2606591036 hasAuthorship W2606591036A5005680420 @default.
• W2606591036 hasAuthorship W2606591036A5006117796 @default.
• W2606591036 hasAuthorship W2606591036A5006642050 @default.
• W2606591036 hasAuthorship W2606591036A5010743628 @default.
• W2606591036 hasAuthorship W2606591036A5021711150 @default.
• W2606591036 hasAuthorship W2606591036A5023248855 @default.
• W2606591036 hasAuthorship W2606591036A5039204991 @default.
• W2606591036 hasAuthorship W2606591036A5040800489 @default.
• W2606591036 hasAuthorship W2606591036A5050230263 @default.
• W2606591036 hasAuthorship W2606591036A5053182763 @default.
• W2606591036 hasAuthorship W2606591036A5054814516 @default.
• W2606591036 hasAuthorship W2606591036A5062092102 @default.
• W2606591036 hasAuthorship W2606591036A5062908694 @default.
• W2606591036 hasAuthorship W2606591036A5063220316 @default.
• W2606591036 hasAuthorship W2606591036A5065267018 @default.
• W2606591036 hasAuthorship W2606591036A5066631526 @default.
• W2606591036 hasAuthorship W2606591036A5076598655 @default.
• W2606591036 hasAuthorship W2606591036A5080625220 @default.
• W2606591036 hasAuthorship W2606591036A5083277369 @default.
• W2606591036 hasBestOaLocation W26065910361 @default.
• W2606591036 hasConcept C118487528 @default.
• W2606591036 hasConcept C118552586 @default.

• next