Matches in SemOpenAlex for { <https://semopenalex.org/work/W172360805> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W172360805 endingPage "877" @default.
- W172360805 startingPage "874" @default.
- W172360805 abstract "Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy characterized by a severe course that leads to death in 5–10 years in most patients. Patients present with myoclonic, absence, and generalized tonic-clonic seizures at onset, typically at around age 14–15 years. As the disease progresses, difficulties in speech generation and gait as well as cognitive decline appear. Seizures soon become intractable and, due to a rapidly progressing dementia, patients become severely incapacitated and die. Lafora bodies are the characteristic hallmark and consist of an abnormal, poorly branched, intracellular glucose polymer accumulating in many tissues, including heart, skeletal muscle, liver, and brain. They can be observed on optic microscopy as periodic acid–Schiff-positive (PAS) cytoplasmic inclusions. Lafora bodies thus resemble glycogen with reduced branching, suggesting an alteration in glycogen metabolism as the cause of their accumulation. Since the localization of the first gene for Lafora disease in 1995, major advances have led to a better understanding of the basic mechanisms involved in this adolescent-onset and deadly disease." @default.
- W172360805 created "2016-06-24" @default.
- W172360805 creator A5030371784 @default.
- W172360805 creator A5044622322 @default.
- W172360805 creator A5064315235 @default.
- W172360805 date "2012-07-01" @default.
- W172360805 modified "2023-10-18" @default.
- W172360805 title "Progressive Myoclonus Epilepsy of Lafora" @default.
- W172360805 cites W1584056801 @default.
- W172360805 cites W1966303381 @default.
- W172360805 cites W1998985469 @default.
- W172360805 cites W2016631802 @default.
- W172360805 cites W2017732659 @default.
- W172360805 cites W2024604019 @default.
- W172360805 cites W2049852307 @default.
- W172360805 cites W2057334342 @default.
- W172360805 cites W2093476689 @default.
- W172360805 cites W2102873804 @default.
- W172360805 cites W2104410524 @default.
- W172360805 cites W2108935300 @default.
- W172360805 cites W2126722763 @default.
- W172360805 cites W2131712753 @default.
- W172360805 cites W2137181909 @default.
- W172360805 cites W2140357048 @default.
- W172360805 cites W2145780431 @default.
- W172360805 cites W2149938389 @default.
- W172360805 cites W2153703070 @default.
- W172360805 cites W2171666662 @default.
- W172360805 doi "https://doi.org/10.1093/med/9780199746545.003.0068" @default.
- W172360805 hasPublicationYear "2012" @default.
- W172360805 type Work @default.
- W172360805 sameAs 172360805 @default.
- W172360805 citedByCount "12" @default.
- W172360805 countsByYear W1723608052012 @default.
- W172360805 countsByYear W1723608052013 @default.
- W172360805 countsByYear W1723608052015 @default.
- W172360805 countsByYear W1723608052016 @default.
- W172360805 countsByYear W1723608052020 @default.
- W172360805 countsByYear W1723608052021 @default.
- W172360805 countsByYear W1723608052023 @default.
- W172360805 crossrefType "book-chapter" @default.
- W172360805 hasAuthorship W172360805A5030371784 @default.
- W172360805 hasAuthorship W172360805A5044622322 @default.
- W172360805 hasAuthorship W172360805A5064315235 @default.
- W172360805 hasConcept C11960822 @default.
- W172360805 hasConcept C134018914 @default.
- W172360805 hasConcept C142724271 @default.
- W172360805 hasConcept C169760540 @default.
- W172360805 hasConcept C178666793 @default.
- W172360805 hasConcept C2775859823 @default.
- W172360805 hasConcept C2776538686 @default.
- W172360805 hasConcept C2777280662 @default.
- W172360805 hasConcept C2777499176 @default.
- W172360805 hasConcept C2778186239 @default.
- W172360805 hasConcept C2779134260 @default.
- W172360805 hasConcept C2779483572 @default.
- W172360805 hasConcept C2781467325 @default.
- W172360805 hasConcept C54355233 @default.
- W172360805 hasConcept C71924100 @default.
- W172360805 hasConcept C86803240 @default.
- W172360805 hasConceptScore W172360805C11960822 @default.
- W172360805 hasConceptScore W172360805C134018914 @default.
- W172360805 hasConceptScore W172360805C142724271 @default.
- W172360805 hasConceptScore W172360805C169760540 @default.
- W172360805 hasConceptScore W172360805C178666793 @default.
- W172360805 hasConceptScore W172360805C2775859823 @default.
- W172360805 hasConceptScore W172360805C2776538686 @default.
- W172360805 hasConceptScore W172360805C2777280662 @default.
- W172360805 hasConceptScore W172360805C2777499176 @default.
- W172360805 hasConceptScore W172360805C2778186239 @default.
- W172360805 hasConceptScore W172360805C2779134260 @default.
- W172360805 hasConceptScore W172360805C2779483572 @default.
- W172360805 hasConceptScore W172360805C2781467325 @default.
- W172360805 hasConceptScore W172360805C54355233 @default.
- W172360805 hasConceptScore W172360805C71924100 @default.
- W172360805 hasConceptScore W172360805C86803240 @default.
- W172360805 hasLocation W1723608051 @default.
- W172360805 hasOpenAccess W172360805 @default.
- W172360805 hasPrimaryLocation W1723608051 @default.
- W172360805 hasRelatedWork W1950201440 @default.
- W172360805 hasRelatedWork W2025413914 @default.
- W172360805 hasRelatedWork W2075230398 @default.
- W172360805 hasRelatedWork W2132404459 @default.
- W172360805 hasRelatedWork W2395519994 @default.
- W172360805 hasRelatedWork W2400363811 @default.
- W172360805 hasRelatedWork W2404397891 @default.
- W172360805 hasRelatedWork W2411952483 @default.
- W172360805 hasRelatedWork W2522335563 @default.
- W172360805 hasRelatedWork W2613564444 @default.
- W172360805 isParatext "false" @default.
- W172360805 isRetracted "false" @default.
- W172360805 magId "172360805" @default.
- W172360805 workType "book-chapter" @default.