FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2452280> ?p ?o ?g. }

• W2452280 endingPage "1592" @default.
• W2452280 startingPage "1581" @default.
• W2452280 abstract "Inborn errors of brain myelin formation or hypomyelinating leukodystrophies (HLD) represent a heterogeneous group of white matter diseases related to a primitive impairment of oligodendrocytes to produce myelin in the central nervous system (CNS). Cerebral magnetic resonance imaging (MRI) allows an assessment of the myelination pattern. The clinical presentation is related to the degree of hypomyelination and its consequences on axonal functions. When the gene defect interferes with the active infantile phase of myelination, the consequences might be severe, with delayed and loss of psychomotor development, absence of myelin signal on cerebral MRI and of identifiable waves on cerebral evoked potentials, as described by Pelizaeus and Merzbacher (PMD). When the pathophysiological mechanism is less severe, myelin production is maintained, although signs of progressive axonopathy are observed, related to progressive spastic paraplegia (SPG) associated with cognitive or behavioral disturbances. HLDs have been classified according to gene defects or associated signs. The X-linked HDL1 (PMD and SPG2) is related to the gene that controls the production of the major CNS myelin proteins, the proteolipid proteins (PLP). The gap junction protein, gamma 2 gene (GJC2) encoding oligodendrocyte-specific connexin, has been shown to be involved in the autosomal recessive HLD2 (PMLD1 and SPG44)." @default.
• W2452280 created "2016-06-24" @default.
• W2452280 creator A5014385592 @default.
• W2452280 date "2013-01-01" @default.
• W2452280 modified "2023-10-18" @default.
• W2452280 title "Inborn errors of brain myelin formation" @default.
• W2452280 cites W173955245 @default.
• W2452280 cites W1964528572 @default.
• W2452280 cites W1969821478 @default.
• W2452280 cites W1972971242 @default.
• W2452280 cites W1973854653 @default.
• W2452280 cites W1975663488 @default.
• W2452280 cites W1978229435 @default.
• W2452280 cites W1980230515 @default.
• W2452280 cites W1986219475 @default.
• W2452280 cites W1987493014 @default.
• W2452280 cites W1992695202 @default.
• W2452280 cites W2013910899 @default.
• W2452280 cites W2016669072 @default.
• W2452280 cites W2018440098 @default.
• W2452280 cites W2018558728 @default.
• W2452280 cites W2018931766 @default.
• W2452280 cites W2020789006 @default.
• W2452280 cites W2022890157 @default.
• W2452280 cites W2023456872 @default.
• W2452280 cites W2024177687 @default.
• W2452280 cites W2024317507 @default.
• W2452280 cites W2029139168 @default.
• W2452280 cites W2036638493 @default.
• W2452280 cites W2036683529 @default.
• W2452280 cites W2038964409 @default.
• W2452280 cites W2039861170 @default.
• W2452280 cites W2040073285 @default.
• W2452280 cites W2043462758 @default.
• W2452280 cites W2045914157 @default.
• W2452280 cites W2047845962 @default.
• W2452280 cites W2051381362 @default.
• W2452280 cites W2064404171 @default.
• W2452280 cites W2070930678 @default.
• W2452280 cites W2071113961 @default.
• W2452280 cites W2077261567 @default.
• W2452280 cites W2079013447 @default.
• W2452280 cites W2080971043 @default.
• W2452280 cites W2082337589 @default.
• W2452280 cites W2084228866 @default.
• W2452280 cites W2085436982 @default.
• W2452280 cites W2088566177 @default.
• W2452280 cites W2089608572 @default.
• W2452280 cites W2089916678 @default.
• W2452280 cites W2094520476 @default.
• W2452280 cites W2108583379 @default.
• W2452280 cites W2115585096 @default.
• W2452280 cites W2119784192 @default.
• W2452280 cites W2125650861 @default.
• W2452280 cites W2144105310 @default.
• W2452280 cites W2146420213 @default.
• W2452280 cites W2147429782 @default.
• W2452280 cites W2170973988 @default.
• W2452280 doi "https://doi.org/10.1016/b978-0-444-59565-2.00027-7" @default.
• W2452280 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23622380" @default.
• W2452280 hasPublicationYear "2013" @default.
• W2452280 type Work @default.
• W2452280 sameAs 2452280 @default.
• W2452280 citedByCount "8" @default.
• W2452280 countsByYear W24522802015 @default.
• W2452280 countsByYear W24522802016 @default.
• W2452280 countsByYear W24522802017 @default.
• W2452280 countsByYear W24522802018 @default.
• W2452280 countsByYear W24522802022 @default.
• W2452280 countsByYear W24522802023 @default.
• W2452280 crossrefType "book-chapter" @default.
• W2452280 hasAuthorship W2452280A5014385592 @default.
• W2452280 hasConcept C126838900 @default.
• W2452280 hasConcept C142724271 @default.
• W2452280 hasConcept C143409427 @default.
• W2452280 hasConcept C169760540 @default.
• W2452280 hasConcept C2776100374 @default.
• W2452280 hasConcept C2776985911 @default.
• W2452280 hasConcept C2778609137 @default.
• W2452280 hasConcept C2779134260 @default.
• W2452280 hasConcept C2780876595 @default.
• W2452280 hasConcept C2781192897 @default.
• W2452280 hasConcept C529278444 @default.
• W2452280 hasConcept C71924100 @default.
• W2452280 hasConcept C7821365 @default.
• W2452280 hasConcept C86803240 @default.
• W2452280 hasConceptScore W2452280C126838900 @default.
• W2452280 hasConceptScore W2452280C142724271 @default.
• W2452280 hasConceptScore W2452280C143409427 @default.
• W2452280 hasConceptScore W2452280C169760540 @default.
• W2452280 hasConceptScore W2452280C2776100374 @default.
• W2452280 hasConceptScore W2452280C2776985911 @default.
• W2452280 hasConceptScore W2452280C2778609137 @default.
• W2452280 hasConceptScore W2452280C2779134260 @default.
• W2452280 hasConceptScore W2452280C2780876595 @default.
• W2452280 hasConceptScore W2452280C2781192897 @default.
• W2452280 hasConceptScore W2452280C529278444 @default.
• W2452280 hasConceptScore W2452280C71924100 @default.

• next