FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2884818053> ?p ?o ?g. }

• W2884818053 endingPage "1145" @default.
• W2884818053 startingPage "1131" @default.
• W2884818053 abstract "The aim of this report is to present a tentative clinical and pathophysiological approach to diseases affecting the neuronal presynaptic terminal, with a major focus on synaptic vesicles (SVs). Diseases are classified depending on which step of the neurobiology of the SV is predominantly affected: (1) biogenesis of vesicle precursors in the neuronal soma; (2) transport along the axon; (3) vesicle cycle at the presynaptic terminal (exocytosis-endocytosis cycle, with the main purpose of neurotransmitter release). Given that SVs have been defined as individual organelles, we highlight the link between the biological processes disturbed by genetic mutations and the clinical presentation of these disorders. The great majority of diseases may present as epileptic encephalopathies, intellectual disability (syndromic or nonsyndromic) with/without autism spectrum disorder (and other neuropsychiatric symptoms), and movement disorders. These symptoms may overlap and present in patients as a combination of clinical signs that results in the spectrum of the synaptopathies. A small number of diseases may also exhibit neuromuscular signs. In general, SV disorders tend to be severe, early encephalopathies that interfere with neurodevelopment. As a consequence, developmental delay and intellectual disability are constant in almost all the defects described. Considering that some of these diseases might mimic other neurometabolic conditions (and in particular treatable disorders), an initial extensive metabolic workup should always be considered. Further knowledge into pathophysiological mechanisms and biomarkers, as well as descriptions of new presynaptic disorders, will probably take place in the near future." @default.
• W2884818053 created "2018-08-03" @default.
• W2884818053 creator A5041052686 @default.
• W2884818053 creator A5077551140 @default.
• W2884818053 creator A5088234026 @default.
• W2884818053 date "2018-07-18" @default.
• W2884818053 modified "2023-09-25" @default.
• W2884818053 title "Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle" @default.
• W2884818053 cites W1583245386 @default.
• W2884818053 cites W1640182255 @default.
• W2884818053 cites W1824806878 @default.
• W2884818053 cites W1877873625 @default.
• W2884818053 cites W1970741708 @default.
• W2884818053 cites W1972943699 @default.
• W2884818053 cites W1973694001 @default.
• W2884818053 cites W1978042149 @default.
• W2884818053 cites W1978370477 @default.
• W2884818053 cites W1979037838 @default.
• W2884818053 cites W1979217370 @default.
• W2884818053 cites W1989695275 @default.
• W2884818053 cites W2001630263 @default.
• W2884818053 cites W2002038793 @default.
• W2884818053 cites W2011652925 @default.
• W2884818053 cites W2012485466 @default.
• W2884818053 cites W2012531318 @default.
• W2884818053 cites W2017438314 @default.
• W2884818053 cites W2018142234 @default.
• W2884818053 cites W2020460460 @default.
• W2884818053 cites W2022717902 @default.
• W2884818053 cites W2023962370 @default.
• W2884818053 cites W2024392719 @default.
• W2884818053 cites W2028442901 @default.
• W2884818053 cites W2040814741 @default.
• W2884818053 cites W2042069759 @default.
• W2884818053 cites W2043704625 @default.
• W2884818053 cites W2051753710 @default.
• W2884818053 cites W2060384627 @default.
• W2884818053 cites W2063184625 @default.
• W2884818053 cites W2070989820 @default.
• W2884818053 cites W2080325881 @default.
• W2884818053 cites W2092338449 @default.
• W2884818053 cites W2092729353 @default.
• W2884818053 cites W2093077098 @default.
• W2884818053 cites W2098482274 @default.
• W2884818053 cites W2102174960 @default.
• W2884818053 cites W2102875752 @default.
• W2884818053 cites W2104382960 @default.
• W2884818053 cites W2105240236 @default.
• W2884818053 cites W2106349837 @default.
• W2884818053 cites W2108994842 @default.
• W2884818053 cites W2119582096 @default.
• W2884818053 cites W2120282622 @default.
• W2884818053 cites W2121587342 @default.
• W2884818053 cites W2121613431 @default.
• W2884818053 cites W2128748154 @default.
• W2884818053 cites W2136388422 @default.
• W2884818053 cites W2138625258 @default.
• W2884818053 cites W2139369185 @default.
• W2884818053 cites W2139852368 @default.
• W2884818053 cites W2142545021 @default.
• W2884818053 cites W2144101544 @default.
• W2884818053 cites W2144447780 @default.
• W2884818053 cites W2146647216 @default.
• W2884818053 cites W2150472851 @default.
• W2884818053 cites W2156778740 @default.
• W2884818053 cites W2158580250 @default.
• W2884818053 cites W2168257494 @default.
• W2884818053 cites W2168947921 @default.
• W2884818053 cites W2171564321 @default.
• W2884818053 cites W2171799151 @default.
• W2884818053 cites W2173584202 @default.
• W2884818053 cites W2175680907 @default.
• W2884818053 cites W2178070954 @default.
• W2884818053 cites W2179073303 @default.
• W2884818053 cites W2213636741 @default.
• W2884818053 cites W2267938255 @default.
• W2884818053 cites W2296516270 @default.
• W2884818053 cites W2305957222 @default.
• W2884818053 cites W2316228780 @default.
• W2884818053 cites W2328682694 @default.
• W2884818053 cites W2336148333 @default.
• W2884818053 cites W2345760292 @default.
• W2884818053 cites W2552094339 @default.
• W2884818053 cites W2582853980 @default.
• W2884818053 cites W2586149461 @default.
• W2884818053 cites W2609499352 @default.
• W2884818053 cites W2625534955 @default.
• W2884818053 cites W2755041685 @default.
• W2884818053 cites W2780019271 @default.
• W2884818053 cites W2805413502 @default.
• W2884818053 cites W2883178084 @default.
• W2884818053 cites W2884235738 @default.
• W2884818053 cites W4379137853 @default.
• W2884818053 doi "https://doi.org/10.1007/s10545-018-0230-z" @default.
• W2884818053 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30022305" @default.
• W2884818053 hasPublicationYear "2018" @default.
• W2884818053 type Work @default.
• W2884818053 sameAs 2884818053 @default.

• next