Matches in SemOpenAlex for { <https://semopenalex.org/work/W607787024> ?p ?o ?g. }
Showing items 1 to 73 of
73
with 100 items per page.
- W607787024 endingPage "2328" @default.
- W607787024 startingPage "2324" @default.
- W607787024 abstract "The neuronal ceroid lipofuscinoses, collectively called NCLs, are rare and fatal lysosomal storage diseases that mainly affect children. Due to the fact that NCLs are both rare and heterogeneous (mutations in thirteen different genes) significant gaps exist in both preclinical and clinical research. Altogether, these gaps are major hurdles to bring therapies to patients while the need for new therapies is urgent to help them and their families. To define gaps and discuss solutions, a round table discussion involving teams and different stake holders took place during the 14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease) in Cordóba, Argentina. Topics covered by the teams and their leaders (in parentheses) included basic and translational research gaps with regard to large animal models (I. Tammen, D.N. Palmer), human NCL pathology and access to human tissue (J.D. Cooper, H.H. Goebel), rare NCLs (S. Hofman, I. Noher), links of NCLs to other diseases (F.M. Platt), gaps between clinic and clinical trials (H. Adams, A. Schulz), international collaborative efforts working towards a cure (S.E. Mole, H. Band) perspectives on palliative care from patient organizations (M. Frazier, A. West), and issues NCL researchers face when progressing to independent career in academia (M. Bond). Thoughts presented by the team leaders include previously unpublished opinions and information on the lack of understanding of disease pathomechanisms, gene function, assays for drug discovery and target validation, natural history of disease, and biomarkers for monitoring disease progression and treatment effects. This article is not intended to review the NCL literature. It includes personal opinions of the authors and it provides the reader with a summary of gaps discussed and solutions proposed by the teams. This article is part of a Special Issue entitled: Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)." @default.
- W607787024 created "2016-06-24" @default.
- W607787024 creator A5065595170 @default.
- W607787024 creator A5074074116 @default.
- W607787024 date "2015-10-01" @default.
- W607787024 modified "2023-10-16" @default.
- W607787024 title "Bridging NCL research gaps" @default.
- W607787024 cites W1602997642 @default.
- W607787024 cites W1970046799 @default.
- W607787024 cites W1970799201 @default.
- W607787024 cites W1981238350 @default.
- W607787024 cites W1981741723 @default.
- W607787024 cites W1995760643 @default.
- W607787024 cites W2010917530 @default.
- W607787024 cites W2022891079 @default.
- W607787024 cites W2026584056 @default.
- W607787024 cites W2039756269 @default.
- W607787024 cites W2055735666 @default.
- W607787024 cites W2073128198 @default.
- W607787024 cites W2093971989 @default.
- W607787024 cites W2111964251 @default.
- W607787024 cites W2115679330 @default.
- W607787024 cites W2116572569 @default.
- W607787024 cites W2116832944 @default.
- W607787024 cites W2121981334 @default.
- W607787024 cites W2135793292 @default.
- W607787024 cites W2140661454 @default.
- W607787024 cites W2142340866 @default.
- W607787024 cites W2166453547 @default.
- W607787024 doi "https://doi.org/10.1016/j.bbadis.2015.06.003" @default.
- W607787024 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26056946" @default.
- W607787024 hasPublicationYear "2015" @default.
- W607787024 type Work @default.
- W607787024 sameAs 607787024 @default.
- W607787024 citedByCount "3" @default.
- W607787024 countsByYear W6077870242017 @default.
- W607787024 countsByYear W6077870242019 @default.
- W607787024 crossrefType "journal-article" @default.
- W607787024 hasAuthorship W607787024A5065595170 @default.
- W607787024 hasAuthorship W607787024A5074074116 @default.
- W607787024 hasBestOaLocation W6077870241 @default.
- W607787024 hasConcept C142724271 @default.
- W607787024 hasConcept C15744967 @default.
- W607787024 hasConcept C2778230176 @default.
- W607787024 hasConcept C2779134260 @default.
- W607787024 hasConcept C71924100 @default.
- W607787024 hasConceptScore W607787024C142724271 @default.
- W607787024 hasConceptScore W607787024C15744967 @default.
- W607787024 hasConceptScore W607787024C2778230176 @default.
- W607787024 hasConceptScore W607787024C2779134260 @default.
- W607787024 hasConceptScore W607787024C71924100 @default.
- W607787024 hasIssue "10" @default.
- W607787024 hasLocation W6077870241 @default.
- W607787024 hasLocation W6077870242 @default.
- W607787024 hasOpenAccess W607787024 @default.
- W607787024 hasPrimaryLocation W6077870241 @default.
- W607787024 hasRelatedWork W195242591 @default.
- W607787024 hasRelatedWork W2049025190 @default.
- W607787024 hasRelatedWork W2074722929 @default.
- W607787024 hasRelatedWork W2139237874 @default.
- W607787024 hasRelatedWork W2415712694 @default.
- W607787024 hasRelatedWork W2748952813 @default.
- W607787024 hasRelatedWork W2899084033 @default.
- W607787024 hasRelatedWork W3004023850 @default.
- W607787024 hasRelatedWork W3004197971 @default.
- W607787024 hasRelatedWork W3164581752 @default.
- W607787024 hasVolume "1852" @default.
- W607787024 isParatext "false" @default.
- W607787024 isRetracted "false" @default.
- W607787024 magId "607787024" @default.
- W607787024 workType "article" @default.