Publication:
A rare case of juvenile amyotrophic lateral sclerosis

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dc.contributor.coauthorBodur, Muhittin
dc.contributor.coauthorToker, Rabia Tütüncü
dc.contributor.coauthorOkan, Mehmet Sait
dc.contributor.kuauthorBaşak, Ayşe Nazlı
dc.contributor.kuprofileFaculty Member
dc.contributor.researchcenterKoç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM)
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.yokid1512
dc.date.accessioned2024-11-09T12:42:41Z
dc.date.issued2021
dc.description.abstractBackground: amyotrophic lateral sclerosis (ALS) is a chronic motor neuron disease characterised by progressive weakness in striated muscles resulting from the destruction of neuronal cells. The term juvenile ALS (JALS) is used for patients whose symptoms start before 25 years of age. JALS may be sporadic or familial. Case: here, we present a sporadic case of JALS because of its rarity in children. The heterozygous p.Pro525Leu (c.1574C>T) variation was identified in the fused in sarcoma (FUS) gene. Conclusion: the p.Pro525Leu mutation in the FUS gene has been detected in patients with ALS, characterised by early onset and a severely progressive course.
dc.description.fulltextYES
dc.description.indexedbyWoS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.issue3
dc.description.openaccessYES
dc.description.publisherscopeNational
dc.description.sponsoredbyTubitakEuN/A
dc.description.sponsorshipN/A
dc.description.versionPublisher version
dc.description.volume63
dc.formatpdf
dc.identifier.doi10.24953/turkjped.2021.03.017
dc.identifier.embargoNO
dc.identifier.filenameinventorynoIR03035
dc.identifier.issn0041-4301
dc.identifier.linkhttps://doi.org/10.24953/turkjped.2021.03.017
dc.identifier.quartileQ4
dc.identifier.scopus2-s2.0-85109529335
dc.identifier.urihttps://hdl.handle.net/20.500.14288/2321
dc.identifier.wos668350700017
dc.keywordsJuvenile amyotrophic lateral sclerosis
dc.keywordsFUS gene
dc.languageEnglish
dc.publisherTurkish National Pediatric Society
dc.relation.grantnoNA
dc.relation.urihttp://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/9692
dc.sourceTurkish Journal of Pediatrics
dc.subjectPediatrics
dc.titleA rare case of juvenile amyotrophic lateral sclerosis
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.authorid0000-0001-9257-3540
local.contributor.kuauthorBaşak, Ayşe Nazlı

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