Matches in SemOpenAlex for { <https://semopenalex.org/work/W2956199904> ?p ?o ?g. }
Showing items 1 to 99 of
99
with 100 items per page.
- W2956199904 endingPage "103726" @default.
- W2956199904 startingPage "103726" @default.
- W2956199904 abstract "GRM1 gene, that is located on 6q24.3, encodes the metabotropic glutamate receptor type 1 (mGluR1), a transmembrane protein highly expressed in cerebellar Purkinje cells. Pathogenic variants in GRM1 have been reported only three times in humans, causing autosomal-recessive cerebellar ataxia with early-onset and intellectual disability or dominant forms of cerebellar ataxia with less severe phenotype in adults. We report a six-year-old boy, born to inbred parents, with an early-onset cerebellar syndrome due to a homozygous autosomal-recessive GRM1 pathogenic variant. In addition to cerebellar ataxia, axial hypotonia and oculomotor signs, he showed a severe and global developmental delay with lack of walking and speech and slight facial dysmorphic features. Brain MRI, performed at 1 year and at 5 years, showed a slowly progressive cerebellar atrophy. A novel homozygous truncating variant in the second exon of GRM1 gene (c.889C>T, p.(Arg297*)), inherited from the heterozygous healthy parents, was found by exome sequencing. Our observation not only emphasizes the central role of mGluR1-mediated signaling in cerebellar function and neurodevelopment but also provides valuable insights into the early clinical signs of recessive ataxia due to GRM1 pathogenic variants that were not reported previously. The difficulties of clinical differential diagnosis between this disease and other forms of congenital ataxia and the unspecific cerebellar atrophy on MRI highlight the importance of large-scale genetic investigations." @default.
- W2956199904 created "2019-07-23" @default.
- W2956199904 creator A5029940812 @default.
- W2956199904 creator A5031452363 @default.
- W2956199904 creator A5047713489 @default.
- W2956199904 creator A5049933907 @default.
- W2956199904 creator A5075536712 @default.
- W2956199904 creator A5076209697 @default.
- W2956199904 creator A5078175894 @default.
- W2956199904 date "2019-10-01" @default.
- W2956199904 modified "2023-10-18" @default.
- W2956199904 title "A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset" @default.
- W2956199904 cites W1893612865 @default.
- W2956199904 cites W1895913202 @default.
- W2956199904 cites W1913636106 @default.
- W2956199904 cites W1945680072 @default.
- W2956199904 cites W1965058020 @default.
- W2956199904 cites W1983956991 @default.
- W2956199904 cites W1994057403 @default.
- W2956199904 cites W1996805443 @default.
- W2956199904 cites W1998239697 @default.
- W2956199904 cites W2001747644 @default.
- W2956199904 cites W2008728387 @default.
- W2956199904 cites W2043529152 @default.
- W2956199904 cites W2057509417 @default.
- W2956199904 cites W2080120821 @default.
- W2956199904 cites W2101347364 @default.
- W2956199904 cites W2104522961 @default.
- W2956199904 cites W2104952179 @default.
- W2956199904 cites W2144506766 @default.
- W2956199904 cites W2159616946 @default.
- W2956199904 cites W2325494665 @default.
- W2956199904 cites W2569679905 @default.
- W2956199904 cites W3160886994 @default.
- W2956199904 cites W4243927287 @default.
- W2956199904 doi "https://doi.org/10.1016/j.ejmg.2019.103726" @default.
- W2956199904 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31319223" @default.
- W2956199904 hasPublicationYear "2019" @default.
- W2956199904 type Work @default.
- W2956199904 sameAs 2956199904 @default.
- W2956199904 citedByCount "6" @default.
- W2956199904 countsByYear W29561999042021 @default.
- W2956199904 countsByYear W29561999042022 @default.
- W2956199904 countsByYear W29561999042023 @default.
- W2956199904 crossrefType "journal-article" @default.
- W2956199904 hasAuthorship W2956199904A5029940812 @default.
- W2956199904 hasAuthorship W2956199904A5031452363 @default.
- W2956199904 hasAuthorship W2956199904A5047713489 @default.
- W2956199904 hasAuthorship W2956199904A5049933907 @default.
- W2956199904 hasAuthorship W2956199904A5075536712 @default.
- W2956199904 hasAuthorship W2956199904A5076209697 @default.
- W2956199904 hasAuthorship W2956199904A5078175894 @default.
- W2956199904 hasBestOaLocation W29561999041 @default.
- W2956199904 hasConcept C142724271 @default.
- W2956199904 hasConcept C169760540 @default.
- W2956199904 hasConcept C2779500118 @default.
- W2956199904 hasConcept C2779546488 @default.
- W2956199904 hasConcept C2779652256 @default.
- W2956199904 hasConcept C2780148635 @default.
- W2956199904 hasConcept C2780906641 @default.
- W2956199904 hasConcept C54355233 @default.
- W2956199904 hasConcept C71924100 @default.
- W2956199904 hasConcept C86803240 @default.
- W2956199904 hasConceptScore W2956199904C142724271 @default.
- W2956199904 hasConceptScore W2956199904C169760540 @default.
- W2956199904 hasConceptScore W2956199904C2779500118 @default.
- W2956199904 hasConceptScore W2956199904C2779546488 @default.
- W2956199904 hasConceptScore W2956199904C2779652256 @default.
- W2956199904 hasConceptScore W2956199904C2780148635 @default.
- W2956199904 hasConceptScore W2956199904C2780906641 @default.
- W2956199904 hasConceptScore W2956199904C54355233 @default.
- W2956199904 hasConceptScore W2956199904C71924100 @default.
- W2956199904 hasConceptScore W2956199904C86803240 @default.
- W2956199904 hasFunder F4320326804 @default.
- W2956199904 hasIssue "10" @default.
- W2956199904 hasLocation W29561999041 @default.
- W2956199904 hasLocation W29561999042 @default.
- W2956199904 hasLocation W29561999043 @default.
- W2956199904 hasLocation W29561999044 @default.
- W2956199904 hasLocation W29561999045 @default.
- W2956199904 hasOpenAccess W2956199904 @default.
- W2956199904 hasPrimaryLocation W29561999041 @default.
- W2956199904 hasRelatedWork W2019983375 @default.
- W2956199904 hasRelatedWork W2033545352 @default.
- W2956199904 hasRelatedWork W2088525571 @default.
- W2956199904 hasRelatedWork W2187620060 @default.
- W2956199904 hasRelatedWork W2402174938 @default.
- W2956199904 hasRelatedWork W2485025764 @default.
- W2956199904 hasRelatedWork W4226044296 @default.
- W2956199904 hasRelatedWork W4293738682 @default.
- W2956199904 hasRelatedWork W4383371739 @default.
- W2956199904 hasRelatedWork W4385969558 @default.
- W2956199904 hasVolume "62" @default.
- W2956199904 isParatext "false" @default.
- W2956199904 isRetracted "false" @default.
- W2956199904 magId "2956199904" @default.
- W2956199904 workType "article" @default.