Matches in SemOpenAlex for { <https://semopenalex.org/work/W2604530842> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2604530842 endingPage "28" @default.
- W2604530842 startingPage "24" @default.
- W2604530842 abstract "Mutations in AFG3L2, a gene encoding a subunit of the mitochondrion m-AAA protease, cause spinocerebellar ataxia type 28 and recessive spastic ataxia type 5. Neuroimaging shows cerebellar atrophy.Retrospective review of the patient charts including their clinical evaluation and molecular genetic, neurodiagnostic, and neuroradiological investigations.We describe five members of a large consanguineous family with a severe mitochondrial disease phenotype in the form of regression of the developmental milestones in the first year of life, refractory epilepsy, progressive microcephaly, increased blood lactate, basal ganglia involvement, and premature death. Exome sequencing showed homozygous mutation of the AFG3L2 gene in all individuals: c.1714G>A (p.Ala572Thr).Our findings add to the phenotypic, neuroradiological, genetic, and biochemical spectrum of AFG3L2 mutations." @default.
- W2604530842 created "2017-04-14" @default.
- W2604530842 creator A5025398248 @default.
- W2604530842 creator A5035251403 @default.
- W2604530842 creator A5045829887 @default.
- W2604530842 creator A5061695859 @default.
- W2604530842 creator A5074930440 @default.
- W2604530842 creator A5075303387 @default.
- W2604530842 creator A5083474994 @default.
- W2604530842 date "2017-06-01" @default.
- W2604530842 modified "2023-10-17" @default.
- W2604530842 title "Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement" @default.
- W2604530842 cites W1985343276 @default.
- W2604530842 cites W1989297433 @default.
- W2604530842 cites W1999411713 @default.
- W2604530842 cites W2001716501 @default.
- W2604530842 cites W2005632803 @default.
- W2604530842 cites W2018115681 @default.
- W2604530842 cites W2018728641 @default.
- W2604530842 cites W2027153375 @default.
- W2604530842 cites W2083342405 @default.
- W2604530842 cites W2091454948 @default.
- W2604530842 cites W2092937962 @default.
- W2604530842 cites W2120026031 @default.
- W2604530842 cites W2178074873 @default.
- W2604530842 cites W2221500424 @default.
- W2604530842 cites W2556048034 @default.
- W2604530842 cites W4237991473 @default.
- W2604530842 doi "https://doi.org/10.1016/j.pediatrneurol.2017.03.019" @default.
- W2604530842 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28449981" @default.
- W2604530842 hasPublicationYear "2017" @default.
- W2604530842 type Work @default.
- W2604530842 sameAs 2604530842 @default.
- W2604530842 citedByCount "16" @default.
- W2604530842 countsByYear W26045308422018 @default.
- W2604530842 countsByYear W26045308422019 @default.
- W2604530842 countsByYear W26045308422020 @default.
- W2604530842 countsByYear W26045308422021 @default.
- W2604530842 countsByYear W26045308422022 @default.
- W2604530842 countsByYear W26045308422023 @default.
- W2604530842 crossrefType "journal-article" @default.
- W2604530842 hasAuthorship W2604530842A5025398248 @default.
- W2604530842 hasAuthorship W2604530842A5035251403 @default.
- W2604530842 hasAuthorship W2604530842A5045829887 @default.
- W2604530842 hasAuthorship W2604530842A5061695859 @default.
- W2604530842 hasAuthorship W2604530842A5074930440 @default.
- W2604530842 hasAuthorship W2604530842A5075303387 @default.
- W2604530842 hasAuthorship W2604530842A5083474994 @default.
- W2604530842 hasConcept C104317684 @default.
- W2604530842 hasConcept C142724271 @default.
- W2604530842 hasConcept C169760540 @default.
- W2604530842 hasConcept C2776395126 @default.
- W2604530842 hasConcept C2779012798 @default.
- W2604530842 hasConcept C2779500118 @default.
- W2604530842 hasConcept C2780906641 @default.
- W2604530842 hasConcept C2781172350 @default.
- W2604530842 hasConcept C42219234 @default.
- W2604530842 hasConcept C501734568 @default.
- W2604530842 hasConcept C54355233 @default.
- W2604530842 hasConcept C71924100 @default.
- W2604530842 hasConcept C86803240 @default.
- W2604530842 hasConceptScore W2604530842C104317684 @default.
- W2604530842 hasConceptScore W2604530842C142724271 @default.
- W2604530842 hasConceptScore W2604530842C169760540 @default.
- W2604530842 hasConceptScore W2604530842C2776395126 @default.
- W2604530842 hasConceptScore W2604530842C2779012798 @default.
- W2604530842 hasConceptScore W2604530842C2779500118 @default.
- W2604530842 hasConceptScore W2604530842C2780906641 @default.
- W2604530842 hasConceptScore W2604530842C2781172350 @default.
- W2604530842 hasConceptScore W2604530842C42219234 @default.
- W2604530842 hasConceptScore W2604530842C501734568 @default.
- W2604530842 hasConceptScore W2604530842C54355233 @default.
- W2604530842 hasConceptScore W2604530842C71924100 @default.
- W2604530842 hasConceptScore W2604530842C86803240 @default.
- W2604530842 hasLocation W26045308421 @default.
- W2604530842 hasLocation W26045308422 @default.
- W2604530842 hasOpenAccess W2604530842 @default.
- W2604530842 hasPrimaryLocation W26045308421 @default.
- W2604530842 hasRelatedWork W1998008232 @default.
- W2604530842 hasRelatedWork W2004483055 @default.
- W2604530842 hasRelatedWork W2007133363 @default.
- W2604530842 hasRelatedWork W2024354035 @default.
- W2604530842 hasRelatedWork W2120801365 @default.
- W2604530842 hasRelatedWork W2129507204 @default.
- W2604530842 hasRelatedWork W2166753270 @default.
- W2604530842 hasRelatedWork W2544237657 @default.
- W2604530842 hasRelatedWork W2604530842 @default.
- W2604530842 hasRelatedWork W4200431873 @default.
- W2604530842 hasVolume "71" @default.
- W2604530842 isParatext "false" @default.
- W2604530842 isRetracted "false" @default.
- W2604530842 magId "2604530842" @default.
- W2604530842 workType "article" @default.