Matches in SemOpenAlex for { <https://semopenalex.org/work/W2367730753> ?p ?o ?g. }
Showing items 1 to 57 of
57
with 100 items per page.
- W2367730753 abstract "Objective Phenotype and genotype of 26 Chinese patients were analyzed in this study,which is helpful for the molecular diagnosis and genetic counseling in China.Methods Clinical diagnosis of infantile neuroaxonal dystrophy(INAD) was based on the criteria proposed.Patients were followed up from 10 months to 8 years since their first visit to evaluate the progression of motor and cognitive functions.Motor function was classified on Chinese version of Gross Motor Function Classification System(GMFCS).Mutations and copy number variations in PLA2G6 were detected by DNA sequencing and high-density oligonucleotide-microarray-based comparative genomic Hybridization(aCGH),respectively.Results Twenty-six patients were clinically diagnosed from Sep.2003 to Aug.2011.1.Clinical features were that almost all individuals were free of symptoms at birth and achieved normal developmental milestones before disease onset.The average age at onset was 1 year and 3 months.All patients presented with rapid motor and cognitive regression.Severe motor function impairments were shown in most patients at their first visit,with the average disease course 1.41 years.GMFCS Ⅴ was found in 11 cases,GMFCS Ⅳ in 12 cases,GMFCS Ⅲ in 1 case,and GMFCS Ⅱ in 2 cases.Babinski signs in physical examination,cerebellar atrophy shown in brain MRI and denervation in the electromyography were found in most of the patients.Twenty-three patients were followed up,with the average disease course 3.88 years,2 boys died from infection.The remaining 21 patients suffered from severe motor impairments,with GMFCS V in 18 cases.2.Genotype: PLA2G6 mutations were detected in 23 individuals by DNA sequencing,24 mutations were identified,with 12 novel mutations.In 7 patients,mutation was found only in 1 allele.Copy number variation of PLA2G6 was not detected in any patients either with mutation in only 1 allele or without mutations.Conclusions This is an important largest report on INAD in China.The 12 novel mutations expan-ded the PLA2G6 mutation spectrum.The research will enhance understanding of pediatrician to this rare disease and be helpful for the genetic counseling and prenatal diagnosis in China." @default.
- W2367730753 created "2016-06-24" @default.
- W2367730753 creator A5035914897 @default.
- W2367730753 date "2012-01-01" @default.
- W2367730753 modified "2023-09-26" @default.
- W2367730753 title "Follow-Up Study and Genetic Analysis of Chinese Patients with Infantile Neuroaxonal Dystrophy" @default.
- W2367730753 hasPublicationYear "2012" @default.
- W2367730753 type Work @default.
- W2367730753 sameAs 2367730753 @default.
- W2367730753 citedByCount "0" @default.
- W2367730753 crossrefType "journal-article" @default.
- W2367730753 hasAuthorship W2367730753A5035914897 @default.
- W2367730753 hasConcept C126322002 @default.
- W2367730753 hasConcept C141071460 @default.
- W2367730753 hasConcept C1862650 @default.
- W2367730753 hasConcept C187212893 @default.
- W2367730753 hasConcept C2776659555 @default.
- W2367730753 hasConcept C2779421357 @default.
- W2367730753 hasConcept C2780168130 @default.
- W2367730753 hasConcept C527108885 @default.
- W2367730753 hasConcept C71924100 @default.
- W2367730753 hasConceptScore W2367730753C126322002 @default.
- W2367730753 hasConceptScore W2367730753C141071460 @default.
- W2367730753 hasConceptScore W2367730753C1862650 @default.
- W2367730753 hasConceptScore W2367730753C187212893 @default.
- W2367730753 hasConceptScore W2367730753C2776659555 @default.
- W2367730753 hasConceptScore W2367730753C2779421357 @default.
- W2367730753 hasConceptScore W2367730753C2780168130 @default.
- W2367730753 hasConceptScore W2367730753C527108885 @default.
- W2367730753 hasConceptScore W2367730753C71924100 @default.
- W2367730753 hasLocation W23677307531 @default.
- W2367730753 hasOpenAccess W2367730753 @default.
- W2367730753 hasPrimaryLocation W23677307531 @default.
- W2367730753 hasRelatedWork W1973593564 @default.
- W2367730753 hasRelatedWork W1986499593 @default.
- W2367730753 hasRelatedWork W1990288805 @default.
- W2367730753 hasRelatedWork W2026564815 @default.
- W2367730753 hasRelatedWork W2037240271 @default.
- W2367730753 hasRelatedWork W2038970734 @default.
- W2367730753 hasRelatedWork W2135704574 @default.
- W2367730753 hasRelatedWork W2225283920 @default.
- W2367730753 hasRelatedWork W2377107030 @default.
- W2367730753 hasRelatedWork W2418118925 @default.
- W2367730753 hasRelatedWork W2542564422 @default.
- W2367730753 hasRelatedWork W2743494805 @default.
- W2367730753 hasRelatedWork W2885330026 @default.
- W2367730753 hasRelatedWork W2887895967 @default.
- W2367730753 hasRelatedWork W2942553675 @default.
- W2367730753 hasRelatedWork W2945443432 @default.
- W2367730753 hasRelatedWork W2966502250 @default.
- W2367730753 hasRelatedWork W3048880134 @default.
- W2367730753 hasRelatedWork W3132241460 @default.
- W2367730753 hasRelatedWork W3201701186 @default.
- W2367730753 isParatext "false" @default.
- W2367730753 isRetracted "false" @default.
- W2367730753 magId "2367730753" @default.
- W2367730753 workType "article" @default.