Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia
about
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientClassification, diagnosis and potential mechanisms in pontocerebellar hypoplasiaMitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesA deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonismHuman CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionCLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationMutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndromeExome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathyC6ORF66 is an assembly factor of mitochondrial complex IMutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial diseaseMutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeMutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresExome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisMutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationCongenital hypoplasia of the cerebellum: developmental causes and behavioral consequencesGARS axonopathy: not every neuron's cup of tRNAJoubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutationAn ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathyCerebellar development and diseaseClinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvementRegulation of protein homeostasis in neurodegenerative diseases: the role of coding and non-coding genesMitochondrial disease in childhood: nuclear encodedCharcot-Marie-Tooth disease and intracellular trafficEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseCCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic ciliaX-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner.LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defectsInfantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.Biochemical diagnosis of mitochondrial disordersMutations in RARS cause hypomyelinationMutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansHistorical perspective on mitochondrial medicineThe Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain.The crystal structure of human GlnRS provides basis for the development of neurological disorders.Pontocerebellar hypoplasia.The genetics of cerebellar malformationsLethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.Novel approaches to studying the genetic basis of cerebellar development
P2860
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P2860
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia
description
2007 nî lūn-bûn
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2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
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2007年学术文章
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2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
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2007年學術文章
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name
Deleterious mutation in the mi ...... ith pontocerebellar hypoplasia
@ast
Deleterious mutation in the mi ...... ith pontocerebellar hypoplasia
@en
type
label
Deleterious mutation in the mi ...... ith pontocerebellar hypoplasia
@ast
Deleterious mutation in the mi ...... ith pontocerebellar hypoplasia
@en
prefLabel
Deleterious mutation in the mi ...... ith pontocerebellar hypoplasia
@ast
Deleterious mutation in the mi ...... ith pontocerebellar hypoplasia
@en
P2093
P2860
P50
P356
P1476
Deleterious mutation in the mi ...... ith pontocerebellar hypoplasia
@en
P2093
Avraham Shaag
John Moshe Gomori
Olga Kolesnikova
Orly Elpeleg
Tom Einbinder
P2860
P304
P356
10.1086/521227
P407
P577
2007-08-24T00:00:00Z