Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
about
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeDeficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3Spectrum of combined respiratory chain defects.Mitochondrial transcript maturation and its disordersBiallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeNuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Human aminoacyl-tRNA synthetases in diseases of the nervous system.The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.The role of tRNA synthetases in neurological and neuromuscular disorders.Parent-of-Origin Dependent Gene Expression in Male and Female Schistosome Parasites.Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.
P2860
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P2860
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年學術文章
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2015年學術文章
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name
Two siblings with homozygous p ...... ginyl-tRNA synthetase (NARS2).
@en
Two siblings with homozygous p ...... al asparaginyl-tRNA synthetase
@nl
type
label
Two siblings with homozygous p ...... ginyl-tRNA synthetase (NARS2).
@en
Two siblings with homozygous p ...... al asparaginyl-tRNA synthetase
@nl
prefLabel
Two siblings with homozygous p ...... ginyl-tRNA synthetase (NARS2).
@en
Two siblings with homozygous p ...... al asparaginyl-tRNA synthetase
@nl
P2093
P2860
P50
P356
P1433
P1476
Two siblings with homozygous p ...... ginyl-tRNA synthetase (NARS2).
@en
P2093
Alex Michotte
Arnaud V Vanlander
Björn Menten
Boel De Paepe
Elien De Latter
Lies Vantomme
Linda De Meirleir
Rudy Van Coster
Sara Seneca
P2860
P304
P356
10.1002/HUMU.22728
P577
2015-02-01T00:00:00Z