Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
about
Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophyClinical and genetic characterization of leukoencephalopathies in adults.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.Biallelic Mutations in Mitochondrial Tryptophanyl-tRNA Synthetase Cause Levodopa-Rresponsive Infantile-Onset Parkinsonism.Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.Two Korean siblings with recently described ovarioleukodystrophy related to AARS2 mutations.Alanyl-tRNA Synthetase 2-Related Dementia with Selective Bilateral Frontal Cystic Leukoencephalopathy.Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
P2860
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P2860
Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Analysis of Mutations in AARS2 ...... Spheroids and Pigmented Glia.
@en
Analysis of Mutations in AARS2 ...... Spheroids and Pigmented Glia.
@nl
type
label
Analysis of Mutations in AARS2 ...... Spheroids and Pigmented Glia.
@en
Analysis of Mutations in AARS2 ...... Spheroids and Pigmented Glia.
@nl
prefLabel
Analysis of Mutations in AARS2 ...... Spheroids and Pigmented Glia.
@en
Analysis of Mutations in AARS2 ...... Spheroids and Pigmented Glia.
@nl
P2093
P50
P1433
P1476
Analysis of Mutations in AARS2 ...... l Spheroids and Pigmented Glia
@en
P2093
Anupam Bhattacharjee
David S Lynch
Georgina Burke
Günes Altiokka Uzun
Hasmet Hanagasi
Heather Wilson
Henry Houlden
Indran Davagnanam
Jeremy Chataway
Justin A Kinsella
P304
P356
10.1001/JAMANEUROL.2016.2229
P407
P577
2016-12-01T00:00:00Z