Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.

Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.

Item
http://www.wikidata.org/entity/Q34336890
Membrane-shaping disorders: a common pathway in axon degenerationA mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth diseaseDynamic transcriptional events in distal sural nerve revealed by transcriptome analysis.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesMutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.TFG-Related Neurologic Disorders: New Insights Into Relationships Between Endoplasmic Reticulum and Neurodegeneration.TFG Promotes Organization of Transitional ER and Efficient Collagen Secretion.Application of variant-calling algorithms for Mendelian disorders: lessons from whole-exome sequencing in Charcot-Marie-Tooth disease.NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients.
P2860

Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.

Item
http://www.wikidata.org/entity/Q34336890
description
2013 nî lūn-bûn
@nan
2013 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Proximal dominant hereditary m ...... utation in the TRK-fused gene.
@ast
Proximal dominant hereditary m ...... utation in the TRK-fused gene.
@en
Proximal dominant hereditary m ...... utation in the TRK-fused gene.
@nl
type
label
Proximal dominant hereditary m ...... utation in the TRK-fused gene.
@ast
Proximal dominant hereditary m ...... utation in the TRK-fused gene.
@en
Proximal dominant hereditary m ...... utation in the TRK-fused gene.
@nl
prefLabel
Proximal dominant hereditary m ...... utation in the TRK-fused gene.
@ast
Proximal dominant hereditary m ...... utation in the TRK-fused gene.
@en
Proximal dominant hereditary m ...... utation in the TRK-fused gene.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Proximal dominant hereditary m ...... utation in the TRK-fused gene.
@en
P2093
P304
P31
P356
10.1001/JAMANEUROL.2013.1250
P407
P433
P478
P50
P577
P698
P921