Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
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Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.Recent advances in the genetic neuropathies.Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders.Proteolipid protein modulates preservation of peripheral axons and premature death when myelin protein zero is lacking.Phylogenetically Conserved Sequences Around Myelin P0 Stop Codon are Essential for Translational Readthrough to Produce L-MPZ.Impairment of protein degradation and proteasome function in hereditary neuropathies.Blocking bad.The TSC1-mTOR-PLK axis regulates the homeostatic switch from Schwann cell proliferation to myelination in a stage-specific manner.Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B.Treating pediatric neuromuscular disorders: The future is now.
P2860
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P2860
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
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name
Genotype-phenotype characteris ...... by mutations in the MPZ gene.
@ast
Genotype-phenotype characteris ...... by mutations in the MPZ gene.
@en
type
label
Genotype-phenotype characteris ...... by mutations in the MPZ gene.
@ast
Genotype-phenotype characteris ...... by mutations in the MPZ gene.
@en
prefLabel
Genotype-phenotype characteris ...... by mutations in the MPZ gene.
@ast
Genotype-phenotype characteris ...... by mutations in the MPZ gene.
@en
P2093
P2860
P356
P1433
P1476
Genotype-phenotype characteris ...... by mutations in the MPZ gene.
@en
P2093
Carly E Siskind
Charlotte J Sumner
Chelsea Bacon
David N Herrmann
Davide Pareyson
Francesco Muntoni
Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC)
John W Day
Joshua Burns
P2860
P304
P356
10.1093/BRAIN/AWV241
P407
P577
2015-08-25T00:00:00Z