Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics.
about
Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assemblyClinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseasesCentral visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses.Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis.The "CMT rat": peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22.Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.Chemotherapy-induced polyneuropathy. Part I. Pathophysiology.Gene expression profiling studies in regenerating nerves in a mouse model for CMT1X: uninjured Cx32-knockout peripheral nerves display expression profile of injured wild type nerves.Animal models of Charcot-Marie-Tooth disease type 1A.Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.A Review of X-linked Charcot-Marie-Tooth Disease.A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.Animal models for inherited peripheral neuropathies.Onion bulb cells in mice deficient for myelin genes share molecular properties with immature, differentiated non-myelinating, and denervated Schwann cells.Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models.Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease.
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P2860
Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics.
@en
type
label
Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics.
@en
prefLabel
Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics.
@en
P356
P1433
P1476
Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics.
@en
P2093
Ionasescu VV
P2860
P304
P356
10.1002/MUS.880180302
P577
1995-03-01T00:00:00Z