The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication
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Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsAscorbic acid for the treatment of Charcot-Marie-Tooth diseaseTreatment for Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 geneDeletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1BDejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) geneDominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-LomMapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathiesA frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyArray comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3Charcot-Marie-Tooth disease and intracellular trafficDe novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked diseaseHaplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.Mouse homologues of human hereditary disease.Charcot-Marie-Tooth disease: lessons in genetic mechanisms.Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descentA molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.Molecular mechanisms for CMT1A duplication and HNPP deletion.Molecular anatomy and genetics of myelin proteins in the peripheral nervous systemThe 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.Characteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus.A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis.Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.Copy number variation upstream of PMP22 in Charcot-Marie-Tooth diseaseCNS myelination and PLP gene dosage.Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Genome editing-enabled HTS assays expand drug target pathways for Charcot-Marie-tooth disease.Chromosomal duplications in bacteria, fruit flies, and humansHigh-field (9.4 T) MRI of brain dysmyelination by quantitative mapping of magnetic susceptibility.Copy number variations on chromosome 12q14 in patients with normal tension glaucomaMolecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.
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The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication
description
article
@en
im Juni 1992 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
@nl
наукова стаття, опублікована в червні 1992
@uk
name
The peripheral myelin protein ...... th disease type 1A duplication
@en
The peripheral myelin protein ...... th disease type 1A duplication
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type
label
The peripheral myelin protein ...... th disease type 1A duplication
@en
The peripheral myelin protein ...... th disease type 1A duplication
@nl
prefLabel
The peripheral myelin protein ...... th disease type 1A duplication
@en
The peripheral myelin protein ...... th disease type 1A duplication
@nl
P2093
P2860
P356
P1433
P1476
The peripheral myelin protein ...... th disease type 1A duplication
@en
P2093
B.W. Nieuwenhuijsen
C. Van Broeckhoven
C.O. Hanemann
G-J.B. van Ommen
H.W. Müller
J-J. Martin
J.M. Vance
K. Ben Othman
P2860
P2888
P304
P356
10.1038/NG0692-171
P407
P577
1992-06-01T00:00:00Z