Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
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Charcot-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.Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patientsMapping 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 polyneuropathyNeuro-glial interactions at the nodes of Ranvier: implication in health and diseasesDe novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)Subunit composition of Kv1 channels in human CNSSIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutationsRetroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growthAssociation of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseasesThe molecular basis of genetic dominanceA unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.Charcot-Marie-Tooth disease: lessons in genetic mechanisms.Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease.Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.Poly(ADP-ribosylation) is present in murine sciatic nerve fibers and is altered in a Charcot-Marie-Tooth-1E neurodegenerative model.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 descentInvestigation of peripheral neuropathyIntroduction to the Third International Symposium on Charcot-Marie-Tooth disorders.Overview of Charcot-Marie-Tooth disease type 1A.Molecular mechanisms for CMT1A duplication and HNPP deletion.The anatomy and cell biology of peripheral myelin protein-22.Transgenic mouse models of CMT1A and HNPP.The "CMT rat": peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22.Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal.Human nerve pathology caused by different mutational mechanisms of the PMP22 gene.Changes of statistical structural fluctuations unveils an early compacted degraded stage of PNS myelin.Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Molecular anatomy and genetics of myelin proteins in the peripheral nervous systemDifferential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.Characteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus.Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.The PMP22 gene and its related diseases.
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P2860
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
description
im Dezember 1992 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 1992
@uk
name
Identical point mutations of P ...... ot-Marie-Tooth disease type 1A
@en
Identical point mutations of P ...... ot-Marie-Tooth disease type 1A
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type
label
Identical point mutations of P ...... ot-Marie-Tooth disease type 1A
@en
Identical point mutations of P ...... ot-Marie-Tooth disease type 1A
@nl
prefLabel
Identical point mutations of P ...... ot-Marie-Tooth disease type 1A
@en
Identical point mutations of P ...... ot-Marie-Tooth disease type 1A
@nl
P2093
P2860
P356
P1433
P1476
Identical point mutations of P ...... ot-Marie-Tooth disease type 1A
@en
P2093
A W Gabreëls-Festen
J E Hoogendijk
L J Valentijn
M de Visser
N H van den Bosch
P A Bolhuis
R A Wolterman
P2860
P2888
P304
P356
10.1038/NG1292-288
P407
P577
1992-12-01T00:00:00Z
P6179
1030313048