Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome (Q28285809)

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R V Lebo

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G Rosoklija

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X S Ding

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R E Lovelace

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N Latov

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A P Hays

Demonstration of Fc gamma receptors on human peripheral nerve fibres

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language of work or name

English

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publication date

1994

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published in

Acta Neuropathologica

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volume

87

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issue

1

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page(s)

91-7

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cites work

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12 December 2020

Sex-linked recessive inheritance in Charcot-Marie-tooth disease with partial clinical manifestations in female carriers

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Peripheral neuropathy associated with immunoglobulin disorders an immunological and ultrastructural study

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Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13

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Myelin Po‐protein, more than just a structural protein?

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Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding

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Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy

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Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

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Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

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Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients

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Recurrent brachial plexus neuropathy

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Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc? receptor gene region

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Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects.

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A phorbol ester-sensitive kinase catalyzes the phosphorylation of P0 glycoprotein in myelin

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Experimental allergic neuritis. Ultrastructure of serum-induced myelin aberrations in peripheral nervous system cultures

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X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

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Solubilization of human peripheral nerve Fc gamma receptors and purification of a functional 40 kDa receptor

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Ehlers-Danlos in association with tomaculous neuropathy

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Childhood peripheral neuropathy with autoantibodies to myelin glycoprotein Po

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Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

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Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

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Developing Myelin in Human Peripheral Nerve

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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

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Immunofluorescence study of patients with neuropathy and IgM M proteins

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Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

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12 December 2020

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

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Tomaculous neuropathy presenting as acute recurrent polyneuropathy

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Congenital hypo- and hypermyelination neuropathy. Two cases

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Charcot-Marie-Tooth neuropathy related to chromosome 1.

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Protein composition of myelin of the peripheral nervous system

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X-linked neuropathy: gene localization with DNA probes

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Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17

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Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

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The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

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Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers

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Globular neuropathy. A disorder of axons and Schwann cells

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Characterization of HNK-1 bearing glycoproteins in human peripheral nerve myelin

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Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons.

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Phosphorylation of P0Glycoprotein in Peripheral Nerve Myelin

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Comparison of the N-linked oligosaccharide structures of the two major human myelin glycoproteins MAG and P0: assessment of the structures bearing the epitope for HNK-1 and human monoclonal immunoglobulin M found in demyelinating neuropathy

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Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

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Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region

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DNA deletion associated with hereditary neuropathy with liability to pressure palsies

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Isolation and analysis of the gene encoding peripheral myelin protein zero

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The sural nerve of the human foetus: electron microscope observations and counts of axons

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Role of myelin Po protein as a homophilic adhesion molecule

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Hereditary motor and sensory neuropathy of demyelinating and remyelinating type in children. Ultrastructural and morphometric studies on sural nerve biopsy specimens from ten sporadic cases

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X-linked dominant charcot-marie-tooth neuropathy with 15 cases in a family genetic linkage study

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Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction.

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Comparison of the N-linked oligosaccharide structures of the two major human myelin glycoproteins MAG and P0: assessment and relative occurrence of oligosaccharide structures by serial lectin affinity chromatography of 14C-glycopeptides

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[Hypermyelination in a case of peripheral neuropathy with benign IgM monoclonal gammopathy]

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An ultrastructural study of experimental demyelination and remyelination. II. Chronic experimental allergic encephalomyelitis in the peripheral nervous system

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12 December 2020

Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1

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12 December 2020