(Q47770419)

5 February 2018

review article

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title

Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy. (English)

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5 February 2018

author

Clemens O. Hanemann

series ordinal

1

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5 February 2018

author name string

Müller HW

series ordinal

2

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5 February 2018

publication date

1 July 1998

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5 February 2018

published in

Trends in Neurosciences

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5 February 2018

volume

21

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5 February 2018

page(s)

282-286

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5 February 2018

issue

7

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5 February 2018

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease

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Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

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Connexin mutations in X-linked Charcot-Marie-Tooth disease

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Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

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Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

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7 January 2021

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

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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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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

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Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

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7 January 2021

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

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7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

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7 January 2021

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

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7 January 2021

Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

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7 January 2021

Homozygous expression of a dominant gene for charcot-marie-tooth neuropathy

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7 January 2021

Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies

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7 January 2021

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A

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Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

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7 January 2021

Low affinity NGF receptor expression in CMT1A nerve biopsies of different disease stages.

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7 January 2021

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

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7 January 2021

Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

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7 January 2021

Onion bulb cells in mice deficient for myelin genes share molecular properties with immature, differentiated non-myelinating, and denervated Schwann cells

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7 January 2021

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

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7 January 2021

Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A

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7 January 2021

Studies on the effects of altered PMP22 expression during myelination in vitro

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7 January 2021

Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.

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A transgenic rat model of Charcot-Marie-Tooth disease

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7 January 2021

Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage

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7 January 2021

A growth arrest-specific (gas) gene codes for a membrane protein

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7 January 2021

A myelin protein is encoded by the homologue of a growth arrest-specific gene

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7 January 2021

Differential expression of two mRNA species indicates a dual function of peripheral myelin protein PMP22 in cell growth and myelination.

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7 January 2021

Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A.

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7 January 2021

Influence of elevated expression of rat wild-type PMP22 and its mutant PMP22Trembler on cell growth of NIH3T3 fibroblasts

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7 January 2021

Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth

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7 January 2021

Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development

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7 January 2021

Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs

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7 January 2021

Coexpression of PMP22 gene with MBP and P0 during de novo myelination and nerve repair

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7 January 2021

Cell death in the Schwann cell lineage and its regulation by neuregulin

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7 January 2021

Improved culture methods to expand Schwann cells with altered growth behaviour from CMT1A patients

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7 January 2021

The molecular genetics of myelination: an update

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7 January 2021

Expression and functional roles of neural cell surface molecules and extracellular matrix components during development and regeneration of peripheral nerves

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7 January 2021

Schwann cells: early lineage, regulation of proliferation and control of myelin formation

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7 January 2021

Schwann cell proliferation in developing mouse sciatic nerve. A radioautographic study

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7 January 2021

https://api.crossref.org/works/10.1016%2FS0166-2236%2897%2901222-8

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7 January 2021

The Transcription Factors SCIP and Krox-20 Mark Distinct Stages and Cell Fates in Schwann Cell Differentiation

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https://api.crossref.org/works/10.1016%2FS0166-2236%2897%2901222-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2897%2901222-8

7 January 2021

Mice deficient for the myelin-associated glycoprotein show subtle abnormalities in myelin.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2897%2901222-8

7 January 2021

10.1016/S0166-2236(97)01222-8

Identifiers

DOI

1 reference

5 February 2018

PubMed ID

9683317

1 reference

5 February 2018