(Q77110246)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11690618%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

review article

1 reference

title

Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11690618%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

author name string

P Young

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11690618%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

U Suter

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11690618%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

publication date

1 October 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11690618%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11690618%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

issue

2-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11690618%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

page(s)

213-221

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11690618%20AND%20SRC:MED&resulttype=core&format=json

A controlled trial of recombinant methionyl human BDNF in ALS: The BDNF Study Group (Phase III)

2 December 2019

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7 January 2021

Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease

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7 January 2021

Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy

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7 January 2021

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

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7 January 2021

Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele

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7 January 2021

Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32

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7 January 2021

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

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7 January 2021

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

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7 January 2021

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

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7 January 2021

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

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7 January 2021

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

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7 January 2021

Exposure at the cell surface is required for gas3/PMP22 To regulate both cell death and cell spreading: implication for the Charcot-Marie-Tooth type 1A and Dejerine-Sottas diseases.

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7 January 2021

Rho-dependent regulation of cell spreading by the tetraspan membrane protein Gas3/PMP22.

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7 January 2021

Connections with connexins: the molecular basis of direct intercellular signaling

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7 January 2021

Localization and functional roles of PMP22 in peripheral nerves of P0-deficient mice

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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

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies

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7 January 2021

PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells

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7 January 2021

Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.

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7 January 2021

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

1 reference

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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

Human nerve pathology caused by different mutational mechanisms of the PMP22 gene

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice

1 reference

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7 January 2021

Effective gene transfer of lacZ and P0 into Schwann cells of P0-deficient mice

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7 January 2021

Gene therapy of murine motor neuron disease using adenoviral vectors for neurotrophic factors

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7 January 2021

Adenovirus-mediated transfer of the neurotrophin-3 gene into skeletal muscle of pmn mice: therapeutic effects and mechanisms of action

1 reference

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7 January 2021

Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A

1 reference

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7 January 2021

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

1 reference

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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)

1 reference

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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.

1 reference

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7 January 2021

Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice

1 reference

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7 January 2021

Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene

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7 January 2021

Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene

1 reference

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7 January 2021

Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene

1 reference

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7 January 2021

Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy

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7 January 2021

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

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7 January 2021

Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

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7 January 2021

A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease

1 reference

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7 January 2021

Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease

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7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

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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

Animal models for inherited peripheral neuropathies.

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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

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

1 reference

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7 January 2021

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

1 reference

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7 January 2021

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.

1 reference

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7 January 2021

Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies

1 reference

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7 January 2021

Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Altered molecular architecture of peripheral nerves in mice lacking the peripheral myelin protein 22 or connexin32

1 reference

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7 January 2021

Connexin32 in hereditary neuropathies.

1 reference

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7 January 2021

Uncoupling of myelin assembly and schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22

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7 January 2021

PMP22 accumulation in aggresomes: implications for CMT1A pathology

1 reference

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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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2801%2900097-2

7 January 2021

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

1 reference

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7 January 2021

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1 reference

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7 January 2021

Distal axonopathy in peripheral nerves of PMP22-mutant mice

1 reference

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7 January 2021

Connexin32-null mice develop demyelinating peripheral neuropathy

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7 January 2021

Immune deficiency in mouse models for inherited peripheral neuropathies leads to improved myelin maintenance

1 reference

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7 January 2021

Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain

1 reference

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7 January 2021

A transgenic rat model of Charcot-Marie-Tooth disease

1 reference

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7 January 2021

Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin

1 reference

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7 January 2021

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

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7 January 2021

A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

1 reference

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7 January 2021

Peripheral myelin protein 22: facts and hypotheses

1 reference

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7 January 2021

Trembler mouse carries a point mutation in a myelin gene

1 reference

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7 January 2021

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

1 reference

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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

1 reference

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7 January 2021

Krox-20 controls myelination in the peripheral nervous system

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2801%2900097-2

7 January 2021

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2801%2900097-2

7 January 2021

Clinical toxicity of the interferons.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2801%2900097-2

7 January 2021

Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2801%2900097-2

7 January 2021

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

1 reference

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7 January 2021

Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case

1 reference

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7 January 2021

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

1 reference

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7 January 2021

Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity

1 reference

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7 January 2021

Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2801%2900097-2

7 January 2021

10.1016/S0165-0173(01)00097-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11690618%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

1 reference