A molecular basis for hereditary motor and sensory neuropathy disorders. (Q34566358)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11898503%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

review article

1 reference

title

A molecular basis for hereditary motor and sensory neuropathy disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11898503%20AND%20SRC:MED&resulttype=core&format=json

hereditary motor and sensory neuropathy

8 December 2019

main subject

0 references

author

Michael Shy

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11898503%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

author name string

J Balsamo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11898503%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

J Lilien

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11898503%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

J Kamholz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11898503%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

publication date

1 January 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11898503%20AND%20SRC:MED&resulttype=core&format=json

Current Neurology and Neuroscience Reports

8 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11898503%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11898503%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11898503%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

page(s)

77-88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11898503%20AND%20SRC:MED&resulttype=core&format=json

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

8 December 2019

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-001-0079-6

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-001-0079-6

NAB2, a corepressor of NGFI-A (Egr-1) and Krox20, is induced by proliferative and differentiative stimuli

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-001-0079-6

Regional modulation of neurofilament organization by myelination in normal axons

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Distal axonopathy in peripheral nerves of PMP22-mutant mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Multipotentiality of Schwann cells in cross-anastomosed and grafted myelinated and unmyelinated nerves: Quantitative microscopy and radioautography

1 reference

12 December 2020

Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)

1 reference

12 December 2020

Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain

1 reference

12 December 2020

Krox-20 controls myelination in the peripheral nervous system

1 reference

12 December 2020

Potential of Schwann cells from unmyelinated nerves to produce myelin: a quantitative ultrastructural and radiographic study

1 reference

12 December 2020

Axons regulate Schwann cell expression of the major myelin and NGF receptor genes

1 reference

12 December 2020

Myelin P0 glycoprotein: identification of the site phosphorylated in vitro and in vivo by endogenous protein kinases

1 reference

12 December 2020

Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

1 reference

12 December 2020

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

12 December 2020

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

1 reference

12 December 2020

Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I)

1 reference

12 December 2020

Molecular biology and genetics of gap junction channels

1 reference

12 December 2020

The POU factor Oct-6 and Schwann cell differentiation

1 reference

12 December 2020

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

1 reference

12 December 2020

Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity

1 reference

12 December 2020

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication

1 reference

12 December 2020

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

1 reference

12 December 2020

Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography

1 reference

12 December 2020

Absence of genetic linkage of Charcot-Marie-Tooth disease (HMSN Ia) with chromosome 1 gene markers

1 reference

12 December 2020

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

1 reference

12 December 2020

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

1 reference

12 December 2020

Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

1 reference

12 December 2020

A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.

1 reference

12 December 2020

Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics

1 reference

12 December 2020

Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis

1 reference

12 December 2020

Altered trafficking of mutant connexin32

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Tyrosine phosphorylation of myelin P(0) and its implication in signal transduction

1 reference

12 December 2020

The nature of myelinated nerve fiber degeneration in dominantly inherited hypertrophic neuropathy.

1 reference

12 December 2020

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

1 reference

12 December 2020

Charcot-Marie-Tooth disease and related peripheral neuropathies

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular mechanisms for CMT1A duplication and HNPP deletion

1 reference

12 December 2020

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group

1 reference

12 December 2020

X-linked dominant hereditary motor and sensory neuropathy

1 reference

12 December 2020

P0 protein in normal, trembler heterozygous/homozygous mice during active PNS myelination

1 reference

12 December 2020

A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene.

1 reference

12 December 2020

Intracellular transport and sorting of the oligodendrocyte transmembrane proteolipid protein.

1 reference

12 December 2020

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

1 reference

12 December 2020

A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR

1 reference

12 December 2020

Homophilic adhesion of the myelin P0 protein requires glycosylation of both molecules in the homophilic pair

1 reference

12 December 2020

Axonal signals regulate the differentiation of non-myelin-forming Schwann cells: an immunohistochemical study of galactocerebroside in transected and regenerating nerves

1 reference

12 December 2020

Developing motor neurons rescued from programmed and axotomy-induced cell death by GDNF

1 reference

12 December 2020

Gap junctions: new tools, new answers, new questions

1 reference

12 December 2020

Tst-1/Oct-6/SCIP regulates a unique step in peripheral myelination and is required for normal respiration

1 reference

12 December 2020

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

1 reference

12 December 2020

The regulation of Krox-20 expression reveals important steps in the control of peripheral glial cell development.

1 reference

12 December 2020

Genetically determined neuropathies

1 reference

12 December 2020

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

1 reference

12 December 2020

The absence of myelin P0 protein produces a novel molecular phenotype in Schwann cells

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study

1 reference

12 December 2020

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

1 reference

12 December 2020

Effects of PMP22 duplication and deletions on the axonal cytoskeleton

1 reference

12 December 2020

Altered slow axonal transport and regeneration in a myelin-deficient mutant mouse: the trembler as an in vivo model for Schwann cell-axon interactions

1 reference

12 December 2020

Phosphorylation of P0Glycoprotein in Peripheral Nerve Myelin

1 reference

12 December 2020

Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Myelin-Associated Glycoprotein: Electron Microscopic Immunocytochemical Localization in Compact Developing and Adult Central Nervous System Myelin

1 reference

12 December 2020

Abnormal myelination in transplanted Trembler mouse Schwann cells

1 reference

12 December 2020

Hereditary motor and sensory neuropathy, X-linked: a half century follow-up

1 reference

12 December 2020

Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families

1 reference

12 December 2020

Genetic aspects of hereditary motor and sensory neuropathy (types I and II)

1 reference

12 December 2020

Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17

1 reference

12 December 2020

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage

1 reference

12 December 2020

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

1 reference

12 December 2020

Evolution of nerve conduction abnormalities in children with dominant hypertrophic neuropathy of the Charcot-Marie-Tooth type

1 reference

12 December 2020

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13

1 reference

12 December 2020

Role of myelin Po protein as a homophilic adhesion molecule

1 reference

12 December 2020

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

1 reference

12 December 2020

Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination

1 reference

12 December 2020

Cell lineage analysis in neural crest ontogeny

1 reference

12 December 2020

Developmental expression of the P0 glycoprotein and basic protein mRNAs in normal and trembler mutant mice.

1 reference

12 December 2020

The cytoplasmic domain of the myelin P0 protein influences the adhesive interactions of its extracellular domain

1 reference

12 December 2020

The biology and pathobiology of Schwann cells.

1 reference

12 December 2020

Connections with connexins: the molecular basis of direct intercellular signaling

1 reference

12 December 2020

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

1 reference

12 December 2020

In vivo neurotrophic effects of GDNF on neonatal and adult facial motor neurons

1 reference

12 December 2020

Screening of dominantly inherited Charcot-Marie-Tooth neuropathies

1 reference

12 December 2020

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

12 December 2020

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1 reference

12 December 2020

From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins

1 reference

12 December 2020