Mechanisms of disease: inherited demyelinating neuropathies--from basic to clinical research (Q36900083)

17 August 2017

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title

Mechanisms of disease: inherited demyelinating neuropathies--from basic to clinical research (English)

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17 August 2017

1

Klaus-Armin Nave

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17 August 2017

3

Hannelore Ehrenreich

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author name string

Michael W Sereda

series ordinal

2

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17 August 2017

1 August 2007

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Nature Clinical Practice Neurology

17 August 2017

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17 August 2017

3

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17 August 2017

453-464

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17 August 2017

8

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Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.

17 August 2017

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

Reliability and validity of the CMT neuropathy score as a measure of disability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Assessment of axonal loss in Charcot-Marie-Tooth neuropathies.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Inherited neuropathies: from gene to disease.

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https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Immune-mediated components of hereditary demyelinating neuropathies: lessons from animal models and patients

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Clinical features and molecular genetics of hereditary peripheral neuropathies

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Charcot-Marie-Tooth disease: an update

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Disease mechanisms in inherited neuropathies

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Animal models of inherited neuropathies

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Molecular genetics, biology, and therapy for inherited peripheral neuropathies

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease).

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A).

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): The study protocol [EudraCT no.: 2006-000032-27]

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

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/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

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/10.1038%2FNCPNEURO0583

7 January 2021

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Trembler mouse carries a point mutation in a myelin gene

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

A transgenic rat model of Charcot-Marie-Tooth disease

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https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

PMP22 accumulation in aggresomes: implications for CMT1A pathology

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Aggresomes: a cellular response to misfolded proteins

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Role of myelin Po protein as a homophilic adhesion molecule

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

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/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Schwann cell myelination requires timely and precise targeting of P(0) protein

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice

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https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Role of immune cells in animal models for inherited neuropathies: facts and visions

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https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Role of immune cells in animal models for inherited peripheral neuropathies

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Axon damage in CMT due to mutation in myelin protein P0

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

X-linked dominant hereditary motor and sensory neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Molecular genetics of X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Connexin32-null mice develop demyelinating peripheral neuropathy.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Evidence for macrophage-mediated myelin disruption in an animal model for Charcot-Marie-Tooth neuropathy type 1A.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Connexin32 is a myelin-related protein in the PNS and CNS

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Functional gap junctions in the schwann cell myelin sheath

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Diverse trafficking abnormalities of connexin32 mutants causing CMTX

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with "zinc-binding finger" structure

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Regulation of cholesterol/lipid biosynthetic genes by Egr2/Krox20 during peripheral nerve myelination

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Krox-20 controls myelination in the peripheral nervous system

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Direct regulation of myelin protein zero expression by the Egr2 transactivator

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

The latest on leukodystrophies

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Disruption of ErbB receptor signaling in adult non-myelinating Schwann cells causes progressive sensory loss

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Axonal swellings and degeneration in mice lacking the major proteolipid of myelin.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Critical dependence of neurons on mitochondrial dynamics

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Diabetic neuropathy and oxidative stress

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Therapeutic strategies for the inherited neuropathies.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Erythropoietin is neuroprotective in models of HIV sensory neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Effects of erythropoietin on glial cell development; oligodendrocyte maturation and astrocyte proliferation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0583

7 January 2021

Identifiers

DOI

10.1038/NCPNEURO0583

1 reference

17 August 2017

1 reference

PubMed ID

17671523