(Q34566690)

3 August 2017

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title

The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy (English)

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3 August 2017

3

James R Lupski

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3 August 2017

Cornelius F Boerkoel

1

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3 August 2017

Hiroshi Takashima

series ordinal

2

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3 August 2017

publication date

1 January 2002

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Current Neurology and Neuroscience Reports

3 August 2017

published in

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3 August 2017

volume

2

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3 August 2017

issue

1

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3 August 2017

page(s)

70-77

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https://scigraph.springernature.com/pub.10.1007/s11910-002-0056-8

3 August 2017

exact match

0 references

cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-002-0056-8

Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-002-0056-8

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

21 January 2018

1 reference

12 December 2020

Subunit composition of neurofilaments specifies axonal diameter.

1 reference

12 December 2020

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1 reference

12 December 2020

Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.

1 reference

12 December 2020

Krox-20 controls myelination in the peripheral nervous system

1 reference

12 December 2020

Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

1 reference

12 December 2020

X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study.

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field

1 reference

12 December 2020

Connexin32 and X-linked Charcot-Marie-Tooth disease

1 reference

12 December 2020

Axonal pathology in demyelinating diseases

1 reference

12 December 2020

A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

1 reference

12 December 2020

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

1 reference

12 December 2020

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1

1 reference

12 December 2020

The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.

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

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

1 reference

12 December 2020

The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease.

1 reference

12 December 2020

Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy

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

Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene

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 second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

1 reference

12 December 2020

Neurofilament triplet protein interactions: evidence for the preferred formation of NF-L-containing dimers and a putative function for the end domains.

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease

1 reference

12 December 2020

De-novo mutation in hereditary motor and sensory neuropathy type I.

1 reference

12 December 2020

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations

1 reference

12 December 2020

Effects of PMP22 duplication and deletions on the axonal cytoskeleton

1 reference

12 December 2020

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

1 reference

12 December 2020

Association of SET domain and myotubularin-related proteins modulates growth control

1 reference

12 December 2020

An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins

1 reference

12 December 2020

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

1 reference

12 December 2020

The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q

1 reference

12 December 2020

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

1 reference

12 December 2020

Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

1 reference

12 December 2020

The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter

1 reference

12 December 2020

Molecular anatomy and genetics of myelin proteins in the peripheral nervous system

1 reference

12 December 2020

EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression.

1 reference

12 December 2020

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

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

Immunohistochemical and ultrastructural classification of peripheral neuropathies with onion-bulbs

1 reference

12 December 2020

Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20.

1 reference

12 December 2020

Aberrant neurofilament phosphorylation in sensory neurons of rats with diabetic neuropathy

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

The biology and pathobiology of Schwann cells.

1 reference

12 December 2020

The challenge of CMTX and connexin 32 mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26.

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

Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.

1 reference

12 December 2020

10.1007/S11910-002-0056-8

Identifiers

DOI

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Dimensions Publication ID

3 August 2017

1047457404

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1 reference