(Q38100659)

28 August 2017

title

A review of genetic counseling for Charcot Marie Tooth disease (CMT). (English)

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28 August 2017

Carly E Siskind

1

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28 August 2017

Seema Panchal

2

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28 August 2017

Corrine O Smith

3

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28 August 2017

Shawna M E Feely

4

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28 August 2017

Joline C Dalton

5

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28 August 2017

Alice B Schindler

6

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28 August 2017

Karen M Krajewski

7

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28 August 2017

publication date

21 April 2013

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Journal of Genetic Counseling

28 August 2017

published in

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28 August 2017

volume

22

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28 August 2017

issue

4

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28 August 2017

page(s)

422-436

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Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies

28 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Psychosocial issues that face patients with Charcot-Marie-Tooth disease: the role of genetic counseling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Phenotype of Charcot-Marie-Tooth disease Type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

CMT4A: identification of a Hispanic GDAP1 founder mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

MFN2 mutations cause severe phenotypes in most patients with CMT2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Protein composition of myelin of the peripheral nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Four novel cases of periaxin-related neuropathy and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

X inactivation in females with X-linked Charcot-Marie-Tooth disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Disability and quality of life in Charcot-Marie-Tooth disease type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Diabetes mellitus exacerbates motor and sensory impairment in CMT1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Persistent CNS dysfunction in a boy with CMT1X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Comparison of solution-based exome capture methods for next generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

The phenotypic manifestations of chromosome 17p11.2 duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Medication-induced exacerbation of neuropathy in Charcot Marie Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

21 January 2018

12 December 2020

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Comparison of CMT1A and CMT2: similarities and differences

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9584-4

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

21 January 2018

1 reference

12 December 2020

2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 19

1 reference

12 December 2020

Variable phenotypes are associated with PMP22 missense mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine,

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene

1 reference

12 December 2020

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

1 reference

12 December 2020

Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name

1 reference

12 December 2020

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

1 reference

12 December 2020

Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus

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

CMT1X phenotypes represent loss of GJB1 gene function

1 reference

12 December 2020

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals

1 reference

12 December 2020

Phenotype expression in women with CMT1X

1 reference

12 December 2020

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

1 reference

12 December 2020

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

1 reference

12 December 2020

High frequency of SH3TC2 mutations in Czech HMSN I patients

1 reference

12 December 2020

10.1007/S10897-013-9584-4

Identifiers

DOI

1 reference

28 August 2017

1 reference