(Q30495725)

16 August 2017

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

1 reference

16 August 2017

0 references

Nicholson G

1

1 reference

16 August 2017

Corbett A

series ordinal

2

1 reference

16 August 2017

language of work or name

English

0 references

publication date

1 July 1996

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

16 August 2017

1 reference

16 August 2017

61

1 reference

16 August 2017

1

1 reference

16 August 2017

43-46

1 reference

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

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

Gap junctions in the brain: where, what type, how many and why?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

Brainstem auditory evoked responses in hereditary motor-sensory neuropathy: site of origin of wave II.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

Auditory function in hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

Acoustic nerve conduction abnormalities in Guillain-Barré syndrome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

Visual and brainstem auditory evoked potentials in hereditary motor-sensory neuropathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

Three modality evoked potentials in Charcot-Marie-Tooth disease (HMSN-1).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

Population frequencies of inherited neuromuscular diseases—A world survey

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

F response and somatosensory and brainstem auditory evoked potential studies in HMSN type I and II

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

Abnormal auditory evoked potentials in hereditary motor-sensory neuropathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486455

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

26 November 2018

1 reference

12 December 2020

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease

1 reference

12 December 2020

Structure of the junction between communicating cells

1 reference

12 December 2020

Electrophysiological study (EEG, VEPs, BAEPs) in patients with Charcot Marie Tooth (type HMSN I) disease

1 reference

12 December 2020

The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I

1 reference

12 December 2020

Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The Charcot-Marie-Tooth syndrome: clinical aspects from a population study in South Wales, UK

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.61.1.43

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

8676158

1 reference