(Q54220036)

26 May 2018

title

X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. (English)

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26 May 2018

Charcot-Marie-Tooth disease type 6

main subject

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Marina L Kennerson

1

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26 May 2018

Eun J Kim

2

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26 May 2018

Anna Siddell

3

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26 May 2018

Aditi Kidambi

4

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26 May 2018

Sung M Kim

5

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26 May 2018

Young B Hong

6

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26 May 2018

Sun H Hwang

7

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26 May 2018

Ki W Chung

8

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26 May 2018

Byung-Ok Choi

9

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26 May 2018

publication date

1 March 2016

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26 May 2018

Journal of the Peripheral Nervous System

published in

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26 May 2018

volume

21

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issue

1

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26 May 2018

page(s)

45-51

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26 May 2018

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

cites work

1 reference

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

21 January 2018

1 reference

Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A.

21 January 2018

1 reference

The CpG dinucleotide and human genetic disease

21 January 2018

1 reference

Molecular basis of base substitution hotspots in Escherichia coli

21 January 2018

1 reference

Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells

21 January 2018

1 reference

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

21 January 2018

1 reference

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

21 January 2018

1 reference

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)

21 January 2018

1 reference

Site specificity of four pyruvate dehydrogenase kinase isoenzymes toward the three phosphorylation sites of human pyruvate dehydrogenase

21 January 2018

1 reference

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

21 January 2018

1 reference

Intermediate forms of Charcot-Marie-Tooth neuropathy: a review

21 January 2018

1 reference

Regulation of mammalian pyruvate dehydrogenase complex by phosphorylation: complexity of multiple phosphorylation sites and kinases

21 January 2018

1 reference

The pyruvate dehydrogenase complexes: structure-based function and regulation

21 January 2018

1 reference

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/JNS.12160

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26 May 2018

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26 May 2018