(Q24303372)

generation of precursor metabolites and energy

GOA release 2020-03-11

1 reference

Charcot-Marie-Tooth disease type 2

GOA release 2020-03-11

1 reference

Yan Chen

11

1 reference

ORCID Public Data File 2021

author name string

Wang-Yang Xu

1

0 references

Ming-Min Gu

2

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Lian-Hua Sun

3

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Wen-Ting Guo

4

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Hou-Bao Zhu

5

0 references

Jian-Fang Ma

6

0 references

Wen-Tao Yuan

7

0 references

Ying Kuang

8

0 references

Bao-Jun Ji

9

0 references

Xiao-Lin Wu

10

0 references

Hong-Xin Zhang

12

0 references

Fu-Ting Sun

13

0 references

Wei Huang

14

0 references

Lei Huang

15

0 references

Sheng-di Chen

16

0 references

Zhu-Gang Wang

American Journal of Human Genetics

17

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language of work or name

English

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publication date

7 December 2012

0 references

published in

0 references

volume

91

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issue

6

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page(s)

1088-94

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cites work

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The Sequence of the Human Genome

19 March 2017

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

19 March 2017

1 reference

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Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

27 September 2017

1 reference

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Charcot-Marie-Tooth disease subtypes and genetic testing strategies

27 September 2017

1 reference

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Update on Charcot-Marie-Tooth disease.

27 September 2017

1 reference

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Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

27 September 2017

1 reference

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

27 September 2017

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27 September 2017

1 reference

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Structure-function relationships in the 2-oxo acid dehydrogenase family: substrate-specific signatures and functional predictions for the 2-oxoglutarate dehydrogenase-like proteins

27 September 2017

1 reference

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Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease

27 September 2017

1 reference

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

27 September 2017

1 reference

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Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease

27 September 2017

1 reference

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Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

27 September 2017

1 reference

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Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts

27 September 2017

1 reference

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The alpha-ketoglutarate dehydrogenase complex in neurodegeneration

27 September 2017

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NAD+ and NADH regulate an ATP-dependent kinase that phosphorylates enzyme I of the Escherichia coli phosphotransferase system

27 September 2017

1 reference

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Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

27 September 2017

1 reference

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The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516600

Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23141294