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Unknown
(194)
Genomics
(23)
Transcriptomics
(11)
Proteomics
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Metabolomics
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Organisms
Homo sapiens
(30)
Drosophila melanogaster
(2)
Bos taurus
(1)
Arabidopsis thaliana
(1)
Repository
EGA
(23)
biostudies-arrayexpress
(11)
MassIVE
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MetaboLights
(1)
Technology Type
Illumina Genome Analyzer II
(2)
AB SOLiD 4 System, Illumina HiSeq 2500, Illumina HiSeq 2000, AB SOLiD System 3.0
(1)
Affymetrix 6.0, Illumina Genome Analyzer II
(1)
Mass spectrometry
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Instrument Platform
Q Exactive
(2)
Fluidic Station 450
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GCS3000
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GenePix 4000A [Axon Instruments]
(1)
Publication Date
2014
(4)
2015
(3)
2010
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2022
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2020
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2006
(1)
CHEBI ID
CHEBI:10072
(1)
CHEBI:111517
(1)
CHEBI:132477
(1)
CHEBI:132479
(1)
CHEBI:132506
(1)
CHEBI:132948
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CHEBI:132966
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CHEBI:132983
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CHEBI:132991
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CHEBI:133057
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CHEBI:133148
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CHEBI:133172
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CHEBI:133181
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CHEBI:133183
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CHEBI:133217
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CHEBI:133226
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CHEBI:133460
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CHEBI:133469
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CHEBI:133512
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CHEBI:133559
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CHEBI:133562
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CHEBI:133565
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CHEBI:133677
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CHEBI:133693
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CHEBI:138529
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CHEBI:139136
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CHEBI:139138
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Metabolite Name
1-methyl-4-imidazoleacetate
(1)
1-methyladenosine
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1-methylhistamine
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1-methylnicotinamide
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12,13-DiHOME
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Study type
Transcription profiling by array
(4)
Comparative genomic hybridization by array
(2)
Methylation profiling by array
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RNA-seq of non coding RNA
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Cell line - One-color microarray
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2024
(28)
2017
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2014
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Genetic and clinical characteristics of <i>NEFL</i>-related Charcot-Marie-Tooth disease.
Not available
S-EPMC5580821
|
biostudies-literature
Cite
Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.
Not available
S-EPMC4920059
|
biostudies-literature
Cite
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Not available
S-EPMC11370804
|
biostudies-literature
Cite
Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans.
Not available
S-EPMC5347688
|
biostudies-literature
Cite
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.
Not available
S-EPMC5513089
|
biostudies-literature
Cite
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Not available
S-EPMC4225647
|
biostudies-literature
Cite
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Not available
S-EPMC10545504
|
biostudies-literature
Cite
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Not available
S-EPMC7805791
|
biostudies-literature
Cite
Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease.
Not available
S-EPMC9202530
|
biostudies-literature
Cite
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Not available
S-EPMC10409571
|
biostudies-literature
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