Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. (Q34534494)

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English	Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.	scientific article

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scholarly article

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8 February 2020

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20661612%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

X-linked adrenoleukodystrophy

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based on heuristic

inferred from title

8

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8 February 2020

author name string

Takashi Matsukawa

1

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8 February 2020

Muriel Asheuer

2

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8 February 2020

Yuji Takahashi

3

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8 February 2020

Jun Goto

4

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8 February 2020

Yasuyuki Suzuki

5

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8 February 2020

Nobuyuki Shimozawa

6

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8 February 2020

Hiroki Takano

7

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8 February 2020

Masatoyo Nishizawa

9

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8 February 2020

Patrick Aubourg

10

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8 February 2020

Shoji Tsuji

11

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8 February 2020

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27 July 2010

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8 February 2020

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8 February 2020

12

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8 February 2020

1

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8 February 2020

41-50

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8 February 2020

https://scigraph.springernature.com/pub.10.1007/s10048-010-0253-6

0 references

Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

Haploview: analysis and visualization of LD and haplotype maps

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

The structure of haplotype blocks in the human genome

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

Genomic organization of the adrenoleukodystrophy gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

Mutational analysis of patients with X-linked adrenoleukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

Fatty acid abnormality in adrenoleukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

Adrenoleukodystrophy. A clinical and pathological study of 17 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029816

7 July 2018

Treatment of adrenoleukodystrophy with bone marrow transplantation.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0253-6

21 January 2018

Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0253-6

21 January 2018

Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0253-6

21 January 2018

Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0253-6

21 January 2018

Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0253-6

21 January 2018

Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0253-6

21 January 2018

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/20661612

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20661612

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described

1 reference

https://pubmed.ncbi.nlm.nih.gov/20661612

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20661612

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20661612

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20661612

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/20661612

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1007/S10048-010-0253-6

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8 February 2020

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8 February 2020

PubMed publication ID

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8 February 2020

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