(Q34133029)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

7

1 reference

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22 January 2020

Richard J Rodenburg

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Aviva Fattal-Valevski

6

object named as

Aviva Fattal-Valevski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

9

Frederik Barkhof

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

11

Petra J W Pouwels

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

author name string

Marjan E Steenweg

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Adeline Vanderver

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Berten Ceulemans

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Prab Prabhakar

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Luc Régal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Barbara Goeggel Simonetti

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Marjo S van der Knaap

12

1 reference

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22 January 2020

publication date

1 June 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

published in

Archives of Neurology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

69

1 reference

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22 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

page(s)

718-722

1 reference

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Invited article: an MRI-based approach to the diagnosis of white matter disorders

22 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154514

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154514

ATP6 homoplasmic mutations inhibit and destabilize the human F1F0-ATP synthase without preventing enzyme assembly and oligomerization.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154514

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154514

The latest on leukodystrophies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154514

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154514

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154514

MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154514

Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154514

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154514

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154514

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154514

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22312165

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Estimation of metabolite concentrations from localized in vivo proton NMR spectra

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22312165

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/ARCHNEUROL.2011.1048

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312165%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference