(Q42699052)

5 November 2017

Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD. (English)

1 reference

5 November 2017

1 reference

Odile Boespflug-Tanguy

1

1 reference

5 November 2017

Patrick Aubourg

2

1 reference

5 November 2017

Imen Dorboz

3

1 reference

5 November 2017

Mélina Bégou

4

1 reference

5 November 2017

Geneviève Giraud

5

1 reference

5 November 2017

Catherine Sarret

6

1 reference

5 November 2017

Catherine Vaurs-Barrière

7

1 reference

5 November 2017

language of work or name

English

0 references

publication date

1 March 2011

1 reference

American Journal of Human Genetics

5 November 2017

1 reference

5 November 2017

88

1 reference

5 November 2017

3

1 reference

5 November 2017

392-3; author reply 393-5

1 reference

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

5 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059435

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059435

The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059435

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059435

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059435

Genes involved in leukodystrophies: a glance at glial functions.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059435

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059435

Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059435

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059435

10.1016/J.AJHG.2010.12.015

16 August 2018

Identifiers

DOI

1 reference

5 November 2017

1 reference

5 November 2017

PubMed publication ID

21397067

1 reference