(Q34381818)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21092922%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation (English)

1 reference

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16 January 2020

1 reference

6

1 reference

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16 January 2020

Ohad Birk

12

1 reference

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16 January 2020

author name string

Miora Feinstein

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21092922%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Barak Markus

2

1 reference

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16 January 2020

Iris Noyman

3

1 reference

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16 January 2020

Hannah Shalev

4

1 reference

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16 January 2020

Hagit Flusser

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21092922%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Keren Liani-Leibson

7

1 reference

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16 January 2020

Zamir Shorer

8

1 reference

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16 January 2020

Idan Cohen

9

1 reference

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16 January 2020

Shareef Khateeb

10

1 reference

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16 January 2020

Sara Sivan

11

1 reference

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16 January 2020

language of work or name

English

0 references

publication date

18 November 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21092922%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

16 January 2020

published in

1 reference

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16 January 2020

volume

87

1 reference

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16 January 2020

issue

6

1 reference

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16 January 2020

page(s)

820-828

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21092922%20AND%20SRC:MED&resulttype=core&format=json

Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy

16 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=2997381

Syndrome to gene (S2G): in-silico identification of candidate genes for human diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

MSC p43 required for axonal development in motor neurons.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Aminoacyl tRNA synthetases and their connections to disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

PLA2G6 mutation underlies infantile neuroaxonal dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

"Heads and tails" of intermediate filament phosphorylation: multiple sites and functional insights.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Neurofilament phosphoforms: surrogate markers for axonal injury, degeneration and loss

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

SMART, a simple modular architecture research tool: identification of signaling domains

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Characterization of a novel tumor-derived cytokine. Endothelial-monocyte activating polypeptide II

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Easy calculations of lod scores and genetic risks on small computers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Construction of a genetic linkage map in man using restriction fragment length polymorphisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Neurofilament phosphorylation: a new look at regulation and function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Structural separation of different extracellular activities in aminoacyl-tRNA synthetase-interacting multi-functional protein, p43/AIMP1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997381

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

27 October 2018

1 reference

12 December 2020

Aminoacyl-tRNA synthetase-interacting multi-functional protein 1/p43: an emerging therapeutic protein working at systems level

1 reference

12 December 2020

A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family

1 reference

12 December 2020

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype

1 reference

12 December 2020

10.1016/J.AJHG.2010.10.016

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21092922%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21092922%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

21092922

1 reference