(Q37242943)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

congenital muscular dystrophy

14 January 2020

main subject

congenital disorder

0 references

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Ichizo Nishino

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

author name string

Terumi Murakami

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Yukiko K Hayashi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Megumu Ogawa

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Satoru Noguchi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Masami Togawa

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Takehiko Inoue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Akira Oka

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Kousaku Ohno

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Ikuya Nonaka

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

publication date

19 September 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

published in

Brain and Development

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

volume

31

1 reference

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14 January 2020

issue

6

1 reference

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14 January 2020

page(s)

465-468

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

14 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=2702532

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702532

New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702532

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702532

Physical and functional association of human protein O-mannosyltransferases 1 and 2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702532

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702532

POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702532

POMT2 mutation in a patient with 'MEB-like' phenotype.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702532

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702532

Diagnosis and etiology of congenital muscular dystrophy

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18804929

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.BRAINDEV.2008.08.005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804929%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

PubMed publication ID

18804929

1 reference