(Q28478647)

Adam Jozwiak

12

0 references

Martin Lammens

Martin Lammens

15

0 references

Jeroen van Reeuwijk

11

Janneke H M Schuurs-Hoeijmakers

Jeroen van Reeuwijk

0 references

5

Janneke H M Schuurs-Hoeijmakers

0 references

Arjan P M de Brouwer

2

Arjan P M de Brouwer

0 references

Ron A. Wevers

22

Ron A Wevers

0 references

author name string

Dirk J Lefeber

1

0 references

Eva Morava

3

0 references

Moniek Riemersma

4

0 references

Birgit Absmanner

6

0 references

Kiek Verrijp

7

0 references

Willem M R van den Akker

8

0 references

Karin Huijben

9

0 references

Gerry Steenbergen

10

0 references

Nili Zucker

13

0 references

Avraham Lorber

14

0 references

Carlos Knopf

16

0 references

Stephanie Grünewald

18

0 references

Ludwig Lehle

19

0 references

Livia Kapusta

20

0 references

Hanna Mandel

Creative Commons Attribution 4.0 International

21

0 references

language of work or name

English

0 references

publication date

December 2011

0 references

published in

PLOS Genetics

0 references

volume

7

0 references

issue

12

0 references

page(s)

e1002427

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copyright license

start time

29 December 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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1 reference

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Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

19 March 2017

1 reference

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PLINK: a tool set for whole-genome association and population-based linkage analyses

19 March 2017

1 reference

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A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

19 March 2017

1 reference

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Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

19 March 2017

1 reference

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Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site

19 March 2017

1 reference

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Expression and characterization of a human cDNA ...

19 March 2017

1 reference

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MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

19 March 2017

1 reference

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A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

19 March 2017

1 reference

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Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

19 March 2017

1 reference

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Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

19 March 2017

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

19 March 2017

1 reference

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Human non-synonymous SNPs: server and survey

19 March 2017

1 reference

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Update 2011: clinical and genetic issues in familial dilated cardiomyopathy

7 April 2017

1 reference

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Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

29 September 2017

1 reference

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From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

29 September 2017

1 reference

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A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

29 September 2017

1 reference

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O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding.

29 September 2017

1 reference

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Biochemical characterization, membrane association and identification of amino acids essential for the function of Alg11 from Saccharomyces cerevisiae, an alpha1,2-mannosyltransferase catalysing two sequential glycosylation steps in the formation of

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3248466

Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2.

29 September 2017

1 reference

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Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

29 September 2017

1 reference

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Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.

29 September 2017

1 reference

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Dystroglycan: from biosynthesis to pathogenesis of human disease.

29 September 2017

1 reference

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Glyc-O-genetics of Walker-Warburg syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3248466

Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3248466

Cardiomyopathy in congenital disorders of glycosylation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3248466

Accounting for human polymorphisms predicted to affect protein function

29 September 2017

1 reference

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Current perspective new insights into the molecular basis of familial dilated cardiomyopathy

29 September 2017

1 reference

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The influence of dolichol, dolichol esters, and dolichyl phosphate on phospholipid polymorphism and fluidity in model membranes

29 September 2017

1 reference

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Dystroglycan matrix receptor function in cardiac myocytes is important for limiting activity-induced myocardial damage.

29 September 2017

1 reference

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Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

2 June 2018

1 reference

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The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy

2 June 2018

1 reference

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Frequency and phenotypes of familial dilated cardiomyopathy.

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002427

Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the Eastern Province of Saudi Arabia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002427

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002427

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002427

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002427

Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease

21 January 2018

1 reference

12 December 2020

The liver in congenital disorders of glycosylation: ultrastructural features

1 reference

12 December 2020

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia

1 reference

12 December 2020

Optimized separation and quantitation of serum and cerebrospinal fluid transferrin subfractions defined by differences in iron saturation or glycan composition

1 reference

12 December 2020

Biosynthesis of glycoproteins in Candida albicans: activity of dolichol phosphate mannose synthase and protein mannosylation in a mixed membrane fraction

1 reference

12 December 2020

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1002427

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

22242004

1 reference