(Q44769590)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14972325 AND SRC:MED&resulttype=core&format=json

23 November 2019

title

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations (English)

1 reference

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23 November 2019

0 references

5

1 reference

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23 November 2019

author name string

Marjan Huizing

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14972325 AND SRC:MED&resulttype=core&format=json

23 November 2019

Goran Rakocevic

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14972325 AND SRC:MED&resulttype=core&format=json

23 November 2019

Susan E Sparks

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14972325 AND SRC:MED&resulttype=core&format=json

23 November 2019

Ioanna Mamali

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14972325 AND SRC:MED&resulttype=core&format=json

23 November 2019

Lev Goldfarb

6

1 reference

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23 November 2019

Donna Krasnewich

7

1 reference

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23 November 2019

William A Gahl

8

1 reference

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23 November 2019

Marinos C Dalakas

9

1 reference

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23 November 2019

publication date

1 March 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14972325 AND SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

23 November 2019

published in

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23 November 2019

volume

81

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23 November 2019

issue

3

1 reference

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23 November 2019

page(s)

196-202

1 reference

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Inclusion body myositis and myopathies

23 November 2019

cites work

1 reference

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The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews

7 January 2021

1 reference

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The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.11.012

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

7 January 2021

1 reference

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A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.11.012

UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation

7 January 2021

1 reference

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Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function.

7 January 2021

1 reference

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The complexities of dystroglycan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.11.012

Glycobiology of neuromuscular disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.11.012

GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM

7 January 2021

1 reference

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Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

7 January 2021

1 reference

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Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

7 January 2021

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Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

7 January 2021

1 reference

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

7 January 2021

1 reference

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Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

7 January 2021

1 reference

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

7 January 2021

1 reference

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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.11.012

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.11.012

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.11.012

O-mannosyl glycans in mammals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.11.012

Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.11.012

Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: current concepts of diagnosis and pathogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.11.012

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2003.11.012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14972325 AND SRC:MED&resulttype=core&format=json

23 November 2019

1 reference