Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study (Q33270749)

24 July 2017

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study (English)

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Hereditary inclusion body myopathy

24 July 2017

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Irini Manoli

4

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Michael Harris-Love

object named as

Michael Harris-Love

6

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author name string

Susan Sparks

1

1 reference

24 July 2017

Goran Rakocevic

2

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24 July 2017

Galen Joe

3

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24 July 2017

Joseph Shrader

5

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24 July 2017

Barbara Sonies

7

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24 July 2017

Carla Ciccone

8

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24 July 2017

Heidi Dorward

9

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24 July 2017

Donna Krasnewich

10

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24 July 2017

Marjan Huizing

11

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24 July 2017

Marinos C Dalakas

12

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24 July 2017

William A Gahl

13

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24 July 2017

29 January 2007

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24 July 2017

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24 July 2017

7

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24 July 2017

3

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https://scigraph.springernature.com/pub.10.1186/1471-2377-7-3

24 July 2017

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cites work

Aberrant glycosylation of alpha-dystroglycan and congenital muscular dystrophies.

1 reference

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Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy

21 June 2018

1 reference

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Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins

21 June 2018

1 reference

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Intravenous immunoglobulin in autoimmune neuromuscular diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1790898

The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy

21 June 2018

1 reference

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Glycosylation defects: a new mechanism for muscular dystrophy?

21 June 2018

1 reference

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Hereditary inclusion body myopathy: the Middle Eastern genetic cluster

21 June 2018

1 reference

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Dystroglycan glycosylation and its role in matrix binding in skeletal muscle

21 June 2018

1 reference

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

21 June 2018

1 reference

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

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1790898

Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1790898

Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1790898

21 June 2018

1 reference

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Sialylation is essential for early development in mice

21 June 2018

1 reference

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Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1790898

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1790898

The complexities of dystroglycan

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1790898

The neural cell adhesion molecule in synaptic plasticity and ageing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1790898

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1790898

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

21 June 2018

1 reference

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Sialic acids in molecular and cellular interactions

21 June 2018

1 reference

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Sialic acids as ligands in recognition phenomena.

21 June 2018

1 reference

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Inclusion body myositis and myopathies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1790898

Neural cell adhesion molecule (N-CAM) accumulates in denervated and paralyzed skeletal muscles

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1790898

Relationship of manual muscle testing to objective strength measurements

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1790898

Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease

21 June 2018

1 reference

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Diversity in the sialic acids

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1790898

Vacuolar myopathy sparing the quadriceps.

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-7-3

Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-7-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-7-3

Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-7-3

A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-7-3

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-7-3

The effects of lingual exercise on swallowing in older adults.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-7-3

Psychometric comparisons of the timed up and go, one-leg stand, functional reach, and Tinetti balance measures in community-dwelling older people.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-7-3

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-7-3

No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-7-3

Purification and characterization of N-acetylglucosamine kinase from rat liver--comparison with UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-7-3

Anti-Inflammatory Activity of Immunoglobulin G Resulting from Fc Sialylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-7-3

Regenerating and denervated human muscle fibers and satellite cells express neural cell adhesion molecule recognized by monoclonal antibodies to natural killer cells

21 January 2018

1 reference

12 December 2020

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations

1 reference

12 December 2020

The analysis of human serum transferrins with the PhastSystem: quantitation of microheterogeneity

1 reference

12 December 2020

Age effects on lingual pressure generation as a risk factor for dysphagia

1 reference

12 December 2020

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

1 reference

12 December 2020

alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy

1 reference

12 December 2020

Polysialylated neural cell adhesion molecule is necessary for selective targeting of regenerating motor neurons

1 reference

12 December 2020

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy

1 reference

12 December 2020

Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy

1 reference

12 December 2020

Quantitative motor assessment in amyotrophic lateral sclerosis

1 reference

12 December 2020

Sialic acid content in serum IgG from patients with myotonic dystrophy compared with healthy controls

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2377-7-3

1 reference

Dimensions Publication ID

24 July 2017

0 references

1 reference

24 July 2017

1 reference