(Q41141728)

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GNE myopathy

scientific article published on 6 November 2015

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scholarly article

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Europe PubMed Central

27 September 2017

GNE myopathy (English)

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Europe PubMed Central

27 September 2017

object named as

Anthony Béhin

2

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author name string

J Andoni Urtizberea

1

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Europe PubMed Central

27 September 2017

language of work or name

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publication date

6 November 2015

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Europe PubMed Central

27 September 2017

médecine/sciences

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Europe PubMed Central

27 September 2017

31 Spec No 3

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Europe PubMed Central

27 September 2017

20-27

1 reference

Europe PubMed Central

27 September 2017

Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Two recurrent mutations are associated with GNE myopathy in the North of Britain.

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Genetics of GNE myopathy in the non-Jewish Persian population

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

GNE myopathy: new name and new mutation nomenclature

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

GNE myopathy in India.

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

GNE myopathy: current update and future therapy.

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Muscle imaging findings in GNE myopathy.

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Crystal Structure of the N-Acetylmannosamine Kinase Domain of GNE

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F201531S306

21 January 2018

Identifiers

10.1051/MEDSCI/201531S306

1 reference

Europe PubMed Central

27 September 2017

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1 reference

Europe PubMed Central

27 September 2017

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