GNE myopathy: new name and new mutation nomenclature. - Wikidata - awgldk - TriplyDB

GNE myopathy: new name and new mutation nomenclature.

GNE myopathy: new name and new mutation nomenclature.

http://www.wikidata.org/entity/Q33587430

about

Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.Mutation update for GNE gene variants associated with GNE myopathy.Atypical presentation of GNE myopathy with asymmetric hand weakness.GNE myopathy: current update and future therapy.Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation GNE Myopathy: Two Clusters with History and Several Founder Mutations.The nutritional role of free sialic acid, a human milk monosaccharide, and its application as a functional food ingredient.Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.[GNE myopathy].Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy GNE myopathy: a personal trip from bedside observation to therapeutic trials.The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant.Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.GNE missense mutation in recessive familial amyotrophic lateral sclerosis.Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.[GNE myopathy: proven failure of sialic acid supplementation… what's next?]GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology.GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis.GNE myopathy: from clinics and genetics to pathology and research strategies.Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy

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P2860

GNE myopathy: new name and new mutation nomenclature.

http://www.wikidata.org/entity/Q33587430

description

2014 nî lūn-bûn

@nan

2014 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի մարտին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

GNE myopathy: new name and new mutation nomenclature.

@ast

GNE myopathy: new name and new mutation nomenclature.

@en

GNE myopathy: new name and new mutation nomenclature.

@nl

type

label

GNE myopathy: new name and new mutation nomenclature.

@ast

GNE myopathy: new name and new mutation nomenclature.

@en

GNE myopathy: new name and new mutation nomenclature.

@nl

prefLabel

GNE myopathy: new name and new mutation nomenclature.

@ast

GNE myopathy: new name and new mutation nomenclature.

@en

GNE myopathy: new name and new mutation nomenclature.

@nl

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P356

J.NMD.2014.03.004

P1433

Neuromuscular Disorders

P1476

GNE myopathy: new name and new mutation nomenclature.

@en

P2093

Marjan Huizing

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May Christine V Malicdan

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Satoru Noguchi

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Stella Mitrani-Rosenbaum

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William A Gahl

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Zohar Argov

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P2860

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

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

Hereditary inclusion body myopathy maps to chromosome 9p1-q1

Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation

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

Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes.

"Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews.

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387-389

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scholarly article

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10.1016/J.NMD.2014.03.004

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5

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24

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Nuria Carrillo-Carrasco

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2014-03-13T00:00:00Z

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260801333

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24685570

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4015343

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