Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. - Wikidata - awgldk - TriplyDB

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

http://www.wikidata.org/entity/Q30457921

about

Neurological aspects of human glycosylation disorders Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness.Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes Muscle magnetic resonance imaging in congenital myasthenic syndromes.Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Congenital disorders of glycosylation: new defects and still counting.Inherited disorders of the neuromuscular junction: an update.Generation and degradation of free asparagine-linked glycans.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Clinical features of the myasthenic syndrome arising from mutations in GMPPB.Use of stimulated electromyography in the analysis of the neuromuscular junction in children.COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review Choice of transcripts and software has a large effect on variant annotation.Defective ALG2 causes ALG2-CDG (CDG-1i)Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes.MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide.Clinical and research strategies for limb-girdle congenital myasthenic syndromes.Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A.Defective ALG14 does not transfer GlcNAc from UDP-GlcNAc to GlcNAcDOLP A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.

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P2860

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

http://www.wikidata.org/entity/Q30457921

description

2013 nî lūn-bûn

@nan

2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2013年の論文

@ja

2013年学术文章

@wuu

2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

@zh-sg

2013年學術文章

@yue

name

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

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Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

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type

label

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

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Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

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prefLabel

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

@ast

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

@en

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Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

@en

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David Beeson

http://www.w3.org/2001/XMLSchema#string

David Bentley

http://www.w3.org/2001/XMLSchema#string

Debbie Hicks

http://www.w3.org/2001/XMLSchema#string

Golara Torabi Farsani

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Judith Cossins

http://www.w3.org/2001/XMLSchema#string

Juliane Müller

http://www.w3.org/2001/XMLSchema#string

Katsiaryna Belaya

http://www.w3.org/2001/XMLSchema#string

Mohammed Zain Seidhamed

http://www.w3.org/2001/XMLSchema#string

Nicola Carboni

http://www.w3.org/2001/XMLSchema#string

Sarah Finlayson

http://www.w3.org/2001/XMLSchema#string

P2860

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij

dbSNP: the NCBI database of genetic variation

A map of human genome variation from population-scale sequencing

The human genome browser at UCSC

The generic genome browser: a building block for a model organism system database

The Sequence Alignment/Map format and SAMtools

Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.

Yeast mutants deficient in protein glycosylation.

Induction, assembly, maturation and maintenance of a postsynaptic apparatus

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944-956

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scholarly article

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10.1093/BRAIN/AWT010

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P433

Pt 3

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136

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Hanns Lochmüller

Jacqueline Palace

Simon J McGowan

Mustafa A. Salih

Katarzyna Zoltowska

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2013-02-11T00:00:00Z

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235604570

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23404334

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3580273

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