Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. - Test2 - elhamkhani - TriplyDB

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

http://www.wikidata.org/entity/Q34560899

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New horizons for congenital myasthenic syndromes 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 Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect.The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases Neurology of inherited glycosylation disorders.Congenital myasthenic syndromes in 2012.Current status of the congenital myasthenic syndromes.Identification of Driving ALK Fusion Genes and Genomic Landscape of Medullary Thyroid Cancer 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.Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome 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 Understanding human glycosylation disorders: biochemistry leads the charge.Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations.Synaptic dysfunction in congenital myasthenic syndromes.Solving glycosylation disorders: fundamental approaches reveal complicated pathways.The role of protein N-glycosylation in neural transmission Inherited disorders of the neuromuscular junction: an update.A Genetic Model to Study Increased Hexosamine Biosynthetic Flux.Functional consequences and structural interpretation of mutations of human choline acetyltransferase.A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.N-glycosylation in regulation of the nervous system.Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.Defective GFPT1 causes CMSTA1 Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes.Clinical and research strategies for limb-girdle congenital myasthenic syndromes.

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P2860

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

http://www.wikidata.org/entity/Q34560899

description

2011 nî lūn-bûn

@nan

2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի փետրվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

@ast

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

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Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

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type

label

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

@ast

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

@en

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

@nl

prefLabel

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

@ast

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

@en

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

@nl

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J.AJHG.2011.01.008

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American Journal of Human Genetics

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Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

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Anders Oldfors

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Andoni Urtizberea

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Andres Nascimento

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Angela Hübner

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Ariana Kariminejad

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Beate Schlotter

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Bita Bozorgmehr

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Cecilia Jimenez Mallebrera

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Christopher Lindbergh

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David Beeson

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P2860

cDNA cloning and mapping of a novel subtype of glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human and mouse

Predicting deleterious amino acid substitutions

The emerging diversity of neuromuscular junction disorders

To build a synapse: signaling pathways in neuromuscular junction assembly

Structural analysis of human glutamine:fructose-6-phosphate amidotransferase, a key regulator in type 2 diabetes

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

Stages of embryonic development of the zebrafish

A novel variant of glutamine: fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle

Induction, assembly, maturation and maintenance of a postsynaptic apparatus

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162-172

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10.1016/J.AJHG.2011.01.008

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2

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88

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Hanns Lochmüller

Janbernd Kirschner

Jacqueline Palace

Hossein Najmabadi

Benedikt Schoser

Shahriar Nafissi

Juan J. Vílchez

Carmelo Rodolico

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2011-02-01T00:00:00Z

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