Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome-Reference-Cited by-同舟云学术

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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Published:2014-04 Issue:4 Volume:24 Page:353-359
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Monies Dorota M.,Al-Hindi Hindi N.,Al-Muhaizea Mohamed A.,Jaroudi Dyala J.,Al-Younes Banan,Naim Ewa A.,Wakil Salma M.,Meyer Brian F.,Bohlega Saeed

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference23 articles.

1. Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!;Jaeken;J Inherit Metab Dis,2011

2. Congenital disorders of glycosylation;Jaeken;Annu Rev Genomics Hum Genet,2001

3. The expanding horizons of asparagine-linked glycosylation;Larkin;Biochemistry,2011

4. Genetic defects in the human glycome;Freeze;Nat Rev Genet,2006

5. Komrower lecture. Congenital disorders of glycosylation (CDG): it’s all in it!;Jaeken;J Inherit Metab Dis,2003

Cited by 27 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker;Frontiers in Genetics;2024-05-06

2. Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation;International Journal of Molecular Sciences;2024-01-18

3. Splicing regulation of GFPT1 muscle-specific isoform and its roles in glucose metabolisms and neuromuscular junction;iScience;2023-10

4. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review;International Journal of Molecular Sciences;2023-02-13

5. Daam2 Regulates Myelin Structure and the Oligodendrocyte Actin Cytoskeleton through Rac1 and Gelsolin;The Journal of Neuroscience;2022-01-31

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