标题
Congenital myasthenic syndromes due to mutations inALG2andALG14
作者
关键词
-
出版物
BRAIN
Volume 136, Issue 3, Pages 944-956
出版商
Oxford University Press (OUP)
发表日期
2013-02-13
DOI
10.1093/brain/awt010
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates
- (2012) Katsiaryna Belaya et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease
- (2012) A.E. Würde et al. MOLECULAR GENETICS AND METABOLISM
- 186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands
- (2012) Amina Chaouch et al. NEUROMUSCULAR DISORDERS
- Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect
- (2011) Jan Senderek et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Expanding Horizons of Asparagine-Linked Glycosylation
- (2011) Angelyn Larkin et al. BIOCHEMISTRY
- Alg14 organizes the formation of a multiglycosyltransferase complex involved in initiation of lipid-linked oligosaccharide biosynthesis
- (2011) J. Lu et al. GLYCOBIOLOGY
- Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!
- (2011) Jaak Jaeken JOURNAL OF INHERITED METABOLIC DISEASE
- Current status of the congenital myasthenic syndromes
- (2011) Andrew G. Engel NEUROMUSCULAR DISORDERS
- Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads
- (2010) G. Lunter et al. GENOME RESEARCH
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Structure, Expression, and Regulation of UDP-GlcNAc: Dolichol Phosphate GlcNAc-1-Phosphate Transferase (DPAGT1)
- (2009) Roger Bretthauer CURRENT DRUG TARGETS
- Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides
- (2009) Micha A. Haeuptle et al. HUMAN MUTATION
- Interaction between the C Termini of Alg13 and Alg14 Mediates Formation of the Active UDP-N-acetylglucosamine Transferase Complex
- (2008) Xiao-Dong Gao et al. JOURNAL OF BIOLOGICAL CHEMISTRY
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started