Clinical, Pathologic, and Mutational Spectrum of Dystroglycanopathy Caused byLARGEMutations
出版年份 2014 全文链接
标题
Clinical, Pathologic, and Mutational Spectrum of Dystroglycanopathy Caused byLARGEMutations
作者
关键词
-
出版物
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
Volume 73, Issue 5, Pages 425-441
出版商
Oxford University Press (OUP)
发表日期
2014-04-08
DOI
10.1097/nen.0000000000000065
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 B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
- (2013) Elizabeth Stevens et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
- (2013) Keren J. Carss et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome
- (2013) Karen Buysse et al. HUMAN MOLECULAR GENETICS
- Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry
- (2013) L. T. Jae et al. SCIENCE
- Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
- (2012) M. Chiara Manzini et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly
- (2012) Sandrine Vuillaumier-Barrot et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
- (2012) Louise Devisme et al. BRAIN
- Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
- (2012) Tony Roscioli et al. NATURE GENETICS
- ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
- (2012) Tobias Willer et al. NATURE GENETICS
- The inside and out of dystroglycan post-translational modification
- (2012) Chris J. Moore et al. NEUROMUSCULAR DISORDERS
- Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008
- (2012) E.M. Clement et al. NEUROMUSCULAR DISORDERS
- Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE
- (2012) K.-i. Inamori et al. SCIENCE
- The dystrophin–glycoprotein complex in brain development and disease
- (2012) Adrian Waite et al. TRENDS IN NEUROSCIENCES
- Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene
- (2011) Nigel F Clarke et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Polymicrogyria Includes Fusion of the Molecular Layer and Decreased Neuronal Populations But Normal Cortical Laminar Organization
- (2011) Alexander R. Judkins et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies
- (2011) S. Vuillaumier-Barrot et al. NEUROMUSCULAR DISORDERS
- A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy
- (2011) Yuji Hara et al. NEW ENGLAND JOURNAL OF MEDICINE
- Transgenic Overexpression of LARGE Induces α-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle
- (2010) Martin Brockington et al. PLoS One
- O-Mannosyl Phosphorylation of Alpha-Dystroglycan Is Required for Laminin Binding
- (2010) T. Yoshida-Moriguchi et al. SCIENCE
- Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study
- (2009) E. Mercuri et al. NEUROLOGY
- Aberrant development of neuromuscular junctions in glycosylation-defective Largemyd mice
- (2009) Ruth Herbst et al. NEUROMUSCULAR DISORDERS
- Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
- (2008) Emma Clement et al. ANNALS OF NEUROLOGY
- Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy
- (2008) Motoi Kanagawa et al. HUMAN MOLECULAR GENETICS
- Midbrain-hindbrain involvement in lissencephalies
- (2008) P. Jissendi-Tchofo et al. NEUROLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk 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