Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives
出版年份 2009 全文链接
标题
Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives
作者
关键词
-
出版物
ARQUIVOS DE NEURO-PSIQUIATRIA
Volume 67, Issue 2a, Pages 343-362
出版商
FapUNIFESP (SciELO)
发表日期
2009-06-19
DOI
10.1590/s0004-282x2009000200035
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。- LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
- (2009) J Oliveira et al. CLINICAL GENETICS
- Muscle Interstitial Fibroblasts Are the Main Source of Collagen VI Synthesis in Skeletal Muscle: Implications for Congenital Muscular Dystrophy Types Ullrich and Bethlem
- (2009) Yaqun Zou et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity
- (2008) Rishika A. Pace et al. ANNALS OF NEUROLOGY
- De novoLMNAmutations cause a new form of congenital muscular dystrophy
- (2008) Susana Quijano-Roy et al. ANNALS OF NEUROLOGY
- Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant
- (2008) Emma M. Clement et al. ARCHIVES OF NEUROLOGY
- Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy
- (2008) Alessia Angelin et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
- Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)
- (2008) Paul Thornhill et al. BRAIN
- Molecular Basis for the Role of Selenium in Muscle Development and Function
- (2008) Alain Lescure et al. CHEMISTRY & BIODIVERSITY
- Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance
- (2008) A.K. Lampe et al. HUMAN MUTATION
- Three Novel Collagen VI Chains with High Homology to the α3 Chain
- (2008) Sudheer Kumar Gara et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Synaptic Defects in a Drosophila Model of Congenital Muscular Dystrophy
- (2008) Y. P. Wairkar et al. JOURNAL OF NEUROSCIENCE
- Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes
- (2008) Genri Kawahara et al. MUSCLE & NERVE
- Gene table of monogenic neuromuscular disorder (nuclear genome only)
- (2008) NEUROMUSCULAR DISORDERS
- POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study
- (2008) S. Messina et al. NEUROMUSCULAR DISORDERS
- Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle
- (2008) M. J. Jurynec et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies
- (2008) Luciano Merlini et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- CD90-positive cells, an additional cell population, produce laminin α2 upon transplantation to dy3k/dy3k mice
- (2007) So-ichiro Fukada et al. EXPERIMENTAL CELL RESEARCH
- Bridging structure with function: Structural, regulatory, and developmental role of laminins
- (2007) Julia Tzu et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- Drug-induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes
- (2007) Valérie Allamand et al. JOURNAL OF GENE MEDICINE
- LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy
- (2007) Olfa Siala et al. NEUROMUSCULAR DISORDERS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started