标题
The collagen VI-related myopathies: muscle meets its matrix
作者
关键词
-
出版物
Nature Reviews Neurology
Volume 7, Issue 7, Pages 379-390
出版商
Springer Nature
发表日期
2011-06-21
DOI
10.1038/nrneurol.2011.81
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。- Early onset collagen VI myopathies: Genetic and clinical correlations
- (2010) Laura Briñas et al. ANNALS OF NEUROLOGY
- Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
- (2010) Matteo Bovolenta et al. BMC Medical Genetics
- Congenital Muscular Dystrophies: Toward Molecular Therapeutic Interventions
- (2010) James Collins et al. Current Neurology and Neuroscience Reports
- Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy
- (2010) Rui-Zhu Zhang et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Consensus Statement on Standard of Care for Congenital Muscular Dystrophies
- (2010) Ching H. Wang et al. JOURNAL OF CHILD NEUROLOGY
- Expression of the Collagen VI α5 and α6 Chains in Normal Human Skin and in Skin of Patients with Collagen VI-Related Myopathies
- (2010) Patrizia Sabatelli et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration
- (2010) Paolo Grumati et al. NATURE MEDICINE
- 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22–24 May 2009, Naarden, The Netherlands
- (2010) Valérie Allamand et al. NEUROMUSCULAR DISORDERS
- Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern
- (2010) N. Deconinck et al. NEUROMUSCULAR DISORDERS
- Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome
- (2009) N.C. Voermans et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine
- (2009) Eugenio Mercuri et al. ANNALS OF NEUROLOGY
- Developmental and osteoarthritic changes inCol6a1-knockout mice: Biomechanics of type VI collagen in the cartilage pericellular matrix
- (2009) Leonidas G. Alexopoulos et al. ARTHRITIS AND RHEUMATISM
- Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
- (2009) Fiona L. M. Norwood et al. BRAIN
- The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects inCol6a1−/−myopathic mice
- (2009) T Tiepolo et al. BRITISH JOURNAL OF PHARMACOLOGY
- Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice
- (2009) Elena Palma et al. HUMAN MOLECULAR GENETICS
- Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies
- (2009) N. C. Voermans et al. JOURNAL OF NEUROLOGY
- 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
- Autosomal recessive Bethlem myopathy
- (2009) F. Gualandi et al. NEUROLOGY
- Natural history of Ullrich congenital muscular dystrophy
- (2009) A. Nadeau et al. NEUROLOGY
- Autosomal recessive inheritance of classic Bethlem myopathy
- (2009) A. Reghan Foley et al. NEUROMUSCULAR DISORDERS
- 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
- Anoikis: A necessary death program for anchorage-dependent cells
- (2008) Paola Chiarugi et al. BIOCHEMICAL PHARMACOLOGY
- Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy
- (2008) Alessia Angelin et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
- Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue
- (2008) D. Hicks et al. BRAIN
- An enhancer required for transcription of the Col6a1 gene in muscle connective tissue is induced by signals released from muscle cells
- (2008) Paola Braghetta et al. EXPERIMENTAL CELL RESEARCH
- 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, α4(VI), α5(VI), and α6(VI)
- (2008) Jamie Fitzgerald et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Three Novel Collagen VI Chains with High Homology to the α3 Chain
- (2008) Sudheer Kumar Gara et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes
- (2008) Genri Kawahara et al. MUSCLE & NERVE
- Predominant fiber atrophy and fiber type disproportion in early ullrich disease
- (2008) Joachim Schessl et al. MUSCLE & NERVE
- Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy
- (2008) Douglas P Millay et al. NATURE MEDICINE
- A refined diagnostic algorithm for Bethlem myopathy
- (2008) D. Hicks et al. NEUROLOGY
- Autosomal recessive myosclerosis myopathy is a collagen VI disorder
- (2008) L. Merlini et al. NEUROLOGY
- Clinical and molecular overlap between myopathies and inherited connective tissue diseases
- (2008) N.C. Voermans et al. NEUROMUSCULAR DISORDERS
- 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
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