Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder involving slowly progressive muscle degeneration in which the muscles of the face, shoulder blades and upper arms are among the most severely affected. It is the third most common inherited muscular dystrophy, affecting 1 in 20,000. The search for the molecular basis of the disease is of interest to all genetic researchers, involving a deletion outside a coding region resulting in over-expression of adjacent genes. This volume summarizes the current understanding of the disorder, including clinical, molecular and therapeutic aspects.
David N. Cooper, M. Upadhyaya, Meena Upadhyaya
- Download Facioscapulohumeral Muscular Dystrophy (FSHD) – David Cooper, Meena Upadhhyaya pdf
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder involving slowly progressive muscle degeneration in which the muscles of the face, shoulder blades and upper arms are among the most severely affected. It is the third most common inherited muscular dystrophy, […]
- Download Muscular Dystrophy: Methods and Protocols – Katherine Bushby, Louise Anderson, Katharine M. D. Bushby pdf
The term muscular dystrophy (MD) describes a group of primary genetic disorders of muscle that often have a distinctive and recognizable clinical p- notype, accompanied by characteristic, but frequently not pathognomonic, pathological features. Research into the molecular basis of the […]
- Download Molecular and Cell Biology of Muscular Dystrophy – Terence Partridge, T. Partridge pdf
Molecular and Cell Biology of Muscular Dystrophy gives a series of accounts of various aspects of the remarkable breakthrough which has been achieved in our understanding of the Duchenne/Becker muscular dystrophies and of the consequences and ramifications of this breakthrough.
- Download Cell-Cycle Mechanisms In Neuronal Cell Death – Agata Copani, Ferdinando Nicoletti, Agata Copani pdf
"Cell-Cycle Mechanisms and Neuronal Cell Death" examines the role of cell cycle activation in the molecular mechanisms leading to neuronal degeneration. Leading authors discuss this topic in relation to the major neurological disorders, including Alzheimer's disease, stroke and […]
- Download Bone Research Protocols – Miep H. Helfrich, Stuart H. Ralston, Miep H. Helfrich pdf
The last decade has seen a tremendous advance in our understanding of bone biology. The genes responsible for the majority of rare inherited bone disorders have been identified and much progress has been made in the identification of genes in polygenic disorders such as Paget's […]
- Download The Molecular Basis of Skeletogenesis – Novartis Foundation Symposium, Gail Cardew, Jamie A. Goode pdf
This book brings together a cross-fertilization of ideas between human molecular genetics, developmental biology, tissue biology and the biochemistry of cell signalling pathways, in order to create new insights into the mechanisms of normal and abnormal skeletogenesis. This broad […]