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Espinós, Carmen

Inherited Neuromuscular Diseases

Espinós, Carmen - Inherited Neuromuscular Diseases, ebook

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ISBN: 9789048128136
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Table of contents

1. Pathology and Diagnosis of Muscular Dystrophies
Carmen Navarro, Susana Teijeira, Beatriz San Millán

2. Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations
Thomas Sejerson, Kate Bushby

3. Genetics and Pathogenesis of Distal Muscular Dystrophies
Bjarne Udd

4. Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results with Myozyme®

Samuel Ignacio Pascual Pascual

5. Diseases of the Human Mitochondrial Oxidative Phosphorylation System
Julio Montoya, Ester López-Gallardo, María Dolores Herrero-Martín, Íñigo Martínez-Romero, Aurora Gómez-Durán, David Pacheu, Magdalena Carreras, Carmen Díez-Sánchez, Manuel J. López-Pérez, Eduardo Ruiz-Pesini

6. Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes
Antonella Spinazzola, Massimo Zeviani

7. Mitochondrial Disorders Due to Nuclear OXPHOS Gene Defects
Cristina Ugalde, María Morán, Alberto Blázquez, Joaquín Arenas, Miguel A. Martín

8. Coenzyme Q10 Deficiencies in Neuromuscular Diseases
Rafael Artuch, Leonardo Salviati, Sandra Jackson, Michio Hirano, Plácido Navas

9. The Role of Mitochondrial Network Dynamics in the Pathogenesis of Charcot-Marie-Tooth Disease
Francesc Palau, Anna Estela, David Pla-Martín, Maribel Sánchez-Piris

10. Pathogenesis and Treatment of Mitochondrial Disorders
Salvatore DiMauro, Michio Hirano

11. Biology of Peripheral Inherited Neuropathies: Schwann Cell Axonal Interactions
Michael E. Shy

12. Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication
José Berciano, Antonio García, Elena Gallardo, César Ramón, Onofre Combarros

13. Genotypes & Sensory Phenotypes in 2 New X-Linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap Syndromes
Garth Nicholson, Marina Kennerson, Megan Brewer, James Garbern, Michael Shy

14. Natural History and Treatment of Peripheral Inherited Neuropathies
Davide Pareyson, Chiara Marchesi

15. Spinal Muscular Atrophy During Human Development: Where Are the Early Pathogenic Findings?
Eduardo Tizzano

16. Spinal Muscular Atrophy
Jérémie Vitte, Ruben Attali, Nasim Warwar, Irena Gurt, Judith Melki

17. Friedreich Ataxia: An Update on Animal Models, Frataxin Function and Therapies
Pilar González-Cabo, José Vicente Llorens, Francesc Palau, Maria Dolores Moltó

18. Genetics and Pathogenesis of Inherited Ataxias and Spastic Paraplegias
Carmen Espinós, Francesc Palau

Keywords: Biomedicine, Neurosciences, Human Genetics, Molecular Medicine, Human Physiology, Biomedicine general

Author(s)
 
 
Publisher
Springer
Publication year
2009
Language
en
Edition
1
Series
Advances in Experimental Medicine and Biology
Category
Medicine, Health Care, Mode
Format
Ebook
eISBN (PDF)
9789048128136

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