Espinós, Carmen
Inherited Neuromuscular Diseases
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 Q
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
Avainsanat: Biomedicine, Neurosciences, Human Genetics, Molecular Medicine, Human Physiology, Biomedicine general
- Tekijä(t)
- Espinós, Carmen
- Felipo, Vicente
- Palau, Francesc
- Julkaisija
- Springer
- Julkaisuvuosi
- 2009
- Kieli
- en
- Painos
- 1
- Sarja
- Advances in Experimental Medicine and Biology
- Sivumäärä
- 13 sivua
- Kategoria
- Terveys, kauneus, muoti
- Tiedostomuoto
- E-kirja
- eISBN (PDF)
- 9789048128136