Inherited Neuromuscular Diseases Translation from Pathomechanisms to Therapies /

• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Άλλοι συγγραφείς: Espinós, Carmen (Επιμελητής έκδοσης), Felipo, Vicente (Επιμελητής έκδοσης), Palau, Francesc (Επιμελητής έκδοσης)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Dordrecht : Springer Netherlands, 2009.
• Σειρά: Advances in Experimental Medicine and Biology, 652
• Θέματα: Medicine.; Human genetics.; Human physiology.; Molecular biology.; Neurosciences.; Internal medicine.; Cell biology.; Biomedicine.; Internal Medicine.; Cell Biology.; Human Genetics.; Molecular Medicine.; Human Physiology.

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• Diseases of the Human Mitochondrial Oxidative Phosphorylation System
• Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes
• Mitochondrial Disorders Due to Nuclear OXPHOS Gene Defects
• Coenzyme Q10 Deficiencies in Neuromuscular Diseases
• The Role of Mitochondrial Network Dynamics in the Pathogenesis of Charcot-Marie-Tooth Disease
• Pathogenesis and Treatment of Mitochondrial Disorders
• Biology of Peripheral Inherited Neuropathies: Schwann Cell Axonal Interactions
• Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication
• Genotypes & Sensory Phenotypes in 2 New X-Linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap Syndromes
• Natural History and Treatment of Peripheral Inherited Neuropathies
• Spinal Muscular Atrophy During Human Development: Where Are the Early Pathogenic Findings?
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• Friedreich Ataxia: An Update on Animal Models, Frataxin Function and Therapies
• Genetics and Pathogenesis of Inherited Ataxias and Spastic Paraplegias.