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100715s2009 ne | s |||| 0|eng d |
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|a 9789048128136
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| 024 |
7 |
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|a 10.1007/978-90-481-2813-6
|2 doi
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| 040 |
|
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|a Sistema de Bibliotecas del Tecnológico de Costa Rica
|
| 245 |
1 |
0 |
|a Inherited Neuromuscular Diseases :
|b Translation from Pathomechanisms to Therapies /
|c edited by Carmen Espinós, Vicente Felipo, Francesc Palau.
|
| 250 |
|
|
|a 1st ed. 2009.
|
| 260 |
# |
# |
|a Dordrecht :
|b Springer Netherlands :
|b Imprint: Springer,
|c 2009.
|
| 300 |
|
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|a XIII, 304 p. :
|b online resource.
|
| 336 |
|
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|a text
|b txt
|2 rdacontent
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| 337 |
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|a computer
|b c
|2 rdamedia
|
| 338 |
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|a online resource
|b cr
|2 rdacarrier
|
| 490 |
1 |
|
|a Advances in Experimental Medicine and Biology,
|v 652
|
| 505 |
0 |
|
|a Pathology and Diagnosis of Muscular Dystrophies -- Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations -- Genetics and Pathogenesis of Distal Muscular Dystrophies -- Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results with Myozyme® -- 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? -- Spinal Muscular Atrophy -- Friedreich Ataxia: An Update on Animal Models, Frataxin Function and Therapies -- Genetics and Pathogenesis of Inherited Ataxias and Spastic Paraplegias.
|
| 650 |
|
0 |
|a Neurosciences.
|
| 650 |
|
0 |
|a Internal medicine.
|
| 650 |
|
0 |
|a Cell biology.
|
| 650 |
|
0 |
|a Human genetics.
|
| 650 |
|
0 |
|a Molecular biology.
|
| 650 |
|
0 |
|a Human physiology.
|
| 650 |
1 |
4 |
|a Neurosciences.
|
| 650 |
2 |
4 |
|a Internal Medicine.
|
| 650 |
2 |
4 |
|a Cell Biology.
|
| 650 |
2 |
4 |
|a Human Genetics.
|
| 650 |
2 |
4 |
|a Molecular Medicine.
|
| 650 |
2 |
4 |
|a Human Physiology.
|
| 700 |
1 |
|
|a Espinós, Carmen.
|e editor.
|
| 700 |
1 |
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|a Felipo, Vicente.
|e editor.
|
| 700 |
1 |
|
|a Palau, Francesc.
|e editor.
|
| 710 |
2 |
|
|a SpringerLink (Online service)
|
| 773 |
0 |
|
|t Springer eBooks
|