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03282nam a22005655i 4500 |
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978-90-481-2813-6 |
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DE-He213 |
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20151204144148.0 |
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cr nn 008mamaa |
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100715s2009 ne | s |||| 0|eng d |
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|a 9789048128136
|9 978-90-481-2813-6
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|a 10.1007/978-90-481-2813-6
|2 doi
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|d GrThAP
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|a RC321-580
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|2 23
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|a Inherited Neuromuscular Diseases
|h [electronic resource] :
|b Translation from Pathomechanisms to Therapies /
|c edited by Carmen Espinós, Vicente Felipo, Francesc Palau.
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| 264 |
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1 |
|a Dordrecht :
|b Springer Netherlands,
|c 2009.
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| 300 |
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|a XIII, 304 p.
|b online resource.
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|a text
|b txt
|2 rdacontent
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|a computer
|b c
|2 rdamedia
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|a online resource
|b cr
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|a text file
|b PDF
|2 rda
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1 |
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|a Advances in Experimental Medicine and Biology,
|x 0065-2598 ;
|v 652
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| 505 |
0 |
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|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.
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| 650 |
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0 |
|a Medicine.
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| 650 |
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|a Human genetics.
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| 650 |
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0 |
|a Human physiology.
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| 650 |
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0 |
|a Molecular biology.
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| 650 |
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0 |
|a Neurosciences.
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| 650 |
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|a Internal medicine.
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| 650 |
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|a Cell biology.
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| 650 |
1 |
4 |
|a Biomedicine.
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| 650 |
2 |
4 |
|a Neurosciences.
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| 650 |
2 |
4 |
|a Internal Medicine.
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| 650 |
2 |
4 |
|a Cell Biology.
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| 650 |
2 |
4 |
|a Human Genetics.
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| 650 |
2 |
4 |
|a Molecular Medicine.
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| 650 |
2 |
4 |
|a Human Physiology.
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| 700 |
1 |
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|a Espinós, Carmen.
|e editor.
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| 700 |
1 |
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|a Felipo, Vicente.
|e editor.
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| 700 |
1 |
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|a Palau, Francesc.
|e editor.
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| 710 |
2 |
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|a SpringerLink (Online service)
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| 773 |
0 |
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|t Springer eBooks
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| 776 |
0 |
8 |
|i Printed edition:
|z 9789048128129
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| 830 |
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0 |
|a Advances in Experimental Medicine and Biology,
|x 0065-2598 ;
|v 652
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| 856 |
4 |
0 |
|u http://dx.doi.org/10.1007/978-90-481-2813-6
|z Full Text via HEAL-Link
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| 912 |
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|a ZDB-2-SBL
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| 950 |
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|a Biomedical and Life Sciences (Springer-11642)
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