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020 _a9789048128136
_99789048128136
024 7 _a10.1007/9789048128136
_2doi
035 _avtls000365162
039 9 _a201509030710
_bVLOAD
_c201405070408
_dVLOAD
_y201402211245
_zstaff
040 _aMX-SnUAN
_bspa
_cMX-SnUAN
_erda
050 4 _aRC321-580
100 1 _aEspinós, Carmen.
_eeditor.
_9350950
245 1 0 _aInherited Neuromuscular Diseases :
_bTranslation from Pathomechanisms to Therapies /
_cedited by Carmen Espinós, Vicente Felipo, Francesc Palau.
264 1 _aDordrecht :
_bSpringer Netherlands,
_c2009.
300 _axiii, 304 páginas
_brecurso en línea.
336 _atexto
_btxt
_2rdacontent
337 _acomputadora
_bc
_2rdamedia
338 _arecurso en línea
_bcr
_2rdacarrier
347 _aarchivo de texto
_bPDF
_2rda
490 0 _aAdvances in Experimental Medicine and Biology,
_x0065-2598 ;
_v652
500 _aSpringer eBooks
505 0 _aPathology 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.
520 _aThis book represents the state of the art of neuromuscular diseases as a whole, including muscular dystrophies, mitochondrial disorders, peripheral neuropathies, spinal muscular atrophy, motoneurone disease and Friedreich ataxia. It offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments. Many genes with neuromuscular disorders have been reported, confirming the wide genetic heterogeneity of most of diseases of the peripheral nervous system. Genetic analyses allow the unequivocal diagnosis of neonatal, paediatric and adult disease whose etiology has a genetic basis, thus providing a more accurate prediction of natural history and prognosis, and reproductive planning for the family, not only offering genetic counselling and prenatal diagnosis but also preimplantational genetic diagnosis. Moreover, for a number of them molecular and cell pathogenesis is suggesting new molecular targets and, more relevant, novel therapeutic approaches are currently developing to manage and treat these disorders including new drugs and gene and cellular therapies. This is a reference book for neurologists and researchers interested in genetics, cellular biology, pathomechanisms, therapies and treatments of neuropathies.
590 _aPara consulta fuera de la UANL se requiere clave de acceso remoto.
700 1 _aFelipo, Vicente.
_eeditor.
_9308950
700 1 _aPalau, Francesc.
_eeditor.
_9350951
710 2 _aSpringerLink (Servicio en línea)
_9299170
776 0 8 _iEdición impresa:
_z9789048128129
856 4 0 _uhttp://remoto.dgb.uanl.mx/login?url=http://dx.doi.org/10.1007/978-90-481-2813-6
_zConectar a Springer E-Books (Para consulta externa se requiere previa autentificación en Biblioteca Digital UANL)
942 _c14
999 _c310283
_d310283