MARC Record from Library of Congress

LEADER: 04195cam a2200445 a 4500
001 2009936205
003 DLC
005 20101231083125.0
008 090902s2009 ne a b 101 0 eng c
010 $a 2009936205
015 $a993988350$2dnb
016 7 $a101522042$2DNLM
016 7 $a20688948$2bccb
020 $a9789048128129 (alk. paper)
020 $a9048128129 (alk. paper)
020 $a9789048128136 (e-ISBN)
020 $a9048128137 (e-ISBN)
035 $a(OCoLC)ocn401151193
040 $aNLM$cNLM$dBTCTA$dOHX$dNLGGC$dCDX$dFUH$dCHS$dYDXCP$dGBVCP$dIXA$dGEBAY$dDLC
042 $apcc
050 00 $aRC925$b.I64 2009
060 00 $aW1$bAD559 v.652 2009
060 10 $aWE 550$bI685i 2009
111 2 $aInternational Symposium on Rare Diseases$d(2008 :$cValencia, Spain)
245 10 $aInherited neuromuscular diseases :$btranslation from pathomechanisms to therapies /$c[edited by] Carmen Espinós, Vicente Felipo, Francesc Palau.
260 $aDordecht ;$aNew York :$bSpringer,$cc2009.
300 $axiii, 304 p. :$bill. ;$c24 cm.
490 1 $aAdvances in experimental medicine and biology,$x0065-2598 ;$vv. 652
504 $aIncludes bibliographical references and index.
505 1 $aPathology and diagnosis of muscular dystrophies / Carmen Navarro, Susana Teijeira, Beatriz San Millán -- Standards of care for Duehenne muscular dystrophy : brief treat-NMD recommendations / Thomas Sejerson, Kate Bushby on behalf of the TREAT-EU Network of Excellence -- Genetics and pahtogenesis of distal muscular dystrophies / Bjarne Udd -- Phenotype variations in early onset Pompe disease : diagnosis and treatment results with Myozyme® / Samuel Ignacio Pascual Pascual -- 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 Diéz-Sánchez, Manuel J. López-Pérez, Eduardo Ruiz-Pesini -- Mitochondrial diseases : a cross-talk between mitrochondrial and nuclear genomes / Antonella Spinazzola, Massimo Zeviani -- Mitochondrial disorders due to nuclear OXPHOS gene defects / Cristina Ugalde, María Morán, Alberto Blázquez, Joaquín Arenas, Miguel A. Martín -- Coenzyme Q10 deficiencies in neuromuscular diseases / Rafael Artuch, Leonardo Salviati, Sandra Jackson, Michio Hirano, Plácido Navas -- The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease / Francesc Palau, Anna Estela, David Pla-Martín, Maribel Sánchez-Piris -- Pathogenesis and treatment of mitochondrial disorders / Salvatore DiMauro, Michio Hirano -- Biology of peripheral inherited neuropathies : Schwann cell axonal interactions / Michael E. Shy -- Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication / José Berciano, Antonio García, Elena Gallardo, César Ramón, Onofre Combarros -- Genotypes & sensory pheotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes / Garth Nichoson, Marina Kennerson, Megan Brewer, James Garbern, Michael Shy -- Natural history and treatment of peripheral inherited neuropathies / Davide Pareyson, Chiara Marchesi -- Spinal muscular atrophy during human development : where are the early pathogenic findings? / Eduardo Tizzano -- Spinal muscular atrophy / Jérémie Vitte, Ruben Attali, Nasim Warwar, Irena Gurt, Judith Melki -- Friedreich ataxia : an update on animal models, frataxin function and therapies / Pilar González-Cabo, José Vicente Llorens, Francesc Palau, Maria Dolores Moltó -- Genetics and pathogenesis of inherited ataxias and spastic paraplegias / Carmen Espinós, Francesc Palau.
650 0 $aMusculoskeletal system$xDiseases.
650 12 $aNeuromuscular Diseases$vCongresses.
650 22 $aGenetic Diseases, Inborn$vCongresses.
650 07 $aNeuromuskuläre Krankheit$2swd
650 07 $aAngeborene Krankheit$2swd
651 7 $aValencia$2swd
700 1 $aEspinós, Carmen.
700 1 $aFelipo, Vicente.
700 1 $aPalau, Francesc.
830 0 $aAdvances in experimental medicine and biology,$vv. 652.$x0065-2598 ;