Coverart for item
The Resource Inherited neuromuscular diseases : translation from pathomechanisms to therapies, [edited by] Carmen Espinós, Vicente Felipo, Francesc Palau

Inherited neuromuscular diseases : translation from pathomechanisms to therapies, [edited by] Carmen Espinós, Vicente Felipo, Francesc Palau

Label
Inherited neuromuscular diseases : translation from pathomechanisms to therapies
Title
Inherited neuromuscular diseases
Title remainder
translation from pathomechanisms to therapies
Statement of responsibility
[edited by] Carmen Espinós, Vicente Felipo, Francesc Palau
Creator
Contributor
Subject
Genre
Language
eng
Member of
Cataloging source
NLM
Illustrations
illustrations
Index
index present
LC call number
RC925
Literary form
non fiction
http://bibfra.me/vocab/lite/meetingDate
2008
http://bibfra.me/vocab/lite/meetingName
International Symposium on Rare Diseases
Nature of contents
bibliography
NLM call number
WE 550
NLM item number
I685i 2009
http://library.link/vocab/relatedWorkOrContributorName
  • Espinós, Carmen
  • Felipo, Vicente
  • Palau, Francesc
Series statement
Advances in experimental medicine and biology,
Series volume
v. 652
http://library.link/vocab/subjectName
  • Musculoskeletal system
  • Neuromuscular Diseases
  • Genetic Diseases, Inborn
Label
Inherited neuromuscular diseases : translation from pathomechanisms to therapies, [edited by] Carmen Espinós, Vicente Felipo, Francesc Palau
Instantiates
Publication
Note
"This volume contains the text of the presentations delivered at the International Symposium on Rare Diseases ... held in Valencia, Spain, from November 16 to 18, 2008."--pref
Bibliography note
Includes bibliographical references and index
Carrier category
volume
Carrier category code
  • nc
Carrier MARC source
rdacarrier
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
Pathology 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 .. [et al.] -- Mitochondrial diseases : a cross-talk between mitrochondrial and nuclear genomes / Antonella Spinazzola, Massimo Zeviani -- Mitochondrial disorders due to nuclear OXPHOS gene defects / Cristina Ugalde ... [et al.] -- Coenzyme Q10 deficiencies in neuromuscular diseases / Rafael Artuch ... [et al.] -- The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease / Francesc Palau ... [et al.] -- 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 ... [et al.] -- Genotypes & sensory pheotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes / Garth Nichoson ... [et al.] -- 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 ... [et al.] -- Friedreich ataxia : an update on animal models, frataxin function and therapies / Pilar González-Cabo ... [et al.] -- Genetics and pathogenesis of inherited ataxias and spastic paraplegias / Carmen Espinós, Francesc Palau
Control code
401151193
Dimensions
24 cm
Extent
xiii, 304 pages
Isbn
9789048128136
Isbn Type
(e-ISBN)
Lccn
2009936205
Media category
unmediated
Media MARC source
rdamedia
Media type code
  • n
Other physical details
illustrations
System control number
(OCoLC)401151193
Label
Inherited neuromuscular diseases : translation from pathomechanisms to therapies, [edited by] Carmen Espinós, Vicente Felipo, Francesc Palau
Publication
Note
"This volume contains the text of the presentations delivered at the International Symposium on Rare Diseases ... held in Valencia, Spain, from November 16 to 18, 2008."--pref
Bibliography note
Includes bibliographical references and index
Carrier category
volume
Carrier category code
  • nc
Carrier MARC source
rdacarrier
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
Pathology 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 .. [et al.] -- Mitochondrial diseases : a cross-talk between mitrochondrial and nuclear genomes / Antonella Spinazzola, Massimo Zeviani -- Mitochondrial disorders due to nuclear OXPHOS gene defects / Cristina Ugalde ... [et al.] -- Coenzyme Q10 deficiencies in neuromuscular diseases / Rafael Artuch ... [et al.] -- The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease / Francesc Palau ... [et al.] -- 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 ... [et al.] -- Genotypes & sensory pheotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes / Garth Nichoson ... [et al.] -- 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 ... [et al.] -- Friedreich ataxia : an update on animal models, frataxin function and therapies / Pilar González-Cabo ... [et al.] -- Genetics and pathogenesis of inherited ataxias and spastic paraplegias / Carmen Espinós, Francesc Palau
Control code
401151193
Dimensions
24 cm
Extent
xiii, 304 pages
Isbn
9789048128136
Isbn Type
(e-ISBN)
Lccn
2009936205
Media category
unmediated
Media MARC source
rdamedia
Media type code
  • n
Other physical details
illustrations
System control number
(OCoLC)401151193

Library Locations

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      1 Hospital Dr, Columbia, MO, 65201, US
      38.939544 -92.328377
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