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Inherited neuromuscular diseases : translation from pathomechanisms to therapies / Carmen Espinós, Vicente Felipo, Francesc Palau, editors.
Holman Biotech Commons R850.A1 A39 v.652 2009
Available
- Format:
- Book
- Conference/Event
- Conference Name:
- International Symposium on Rare Diseases (2008 : Valencia, Spain)
- Series:
- Advances in experimental medicine and biology ; v. 652.
- Advances in experimental medicine and biology
- Language:
- English
- Subjects (All):
- Neuromuscular Diseases.
- Genetic Diseases, Inborn.
- Musculoskeletal system--Diseases.
- Musculoskeletal system.
- Medical Subjects:
- Neuromuscular Diseases.
- Genetic Diseases, Inborn.
- Genre:
- Conference papers and proceedings.
- Physical Description:
- xiii, 304 pages : illustrations ; 26 cm.
- Place of Publication:
- Dordecht ; New York : Springer, [2009]
- Contents:
- Pathology and diagnosis of muscular dystrophies / Carmen Navarro, Susana Teijeira, Beatriz San Millán
- Standards of care for Duchenne muscular dystrophy : brief treat-NMD recommendations / Thomas Sejerson, Kate Bushby on behalf of the TREAT-EU Network of Excellence
- Genetics and pathogenesis 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.
- Notes:
- Includes bibliographical references and index.
- ISBN:
- 9789048128129
- 9048128129
- 9789048128136
- 9048128137
- OCLC:
- 401151193
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