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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, 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. |
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