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Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Domínguez-González, Cristina; Madruga-Garrido, Marcos; Mavillard, Fabiola; Garone, Caterina; Aguirre-Rodríguez, Francisco Javier; Donati, M Alice; Kleinsteuber, Karin; Martí, Itxaso; Martín-Hernández, Elena; Morealejo-Aycinena, Juan P; Munell, Francina; Nascimento, Andrés; Kalko, Susana G; Sardina, M Dolores; Álvarez Del Vayo, Concepcion; Serrano, Olga; Long, Yuelin; Tu, Yuqi; Levin, Bruce; Thompson, John L P; Engelstad, Kristen; Uddin, Jasim; Torres-Torronteras, Javier; Jimenez-Mallebrera, Cecilia; Martí, Ramon; Paradas, Carmen; Hirano, Michio.
Afiliação
  • Domínguez-González C; Neuromuscular Disorders Unit, Neurology Department, Hospital 12 de Octubre, Madrid, Spain.
  • Madruga-Garrido M; Instituto de Investigación i + 12, Hospital 12 de Octubre, Madrid, Spain.
  • Mavillard F; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Garone C; Neuromuscular Disorders Unit, Pediatric Neurology Department, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, Consejo Superior de Investigaciones Científicas, University of Seville, Seville, Spain.
  • Aguirre-Rodríguez FJ; Neuromuscular Disorders Unit, Neurology Department, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, Consejo Superior de Investigaciones Científicas, University of Seville, Seville, Spain.
  • Donati MA; Center for Biomedical Network Research on Neurodegenerative Diseases, Instituto de Salud Carlos III, Madrid, Spain.
  • Kleinsteuber K; Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK.
  • Martí I; Department of Pediatric Neurology, Torrecardenas Hospital Complex, Almeria, Spain.
  • Martín-Hernández E; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy.
  • Morealejo-Aycinena JP; Pediatric Neurology Department, Faculty of Medicine, University of Chile, Las Condes Clinic, Santiago, Chile.
  • Munell F; Pediatric Neurology Department, Donostia University Hospital, San Sebastian, Spain.
  • Nascimento A; Instituto de Investigación i + 12, Hospital 12 de Octubre, Madrid, Spain.
  • Kalko SG; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Sardina MD; Hereditary Metabolic and Mitochondrial Disorders Unit, Pediatric Department, October 12 Hospital, Madrid, Spain.
  • Álvarez Del Vayo C; Hospital of Guatemala, Guatemala City, Guatemala.
  • Serrano O; Pediatric Department, Vall d'Hebron Hospital, Barcelona, Spain.
  • Long Y; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Tu Y; Neuromuscular Unit, Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona, Spain.
  • Levin B; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Thompson JLP; Neuromuscular Unit, Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona, Spain.
  • Engelstad K; Pediatric Neurology Department, Badajoz Hospital Complex, Badajoz, Spain.
  • Uddin J; Center for Biomedical Network Research on Neurodegenerative Diseases, Instituto de Salud Carlos III, Madrid, Spain.
  • Torres-Torronteras J; Pharmacy Department, Virgin of el Rocío University Hospital, Seville, Spain.
  • Jimenez-Mallebrera C; Pharmacy Department, October 12 Hospital, Madrid, Spain.
  • Martí R; Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center, New York, NY.
  • Paradas C; Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center, New York, NY.
  • Hirano M; Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center, New York, NY.
Ann Neurol ; 86(2): 293-303, 2019 08.
Article em En | MEDLINE | ID: mdl-31125140

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Timidina Quinase / Desoxirribonucleosídeos / Ensaios de Uso Compassivo / Doenças Musculares Tipo de estudo: Clinical_trials Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Espanha País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Timidina Quinase / Desoxirribonucleosídeos / Ensaios de Uso Compassivo / Doenças Musculares Tipo de estudo: Clinical_trials Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Espanha País de publicação: Estados Unidos