Resultados globales: 6 registros encontrados en 0.03 segundos.
Artículos, Encontrados 6 registros
Artículos Encontrados 6 registros  
1.
13 p, 1.1 MB Are Women's Empowerment and Income Inequality Associated with Excess Weight in Latin American Cities? / Tumas, Natalia (Centro de Investigaciones y Estudios sobre Cultura y Sociedad, Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) y Universidad Nacional de Córdoba) ; Rodríguez López, Santiago (Universidad Nacional de Córdoba) ; Mazariegos, Mónica (Institute of Nutrition of Central America and Panama) ; Ortigoza, Ana (Drexel University) ; Anza Ramírez, Cecilia (Universidad Peruana Cayetano Heredia) ; Pérez Ferrer, Carolina (National Institute of Public Health) ; Moore, Kari (Drexel University) ; Yamada, Goro (Drexel University) ; Menezes, Mariana Carvalho (Universidade Federal de Ouro Preto) ; Sarmiento, Olga L. (Universidad de los Andes) ; Pericàs, Juan M. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Belvis Costes, Francesc (Universitat Pompeu Fabra) ; Lazo, Mariana (Drexel University) ; Benach, Joan (Universidad Autónoma de Madrid) ; Universitat Autònoma de Barcelona
The online version contains supplementary material available at 10. 1007/s11524-022-00689-5.
2022 - 10.1007/s11524-022-00689-5
Journal of urban health, Vol. 99 (november 2022) , p. 1091-1103  
2.
14 p, 1.5 MB The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders / Pérez-Dueñas, Belén (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Gorman, Kathleen. (Great Ormond Street Hospital for Children (Londres)) ; Marcé-Grau, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ortigoza-Escobar, Juan D. (Hospital Sant Joan de Déu (Manresa)) ; Macaya Ruiz, Alfons (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Danti, Federica R. (Unit of Child Neurology and Psychiatry. Department of Human Neuroscience. Sapienza University of Rome) ; Barwick, Katy (Developmental Neurosciences Programme. Great Ormond Street-Institute of Child Health. University College London) ; Papandreou, Apostolos (Great Ormond Street Hospital for Children (Londres)) ; Ng, Joanne (Gene Transfer Technology Group. Institute for Women's Health. University College London) ; Meyer, Esther (Developmental Neurosciences Programme. Great Ormond Street-Institute of Child Health. University College London) ; Mohammad, Shekeeb S. (Kids Neuroscience Centre and Brain and Mind Centre. Faculty of Medicine and Health. University of Sydney) ; Smith, Martin (Department of Pediatric Neurology. John Radcliffe Hospital) ; Muntoni, Francesco (Great Ormond Street Hospital for Children (Londres)) ; Munot, Pinki (Great Ormond Street Hospital for Children (Londres)) ; Uusimaa, Johanna (PEDEGO Research Unit. Department of Children and Adolescents. Medical Research Center Oulu. Oulu University Hospital. University of Oulu) ; Vieira, Päivi (PEDEGO Research Unit. Department of Children and Adolescents. Medical Research Center Oulu. Oulu University Hospital. University of Oulu) ; Sheridan, Eammon (School of Medicine. St James's University Hospital. University of Leeds) ; Guerrini, Renzo (Pediatric Neurology. Neurogenetics and Neurobiology Unit and Laboratories. Neuroscience Department. A. Meyer Children's Hospital. University of Florence) ; Cobben, Jan (North West Thames Regional Genetic Service. Northwick Park Hospital) ; Yilmaz, Sanem (Department of Pediatrics. Division of Child Neurology. Ege University Medical Faculty) ; De Grandis, Elisa (Child Neuropsychiatry Unit. Istituto Giannina Gaslini. Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics and Maternal and Children's Sciences. University of Genoa) ; Dale, Russell C.. (Institute for Neuroscience and Muscle Research. Children's Hospital at Westmead. University of Sydney) ; Pons, Roser (First Department of Pediatrics. Agia Sofia Children's Hospital. National and Kapodistrian University of Athens) ; Peall, Kathryn J. (Neuroscience and Mental Health Research Institute. Institute of Psychological Medicine and Clinical Neurosciences. School of Medicine. Cardiff University) ; Leuzzi, Vincenzo (Unit of Child Neurology and Psychiatry. Department of Human Neuroscience. Sapienza University of Rome) ; Kurian, Manju A. (Great Ormond Street Hospital for Children (Londres))
Background and Objective: The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders. [...]
2022 - 10.1002/mds.29182
Movement Disorders, 2022  
3.
12 p, 933.5 KB Children's Health Habits and COVID-19 Lockdown in Catalonia : Implications for Obesity and Non-Communicable Diseases / Ventura-Wichner, Paula S.. (Institut Germans Trias i Pujol. Fundació Lluita Contra les Infeccions) ; Ortigoza, Ana F. (Drexel University) ; Castillo, Yanira (Hospital HM Nens) ; Bosch, Zelmira (Hospital HM Nens) ; Casals, Sara (Hospital HM Nens) ; Girbau, Cristina (Hospital HM Nens) ; Siurana, José Manuel (Universitat Autònoma de Barcelona) ; Arce, Amalia (Hospital HM Nens) ; Torres, Marisa (Hospital HM Nens) ; Herrero Espinet, Francisco Javier (Hospital HM Nens)
Lockdown during the COVID-19 pandemic imposed changes in children's daily routine that could lead to changes in behavior patterns. Using a survey targeted at children under 17 years of age, we described dietary (adherence to Mediterranean diet, AMD) and sleeping habits (disorders of initiating and maintaining sleep) after the implementation of lockdown, and examined the probability of the inadequate frequency of physical activity (PA) and use of TV and electronic devices (TV-ED) before and after lockdown through generalized estimating equation models, accounting for age and gender differences. [...]
2021 - 10.3390/nu13051657
Nutrients, Vol. 13 (may 2021)  
4.
21 p, 2.5 MB Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG) : Evidence for Hypoglycosylation-Driven Channelopathy / Izquierdo-Serra, Mercè (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Martínez-Monseny, Antonio F. (Hospital Sant Joan de Déu (Manresa)) ; López, Laura (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Carrillo-García, Julia (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Edo, Albert (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Ortigoza-Escobar, Juan Darío (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; García Campos, Óscar (Hospital Virgen de la Salud (Toledo)) ; Cancho-Candela, Ramón (Hospital Universitario Río Hortega (Valladolid)) ; Carrasco-Marina, M. Llanos (Hospital Universitario Severo Ochoa) ; González Gutiérrez-Solana, Luis (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Cuadras, Daniel (Fundació Sant Joan de Déu) ; Muchart, Jordi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Montero, Raquel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Artuch, R. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez-Cerdá, Celia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez-Dueñas, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández-Fernández, José M. (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Serrano, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Universitat Autònoma de Barcelona
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding Ca2. [...]
2018 - 10.3390/ijms19020619
International journal of molecular sciences, Vol. 19 (february 2018)  
5.
7 p, 439.8 KB The European Reference Network for Rare Neurological Diseases / Reinhard, Carola (University Hospital of Tübingen (Alemanya)) ; Bachoud-Lévi, Anne-Catherine (Henri Mondor-Albert Chenevier Hospital) ; Bäumer, Tobias (University of Lübeck) ; Bertini, Enrico (Bambino Gesù Children's Hospital) ; Brunelle, Alicia (University Hospital of Tübingen (Alemanya)) ; Buizer, Annemieke I. (Amsterdam Movement Sciences and Emma Children's Hospital) ; Federico, Antonio (University of Siena) ; Gasser, Thomas (German Center for Neurodegenerative Diseases) ; Groeschel, Samuel (University Children's Hospital) ; Hermanns, Sanja (University Hospital of Tübingen (Alemanya)) ; Klockgether, Thomas (University Hospital Bonn (Bonn, Alemanya)) ; Krägeloh-Mann, Ingeborg (University Children's Hospital) ; Landwehrmeyer, G. Bernhard (University of Ulm) ; Leber, Isabelle (AP-HP - Hôpital Pitié-Salpêtrière) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Mariotti, Caterina (Unit of Medical Genetics and Neurogenetics, Fondazione Instituto de Ricovero e Cura a Carattere Scientifico Istituto Neurologico Carlo Besta) ; Meissner, Wassilios G. (Department of Medicine, University of Otago, New Zealand Brain Research Institute) ; Molnar, Maria Judit (Institute of Genomic Medicine and Rare Disorders, Semmelweis University) ; Nonnekes, Jorik (Radboud University Medical Centre. Centre of Expertise for Parkinson and Movement Disorders) ; Ortigoza Escobar, Juan Dario (Institut de Recerca Sant Joan de Déu) ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Renna Linton, Lori (EuroHSP (França)) ; Schöls, Ludger (University of Tübingen) ; Schuele, Rebecca (University of Tübingen) ; Tijssen, Marina A. J. (University of Groningen) ; Vandenberghe, Rik (Katholieke Universiteit Leuven) ; Volkmer, Anna (University College London Hospitals National Health System Foundation Trust National Hospital for Neurology and Neurosurgery) ; Wolf, Nicole I. (Emma Children's Hospital) ; Graessner, Holm (University Hospital of Tübingen (Alemanya)) ; Universitat Autònoma de Barcelona
While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. [...]
2021 - 10.3389/fneur.2020.616569
Frontiers in neurology, Vol. 11 (january 2021)  
6.
8 p, 1.3 MB Hypermanganesemia due to mutations in SLC39A14 : further insights into Mn deposition in the central nervous system / Marti-Sanchez, L. (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Ortigoza Escobar, Juan Dario (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Darling, Alejandra (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Villaronga, M. (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Baide, H. (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Molero-Luis, M. (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Batllori, M. (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Vanegas, M. I. (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Muchart, J. (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Aquino, Lourdes (Hospital de Mataró (Catalunya). Departament de Pediatria) ; Artuch, R. (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Kurian, M. A. (Great Ormond Street Institute of Child Health (Londres, Regne Unit)) ; Dueñas, Pérez (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
The SLC39A14, SLC30A10 and SLC39A8 are considered to be key genes involved in manganese (Mn) homeostasis in humans. Mn levels in plasma and urine are useful tools for early recognition of these disorders. [...]
2018 - 10.1186/s13023-018-0758-x
Orphanet Journal of Rare Diseases, Vol. 13 (january 2018)  

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