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Artículos, Encontrados 2 registros
Artículos Encontrados 2 registros  
1.
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  
Registro completo - Creative Commons
2.
16 p, 3.8 MB Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia / Tuschl, Karin (University College London. Institute of Child Health) ; Meyer, Esther (University College London. Institute of Child Health) ; Valdivia, Leonardo E. (University College London. Department of Cell and Developmental Biology) ; Zhao, Ningning (Oregon Health and Science University. Department of Cell, Development and Cancer Biology) ; Dadswell, Chris (University of Sussex. Department of Chemistry, School of Life Sciences) ; Abdul-Sada, Alaa (University of Sussex. Department of Chemistry, School of Life Sciences) ; Hung, Christina Y. (Harvard Medical School. Division of Genetics and Genomics) ; Simpson, Michael A. (King's College London) ; Chong, W. Kling (Great Ormond Street Hospital for Children (Londres)) ; Jacques, Thomas S. (Great Ormond Street Hospital for Children (Londres)) ; Woltjer, Randy L. (Oregon Health and Science University. Department of Pathology) ; Eaton, Simon (University College London. Institute of Child Health) ; Gregory, Allison (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Sanford, Lynn (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Kara, Eleanna (University College London. Institute of Neurology) ; Houlden, Henry (University College London. Institute of Neurology) ; Cuno, Stephan M. (Technical University of Munich. Institute of Human Genetics) ; Prokisch, Holger (Technical University of Munich. Institute of Human Genetics) ; Valletta, Lorella (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Tiranti, Valeria (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Younis, Rasha (University of Birmingham. Department of Medical and Molecular Genetics) ; Maher, Eamonn R. (University of Birmingham. Centre for Rare Diseases and Personalised Medicine) ; Spencer, John (University of Sussex. Department of Chemistry, School of Life Sciences) ; Straatman Iwanowska, Ania (University College London. Laboratory for Molecular Cell Biology and Cell Biology Unit) ; Gissen, Paul (University College London. Institute of Child Health) ; Selim, Laila A. M. (Cairo University Children's Hospital. Department of Paediatric Neurology) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Coroleu Lletget, Wifredo (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Mohammad, Shekeeb S. (University of Sydney. Institute for Neuroscience and Muscle Research) ; Yoganathan, Sangeetha (Christian Medical College Hospital. Department of Neurological Sciences (Vellore, Índia)) ; Dale, Russell C.. (University of Sydney. Institute for Neuroscience and Muscle Research) ; Thomas, Maya (Christian Medical College Hospital. Department of Neurological Sciences (Vellore, Índia)) ; Rihel, Jason (University College London. Department of Cell and Developmental Biology) ; Bodamer, Olaf A. (Harvard Medical School. Division of Genetics and Genomics) ; Enns, Caroline A. (Oregon Health & Sciences University. Department of Cell, Development and Cancer Biology) ; Hayflick, Susan J. (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Clayton, Peter T. (University College London. Institute of Child Health) ; Mills, Philippa B. (University College London. Institute of Child Health) ; Kurian, Manju A. (University College London. Institute of Child Health) ; Wilson, Stephen W. (University College London. Department of Cell and Developmental Biology)
Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. [...]
2016 - 10.1038/ncomms11601
Nature communications, Vol. 7 Núm. 11601 (May 2016)  
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Vea también: autores con nombres similares
1 Meyer, Etienne H.
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