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Resultats globals: 3 registres trobats en 0.01 segons.
Articles, 3 registres trobats
Articles 3 registres trobats  
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  
Registre complet - Creative Commons
2.
4 p, 82.9 KB Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy / De Simoni, Desiree ; Ricken, Gerda ; Winklehner, Michael ; Koneczny, Inga ; Karenfort, Michael ; Hustedt, Ulf ; Seidel, Ulrich ; Abdel-Mannan, Omar ; Munot, Pinki ; Rinaldi, Simon ; Steen, Claudia ; Freilinger, Michael ; Breu, Markus ; Seidl, Rainer ; Reindl, Markus ; Wanschitz, Julia ; Lleixà, Cinta (Institut d'Investigació Biomèdica Sant Pau) ; Bernert, Günther ; Wandinger, Klaus-Peter ; Junker, Ralf ; Querol, Luis (Institut d'Investigació Biomèdica Sant Pau) ; Leypoldt, Frank ; Rostásy, Kevin ; Höftberger, Romana ; Universitat Autònoma de Barcelona
2020 - 10.1212/NXI.0000000000000763
Neurology® neuroimmunology & neuroinflammation, Vol. 7 (june 2020)  
Registre complet - Creative Commons
3.
9 p, 359.6 KB The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations / Rodríguez Cruz, Pedro M. (John Radcliffe Hospital (Oxford, Regne Unit)) ; Cossins, Judith (Neurosciences Group. Nuffield Department of Clinical Neurosciences. Weatherall Institute of Molecular Medicine. University of Oxford) ; De Paula Estephan, Eduardo (Departamento de Neurologia. Faculdade de Medicina. Universidade de São Paulo (FMUSP)) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Selby, KKathryn (University of British Columbia) ; Hirano, Michio (Department of Neurology. H. Houston Merritt Neuromuscular Research Center. Columbia University Medical Center) ; Maroofin, Reza (Molecular and Clinical Sciences Institute. St. George's. University of London) ; Mehrjardi, Mohammad Yahya Vahid (Medical Genetics Research Centre. Shahid Sadoughi University of Medical Sciences) ; Chow, Gabriel (Nottingham University Hospitals NHS Trust (Regne Unit)) ; Carr, Aislin (MRC Centre for Neuromuscular Diseases. National Hospital for Neurology and Neurosurgery) ; Manzur, Adnan (Dubowitz Neuromuscular Centre. MRC Centre for Neuromuscular Diseases. UCL Great Ormond Street Institute of Child Health) ; Robb, Stephanie (Dubowitz Neuromuscular Centre. MRC Centre for Neuromuscular Diseases. UCL Great Ormond Street Institute of Child Health) ; Munot, Pinki (Dubowitz Neuromuscular Centre. MRC Centre for Neuromuscular Diseases. UCL Great Ormond Street Institute of Child Health) ; Wei Liu, Wei (Neurosciences Group. Nuffield Department of Clinical Neurosciences. Weatherall Institute of Molecular Medicine. University of Oxford) ; Banka, Siddharth (Manchester Centre for Genomic Medicine. St Mary's Hospital. Manchester University NHS Foundation Trust. Health Innovation Manchester) ; Fraser, Harry (Manchester Centre for Genomic Medicine. St Mary's Hospital. Manchester University NHS Foundation Trust. Health Innovation Manchester) ; De Goede, Christian (Department of Paediatric Neurology. Royal Preston Hospital) ; Zanoteli, Edmar (Departamento de Neurologia. Faculdade de Medicina. Universidade de São Paulo (FMUSP)) ; Conti Reed, Umbertina (Departamento de Neurologia. Faculdade de Medicina. Universidade de São Paulo (FMUSP)) ; Sage, Abigail (Department of Neurology. H. Houston Merritt Neuromuscular Research Center. Columbia University Medical Center) ; Gratacòs-Viñola, Margarida (Hospital Universitari Vall d'Hebron) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Dusl, Marina (Friedrich-Baur-Institute. Department of Neurology. University Hospital LMU Munich) ; Senderek, Jan (Friedrich-Baur-Institute. Department of Neurology. University Hospital LMU Munich) ; Töpf, Ana (Institute of Genetic Medicine) ; Hofer, Monika (John Radcliffe Hospital (Oxford, Regne Unit)) ; Knight, Ravi (John Radcliffe Hospital (Oxford, Regne Unit)) ; Ramdas, Sithara (Department of Paediatric Neurology. John Radcliffe Hospital NHS Foundation Trust) ; Jayawant, Sandeep (Department of Paediatric Neurology. John Radcliffe Hospital NHS Foundation Trust) ; Lochmüller, Hans (Division of Neurology. Department of Medicine. Ottawa Hospital) ; Palace, Jacqueline (John Radcliffe Hospital (Oxford, Regne Unit)) ; Beeson, David (Neurosciences Group. Nuffield Department of Clinical Neurosciences. Weatherall Institute of Molecular Medicine. University of Oxford) ; Universitat Autònoma de Barcelona
Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic basal lamina-associated congenital myasthenic syndrome type 19. Animal studies showed COL13A1, a synaptic extracellular-matrix protein, is involved in the formation and maintenance of the neuromuscular synapse that appears independent of the Agrin-LRP4-MuSK-DOK7 acetylcholine receptor clustering pathway. [...]
2019 - 10.1093/brain/awz107
Brain, Vol. 142 Núm. 6 (january 2019) , p. 1547-1560  
Registre complet - Creative Commons

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