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8 p, 557.3 KB |
Transitional Care for Young People with Movement Disorders : Recommendations from the Task Force on Pediatrics
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Pringsheim, Tamara (University of Calgary) ;
Batla, Amit (UCL Institute of Neurology (Regne Unit)) ;
Shalash, Ali (Ain Shams Univeristy) ;
Sahu, Jitendra Kumar (Postgraduate Institute of Medical Education and Research) ;
Cosentino, Carlos (Universidad Nacional Mayor de San Marcos (Lima, Perú)) ;
Ebrahimi-Fakhari, Darius (Harvard Medical School) ;
Friedman, Jennifer (UC San Diego) ;
Lin, Jean-Pierre (King's College London) ;
Mink, Jonathan (University of Rochester) ;
Munchau, Alexander (Institute of Systems Motor Science) ;
Munoz, Daniela (San Borja Arriaran Hospital) ;
Nardocci, Nardo (Fondazione IRCCS Istituto Neurologico "C Besta") ;
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ;
Sardar, Zomer (Columbia University Irving Medical Center/New York Presbyterian Hospital) ;
Triki, Chahnez (University of Sfax Tunisia) ;
Ben-Pazi, Hilla (Movement Disorders Clinic) ;
Silveira-Moriyama, Laura (University of Campinas) ;
Troncoso-Schifferli, Monica (San Borja Arriaran Hospital) ;
Hoshino, Kyoko (Segawa Memorial Neurological Clinic for Children) ;
Dale, Russell C. (University of Sydney) ;
Fung, Victor S.C. (University of Sydney) ;
Kurian, Manju A. (Zayed Centre for Research into Rare Disease in Children) ;
Roze, Emmanuel (Sorbonne University) ;
Universitat Autònoma de Barcelona
The International Parkinson and Movement Disorders Society (MDS) set up a working group on pediatric movement disorders (MDS Task Force on Pediatrics) to generate recommendations to guide the transition process from pediatrics to adult health care systems in patients with childhood-onset movement disorders. [...]
2023 -  10.1002/mdc3.13728
Movement Disorders Clinical Practice, Vol. 10 (april 2023) , p. 748-755
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14 p, 1.5 MB |
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders
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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
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23 p, 1.3 MB |
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
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Mohammad, Shekeeb S. (University of Sydney) ;
Angiti, Rajeshwar Reddy (Liverpool Hospital) ;
Biggin, Andrew (University of Sydney) ;
Morales-Briceño, Hugo (Westmead Hospital) ;
Goetti, Robert (University of Sydney) ;
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Gregory, Allison (Oregon Health & Science University) ;
Hogarth, Penelope (Oregon Health & Science University) ;
Ng, Joanne (UCL-Institute of Child Health) ;
Papandreou, Apostolos (UCL-Institute of Child Health) ;
Bhattacharya, Kaustuv (University of Sydney) ;
Rahman, Shamima (University College London and Metabolic Unit) ;
Prelog, Kristina (University of Sydney) ;
Webster, Richard I (TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead) ;
Wassmer, Evangeline (Birmingham Children's Hospital) ;
Hayflick, Susan J (Oregon Health & Science University) ;
Livingston, John (University of Leeds) ;
Kurian, Manju (UCL-Institute of Child Health) ;
Chong, W. Kling (Great Ormond Street Hospital for Children (Londres)) ;
Dale, Russell C.. (University of Sydney) ;
Universitat Autònoma de Barcelona
Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly confirming genomic findings and also enabling new gene discovery. [...]
2020 - 10.1093/braincomms/fcaa178
Brain Communications, Vol. 2 (october 2020)
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795.1 KB |
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
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Rice, Gillian I. (University of Manchester) ;
Park, Sehoon (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Gavazzi, Francesco (Children's Hospital of Philadelphia (Pennsilvània)) ;
Adang, Laura A. (Children's Hospital of Philadelphia (Pennsilvània)) ;
Ayuk, Loveline A. (Dumfries and Galloway Royal Infirmary) ;
Eyck, Lien Van (Institut Imagine (Paris, França)) ;
Seabra, Luis (Institut Imagine (Paris, França)) ;
Barrea, Christophe (Université de Liège) ;
Battini, Roberta (IRCCS Fondazione Stella Maris) ;
Belot, Alexandre (Université de Lyon) ;
Berg, Stefan (The Queen Silvia Children's Hospital) ;
de Villemeur, Thierry Billette (Sorbonne Université) ;
Bley, Annette E. (University Children's Hospital) ;
Blumkin, Lubov (Tel-Aviv University) ;
Boespflug-Tanguy, Odile (Centre de Référence Maladies Rares "Leucodystrophies") ;
Briggs, Tracy A. (St Mary's Hospital) ;
Brimble, Elise (Stanford University School of Medicine) ;
Dale, Russell C.. (University of Sydney) ;
Darin, Niklas (The Queen Silvia Children's Hospital) ;
Debray, François-Guillaume (Université de Liège) ;
De Giorgis, Valentina (IRCCS Mondino Foundation) ;
Denecke, Jonas (University Medical Center Hamburg Eppendorf) ;
Doummar, Diane (Hôpital Armand Trousseau (París, França)) ;
Hagelsrum, Gunilla Drake af (PeThe Queen Silvia Children's Hospital) ;
Eleftheriou, Despina (University College London (UCL)) ;
Estienne, Margherita (Istituto Neurologico Carlo Besta) ;
Fazzi, Elisa (University of Brescia. Department of Experimental and Clinical Sciences) ;
Feillet, François (Centre de Référence des maladies métaboliques de Nancy (França)) ;
Galli, Jessica (University of Brescia. Department of Experimental and Clinical Sciences) ;
Hartog, Nicholas (Michigan State University College of Human Medicine) ;
Harvengt, Julie (University of Liège. Department of Medical Genetics) ;
Heron, Bénédicte (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ;
Heron, Delphine (Groupe Hospitalier Pitié-Salpêtrière (París, França). UF Génétique Médicale et Centre de Référence "Déficiences Intellectuelles) ;
Kelly, Diedre A. (Birmingham Women's and Children's Hospital (Regne Unit)) ;
Lev, Dorit (The Rina Mor Institute of Medical Genetics (Holon, Israel)) ;
Levrat, Virginie (Centre Hospitalier Annecy Genevois (Pringy, França)) ;
Livingston, John H. (Leeds General Infirmary (Leeds, Regne Unit)) ;
Marti, Itxaso (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Mignot, Cyril (GH Pitié-Sapêtrière (París, França). Departement de Génétique & Centre de Référence Déficience Intellectuelle de cause rare) ;
Mochel, Fanny (Sorbonne Universités. Institut du Cerveau et de la Moelle épinière) ;
Nougues, Marie-Christine (Hôpital Armand Trousseau (París, França)) ;
Oppermann, Ilena (University Medical Center Hamburg Eppendorf) ;
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Popp, Bernt (Friedrich-Alexander-Universität Erlangen-Nürnberg. Institute of Human Genetics) ;
Rodero, Mathieu P. (Institut Imagine (París, França). Laboratory of Neurogenetics and Neuroinflammation) ;
Rodriguez, Diana (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ;
Saletti, Veronica (Fondazione IRCCS Istituto Neurologico Carlo Besta (Milà, Itàlia)) ;
Sharpe, Cia (Starship Children's Hospital (Auckland, Nova Zelanda)) ;
Tonduti, Davide (V. Buzzi Children's Hospital (Milà, Itàlia)) ;
Vadlamani, Gayatri (Leeds General Infirmary (Leeds, Regne Unit)) ;
Haren, Keith Van (Stanford University School of Medicine. Department of Neurology) ;
Vila, Miguel Tomas (Hospital Universitari i Politècnic La Fe (València)) ;
Vogt, Julie (West Midlands Regional Clinical Genetics Service (Regne Unit)) ;
Wassmer, Evangeline (Birmingham Women's and Children's Hospital (Regne Unit)) ;
Wiedemann, Arnaud (Centre de Référence des maladies métaboliques de Nancy (França)) ;
Wilson, Callum J. (Starship Children's Hospital (Auckland, Nova Zelanda)) ;
Zerem, Ayelet (Tel-Aviv Universitym. Sackler Faculty of Medicine) ;
Zweier, Christiane (Friedrich-Alexander-Universität Erlangen-Nürnberg) ;
Zuberi, Sameer M. (University of Glasgow. School of Medicine) ;
Orcesi, Simona (University of Pavia. Department of Brain and Behavioural Sciences) ;
Vanderver, Adeline L. (Children's Hospital of Philadelphia (Pennsilvània)) ;
Hur, Sun (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Crow, Yanick J. (University of Edinburgh. Institute of Genetics and Molecular Medicine) ;
Universitat Autònoma de Barcelona
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutières syndrome and Singleton Merten syndrome. [...]
2020 - 10.1002/humu.23975
Human mutation, Vol. 41 (january 2020) , p. 837-849
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16 p, 3.8 MB |
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia
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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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