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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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5 p, 885.6 KB |
Correction to : Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
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Opladen, Thomas (University Children's Hospital (Alemanya)) ;
López-Laso, Eduardo (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ;
Cortès-Saladelafont, Elisenda (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Pearson, Toni S. (Washington University School of Medicine. Department of Neurology) ;
Sivri, H. Serap (Hacettepe University) ;
Yildiz, Yilmaz (Hacettepe University) ;
Assmann, Birgit (University Children's Hospital) ;
Kurian, Manju A. (Great Ormond Street Hospital for Children (Londres)) ;
Leuzzi, Vincenzo (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ;
Heales, Simon (National Hospital (Regne Unit)) ;
Pope, Simon (National Hospital (Regne Unit)) ;
Porta, Francesco (AOU Città della Salute e della Scienza. Department of Pediatrics (Itàlia)) ;
García-Cazorla, Angels (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Honzík, Tomáš (Charles University) ;
Pons, Roser (Aghia Sofia Hospital) ;
Regal, Luc (Pediatric Neurology and Metabolism Unit (Bèlgica)) ;
Goez, Helly (University of Alberta Glenrose Rehabilitation Hospital. Department of Pediatrics) ;
Artuch, R. (Institut de Recerca Sant Joan de Déu) ;
Hoffmann, Georg F. (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ;
Horvath, Gabriella (University of British Columbia. Department of Pediatrics, Division of Biochemical Genetics) ;
Thöny, Beat (University Children's Hospital Zurich) ;
Scholl-Bürgi, Sabine (Medical University of Innsbruck) ;
Burlina, Alberto (Azienda Ospedaliera Universitaria di Padova) ;
Verbeek, Marcel M. (Radboud University Medical Centre. Departments of Neurology and Laboratory Medicine) ;
Mastrangelo, Mario (Sapienza University of Rome) ;
Friedman, Jennifer (Rady Children's Institute for Genomic Medicine) ;
Wassenberg, Tessa (Pediatric Neurology and Metabolism Unit (Bèlgica)) ;
Jeltsch, Kathrin (University Children's Hospital) ;
Kulhánek, Jan (Charles University) ;
Kuseyri Hübschmann, Oya (University Children's Hospital) ;
Universitat Autònoma de Barcelona
2020 - 10.1186/s13023-020-01464-y
Orphanet Journal of Rare Diseases, Vol. 15 (august 2020)
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30 p, 1.7 MB |
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies
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Opladen, Thomas (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ;
López-Laso, Eduardo (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Cortès-Saladelafont, Elisenda (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Pearson, Toni S. (Washington University School of Medicine. Department of Neurology) ;
Sivri, H. Serap (Hacettepe University, Faculty of Medicine. Department of Pediatrics, Section of Metabolism) ;
Yildiz, Yilmaz (Hacettepe University, Faculty of Medicine. Department of Pediatrics, Section of Metabolism) ;
Assmann, Birgit (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ;
Kurian, Manju A. (Great Ormond Street Hospital for Children (Londres)) ;
Leuzzi, Vincenzo (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ;
Heales, Simon (National Hospital. Neurometabolic Unit) ;
Pope, Simon (National Hospital. Neurometabolic Unit) ;
Porta, Francesco (AOU Città della Salute e della Scienza. Department of Pediatrics) ;
García-Cazorla, Angels (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Honzík, Tomáš (Charles University. Faculty of Medicine in Hradec Králové) ;
Pons, Roser (Aghia Sofia Hospital. First Department of Pediatrics of the University of Athens) ;
Regal, Luc (UZ Brussel. Department of Pediatric, Pediatric Neurology and Metabolism Unit) ;
Goez, Helly (University of Alberta Glenrose Rehabilitation Hospital. Department of Pediatrics) ;
Artuch, R. (Institut de Recerca Sant Joan de Déu) ;
Hoffmann, Georg F. (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ;
Horvath, Gabriella (University of British Columbia. Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital) ;
Thöny, Beat (University Children's Hospital Zurich. Division of Metabolism) ;
Scholl-Bürgi, Sabine (Medical University of Innsbruck. Clinic for Pediatrics I) ;
Burlina, Alberto (Azienda Ospedaliera Universitaria di Padova) ;
Verbeek, Marcel M. (Radboud University Medical Centre. Departments of Neurology and Laboratory Medicine) ;
Mastrangelo, Mario (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ;
Friedman, Jennifer (Rady Children's Hospital Division of Neurology; Rady Children's Institute for Genomic Medicine. UCSD Departments of Neuroscience and Pediatrics) ;
Wassenberg, Tessa (UZ Brussel. Department of Pediatric, Pediatric Neurology and Metabolism Unit) ;
Jeltsch, Kathrin (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ;
Kulhánek, Jan (Charles University. Faculty of Medicine in Hradec Králové) ;
Kuseyri Hübschmann, Oya (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ;
Universitat Autònoma de Barcelona
Tetrahydrobiopterin (BH) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH biosynthesis or recycling. [...]
2020 - 10.1186/s13023-020-01379-8
Orphanet Journal of Rare Diseases, Vol. 15 (may 2020)
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8 p, 1.3 MB |
Hypermanganesemia due to mutations in SLC39A14 : further insights into Mn deposition in the central nervous system
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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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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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