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لا يتم عرض هذه النتيجة على الضيوف.
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لا يتم عرض هذه النتيجة على الضيوف.
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المؤلفون: Serafim AB; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Olivé-Cirera G; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Ortega-González Á; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Kruer MC; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Weese-Mayer D; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Rand CM; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Fons C; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Fernández-Ramos JA; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Clemente M; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Simabukuro MM; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Embiruçu EK; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Ibáñez-Micó S; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Dalmau JO; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Graus F; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Armangué T; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain., Sabater L; From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.

المصدر: Neurology(R) neuroimmunology & neuroinflammation [Neurol Neuroimmunol Neuroinflamm] 2024 Sep; Vol. 11 (5), pp. e200276. Date of Electronic Publication: 2024 Jun 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wolters Kluwer Health/Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101636388 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2332-7812 (Electronic) Linking ISSN: 23327812 NLM ISO Abbreviation: Neurol Neuroimmunol Neuroinflamm Subsets: MEDLINE

مواضيع طبية MeSH: Autoantibodies*/blood , Autoantibodies*/cerebrospinal fluid , Hypothalamic Diseases*/immunology , Hypothalamic Diseases*/blood , Hypothalamic Diseases*/cerebrospinal fluid, Humans ; Male ; Adult ; Female ; Child ; Adolescent ; Transcription Factors/immunology ; Hypoventilation/blood ; Hypoventilation/immunology ; Hypoventilation/cerebrospinal fluid ; Autonomic Nervous System Diseases/immunology ; Autonomic Nervous System Diseases/blood ; Obesity/immunology ; Young Adult ; Middle Aged ; Child, Preschool ; Syndrome

المؤلفون: Montenegro YHA; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Rede MPS Brasil, Porto Alegre, RS, Brazil., Kubaski F; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil., Trapp FB; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Rede MPS Brasil, Porto Alegre, RS, Brazil.; Casa dos Raros, Porto Alegre, RS, Brazil., Riegel-Giugliani M; Casa dos Raros, Porto Alegre, RS, Brazil., Souza CFM; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Rede MPS Brasil, Porto Alegre, RS, Brazil.; Casa dos Raros, Porto Alegre, RS, Brazil., Ribeiro EM; Hospital Infantil Albert Sabin, Serviço de Genética Médica, Fortaleza, CE, Brazil., Lourenço CM; Centro Universitário Estácio, Ribeirão Preto, SP, Brazil., Cardoso-Dos-Santos AC; Hospital Infantil Albert Sabin, Serviço de Genética Médica, Fortaleza, CE, Brazil., Ribeiro MG; Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Serviço de Genética Médica, Rio de Janeiro, RJ, Brazil., Kim CA; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Instituto da Criança, São Paulo, SP, Brazil., Castro MAA; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Instituto da Criança, São Paulo, SP, Brazil., Embiruçu EK; Universidade Federal da Bahia, Complexo Hospitalar Universitário Professor Edgar Santos, Departamento de Ciências da Vida, Salvador, BA, Brazil., Steiner CE; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Medicina Translacional, São Paulo, SP, Brazil., Vairo FPE; Mayo Clinic, Center for Individualized Medicine, Rochester, MN, USA.; Mayo Clinic, Department of Clinical Genomics, Rochester, MN, USA., Baldo G; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Rede MPS Brasil, Porto Alegre, RS, Brazil.; Casa dos Raros, Porto Alegre, RS, Brazil.; Universidade Federal do Rio Grande do Sul, Departamento de Fisiologia, Porto Alegre, RS, Brazil.; Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Genética e Biologia Molecular, Porto Alegre, RS, Brazil., Giugliani R; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Universidade Federal do Rio Grande do Sul, Instituto Nacional de Genética Médica Papulacional, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Rede MPS Brasil, Porto Alegre, RS, Brazil.; Casa dos Raros, Porto Alegre, RS, Brazil.; Dasa Genômica, São Paulo, SP, Brazil.; Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Genética e Biologia Molecular, Porto Alegre, RS, Brazil., Poswar FO; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Genética e Biologia Molecular, Porto Alegre, RS, Brazil.

المصدر: Genetics and molecular biology [Genet Mol Biol] 2024 Mar 08; Vol. 47 (1), pp. e20230285. Date of Electronic Publication: 2024 Mar 08 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sociedade Brasileira de Genética Country of Publication: Brazil NLM ID: 100883590 Publication Model: eCollection Cited Medium: Print ISSN: 1415-4757 (Print) Linking ISSN: 14154757 NLM ISO Abbreviation: Genet Mol Biol Subsets: PubMed not MEDLINE

عنوان ترانسليتريتد: Manejo clínico e diagnóstico da doença CLN2: consenso do grupo de especialistas brasileiros.

المؤلفون: Sampaio LPB; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo SP, Brazil., Manreza MLG; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo SP, Brazil., Pessoa A; Universidade Estadual do Ceará, Hospital Infantil Albert Sabin, Fortaleza CE, Brazil., Gurgel-Giannetti J; Universidade Federal de Minas Gerais, Faculdade de Medicina, Hospital das Clínicas, Belo Horizonte MG, Brazil., Coan AC; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brazil., Júnior HVL; Instituto de Neurologia de Goiânia, Goiânia GO, Brazil., Embiruçu EK; Universidade do Estado da Bahia, Hospital Universitário Professor Edgard Santos, Salvador BA, Brazil., Henriques-Souza AMM; Instituto de Medicina Integral Professor Fernando Figueira, Recife PE, Brazil., Kok F; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo SP, Brazil.

المصدر: Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2023 Mar; Vol. 81 (3), pp. 284-295. Date of Electronic Publication: 2023 Apr 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Thieme Country of Publication: Germany NLM ID: 0125444 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1678-4227 (Electronic) Linking ISSN: 0004282X NLM ISO Abbreviation: Arq Neuropsiquiatr Subsets: MEDLINE

مواضيع طبية MeSH: Tripeptidyl-Peptidase 1* , Neuronal Ceroid-Lipofuscinoses*/diagnosis , Neuronal Ceroid-Lipofuscinoses*/genetics , Neuronal Ceroid-Lipofuscinoses*/therapy, Humans ; Brazil ; Consensus ; Quality of Life

المؤلفون: Gama MTD; Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Braga-Neto P; Neurology Section, Department of Clinical Medicine, Faculty of Medicine, Federal University of Ceará (UFC), Fortaleza, Brazil.; Neurology Service, Hospital Geral de Fortaleza, Fortaleza, Brazil., Rangel DM; Neurology Section, Department of Clinical Medicine, Faculty of Medicine, Federal University of Ceará (UFC), Fortaleza, Brazil.; Neurology Service, Hospital Geral de Fortaleza, Fortaleza, Brazil., Godeiro C Jr; Neurology, Federal University of Rio Grande do Norte (UFRN), Natal, Brazil., Alencar R; Neurology, Federal University of Rio Grande do Norte (UFRN), Natal, Brazil., Embiruçu EK; Medical Genetics Service, Hospital Universitário Professor Edgard Santos, Salvador, Brazil., Cornejo-Olivas M; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.; Center for Global Health, Universidad Peruana Cayetano Heredia, Lima, Peru., Sarapura-Castro E; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru., Saffie Awad P; CETRAM-Centro de Estudios de Transtornos del Movimiento, Santiago, Chile., Muñoz Chesta D; CETRAM-Centro de Estudios de Transtornos del Movimiento, Santiago, Chile.; Hospital San Borra Arriarán, Santiago, Chile., Kauffman M; Neurogenetics Unit, Hospital General de Agudos José Maria Ramos Mejía, Buenos Aires, Argentina., Rodriguez-Quiroga S; Neurogenetics Unit, Hospital General de Agudos José Maria Ramos Mejía, Buenos Aires, Argentina., Jardim LB; Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Centros de Pesquisa Clínica e Experimental, e Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., da Graça FF; Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil., França MC Jr; Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil., Tomaselli PJ; Department of Neuroscience and Behavioural Science, School of Medicine, University of São Paulo (USP), Ribeirão Preto, Brazil., Marques W Jr; Department of Neuroscience and Behavioural Science, School of Medicine, University of São Paulo (USP), Ribeirão Preto, Brazil., Teive HAG; Internal Medicine Department, Federal University of Paraná, Curitiba, Brazil., Barsottini OGP; Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Pedroso JL; Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Synofzik M; Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Aug; Vol. 37 (8), pp. 1773-1774. Date of Electronic Publication: 2022 May 04.

نوع المنشور: Letter; Multicenter Study

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Cerebellar Ataxia*/genetics, Genes, Recessive ; Humans ; Mutation ; South America

المؤلفون: Montenegro YHA; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics/UFRGS, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., de Souza CFM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Kubaski F; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Trapp FB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Burin MG; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Michelin-Tirelli K; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Leistner-Segal S; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Facchin ACB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Medeiros FS; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Giugliani L; PTC Farmacêutica do Brasil LTDA, São Paulo, Brazil., Ribeiro EM; Medical Genetics Service, Hospital Infantil Albert Sabin, Fortaleza, Brazil., Lourenço CM; Centro Universitário Estácio, Ribeirão Preto, Brazil.; Faculdade de Medicina de São José do Rio Preto, FAMERP, São José do Rio Preto, Brazil., Cardoso-Dos-Santos AC; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics/UFRGS, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil., Ribeiro MG; Medical Genetics Service, Instituto de Puericultura e Pediatria Martagão Gesteira/UFRJ, Rio de Janeiro, Brazil., Kim CA; Genetic Unity, Instituto da Criança HC FMUSP, São Paulo, Brazil., Castro MAA; Genetic Unity, Instituto da Criança HC FMUSP, São Paulo, Brazil., Embiruçu EK; Science of Life Department, Universidade do Estado da Bahia, Salvador, Brazil., Steiner CE; Department of Medical Genetics and Genomic Medicine, Faculdade de Ciências Médicas/UNICAMP, São Paulo, Brazil., Moreira MLC; Hospital Santa Casa da Misericordia, Campo Grande, Brazil., Montano HQ; Hospital Verdi Cevallos, Portoviejo, Ecuador., Baldo G; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics/UFRGS, Porto Alegre, Brazil., Giugliani R; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics/UFRGS, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 760-767. Date of Electronic Publication: 2021 Nov 22.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Mucopolysaccharidosis III*/diagnosis , Mucopolysaccharidosis III*/epidemiology , Mucopolysaccharidosis III*/genetics, Alleles ; Brazil/epidemiology ; Child ; Heparitin Sulfate ; Humans

المؤلفون: Paz JA; Child Neurology Unit Children's Institute, University of Sao Paulo School of Medicine Sao Paulo Brazil., Embiruçu EK; Medical Genetic Service Professor Edgard Santos University Hospital Salvador Brazil.; Life Sciences Department University of the State of Bahia Salvador Brazil., Bueno C; Child Neurology Unit Children's Institute, University of Sao Paulo School of Medicine Sao Paulo Brazil.; Child Neurology Service, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil., Ferreira RCCL; Child Neurology Service, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil., Oliveira FS; Medical Genetic Service Professor Edgard Santos University Hospital Salvador Brazil., Pereira ASS; Medical Genetic Service Professor Edgard Santos University Hospital Salvador Brazil.; Life Sciences Department University of the State of Bahia Salvador Brazil., Schwartz IVD; Child Neurology Service, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil.; Medical Genetics Service Hospital de Clinicas de Porto Alegre Porto Alegre Brazil., Paiva ARB; Neurogenetics Unit, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil., Lucato LT; Department of Radiology University of Sao Paulo School of Medicine Sao Paulo Brazil., Kok F; Child Neurology Unit Children's Institute, University of Sao Paulo School of Medicine Sao Paulo Brazil.; Child Neurology Service, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil.; Mendelics Genomic Analysis Sao Paulo Brazil.

المصدر: JIMD reports [JIMD Rep] 2021 Sep 30; Vol. 62 (1), pp. 49-55. Date of Electronic Publication: 2021 Sep 30 (Print Publication: 2021).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

المؤلفون: Poloni S; Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Sperb-Ludwig F; Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Borsatto T; Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Weber Hoss G; Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Doriqui MJR; Complexo Hospitalar Materno-Infantil do Maranhão, São Luis, Brazil., Embiruçu EK; Complexo Hospitalar Professor Edgard Santos, Universidade do Estado da Bahia, Salvador, Brazil.; Universidade do Estado da Bahia, Salvador, Brazil., Boa-Sorte N; Complexo Hospitalar Professor Edgard Santos, Universidade do Estado da Bahia, Salvador, Brazil.; Universidade do Estado da Bahia, Salvador, Brazil., Marques C; Hospital das Clínicas de Ribeirão Preto, Ribeirão Preto, Brazil., Kim CA; Universidade de São Paulo, São Paulo, Brazil., Fischinger Moura de Souza C; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Rocha H; Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil., Ribeiro M; Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil., Steiner CE; Universidade Estadual de Campinas, Campinas, Brazil., Moreno CA; Universidade Estadual de Campinas, Campinas, Brazil., Bernardi P; Universidade Federal de Santa Catarina, Florianópolis, Brazil., Valadares E; Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Artigalas O; Children's Hospital, Grupo Hospitalar Conceição, Porto Alegre, Brazil.; Genetics Unit, Hospital Materno-Infantil Presidente Vargas, Porto Alegre, Brazil., Carvalho G; Hospital de Apoio de Brasília, Brasília, Brazil., Wanderley HYC; Escola Superior de Ciências da Santa Casa de Misericórdia de Vitória, Vitória, Brazil., Kugele J; Laboratory for Clinical Biochemistry and Metabolism, University Medical Center, Freiburg, Germany., Walter M; Laboratory for Clinical Biochemistry and Metabolism, University Medical Center, Freiburg, Germany., Gallego-Villar L; Laboratory for Clinical Biochemistry and Metabolism, University Medical Center, Freiburg, Germany., Blom HJ; Laboratory for Clinical Biochemistry and Metabolism, University Medical Center, Freiburg, Germany., Schwartz IVD; Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2018 Mar; Vol. 6 (2), pp. 160-170. Date of Electronic Publication: 2018 Jan 20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Cystathionine beta-Synthase/*genetics , Homocystinuria/*genetics , Pyridoxine/*genetics, Adolescent ; Adult ; Alleles ; Base Sequence/genetics ; Biomarkers, Pharmacological/blood ; Brazil/epidemiology ; Child ; Cystathionine beta-Synthase/metabolism ; Exons/genetics ; Female ; Gene Expression/genetics ; Genetic Association Studies/methods ; Genetic Predisposition to Disease/genetics ; Humans ; Male ; Mutation/genetics ; Polymorphism, Single Nucleotide/genetics ; Pyridoxine/pharmacology