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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A; Yuskaitis, Christopher J; Salussolia, Catherine L; Ebrahimi-Fakhari, Daniel; Pearson, Toni S; Saffari, Afshin; Ziegler, Andreas; Kölker, Stefan; Volkmann, Jens; Wiesener, Antje; Bearden, David R; Lakhani, Shenela; Segal, Devorah; Udwadia-Hegde, Anaita; Martinuzzi, Andrea; Hirst, Jennifer; Perlman, Seth; Takiyama, Yoshihisa; Xiromerisiou, Georgia; Vill, Katharina; Walker, William O; Shukla, Anju; Dubey Gupta, Rachana; Dahl, Niklas; Aksoy, Ayse; Verhelst, Helene; Delgado, Mauricio R; Kremlikova Pourova, Radka; Sadek, Abdelrahim A; Elkhateeb, Nour M; Blumkin, Lubov; Brea-Fernández, Alejandro J; Dacruz-Álvarez, David; Smol, Thomas; Ghoumid, Jamal; Miguel, Diego; Heine, Constanze.
Afiliación
  • Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Teinert J; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Behne R; Division of Child Neurology and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Wimmer M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • D'Amore A; Department of Neurology, University Hospital Würzburg, Würzburg, Germany.
  • Eberhardt K; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Brechmann B; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Ziegler M; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Jensen DM; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Nagabhyrava P; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Geisel G; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Carmody E; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Shamshad U; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Dies KA; Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Yuskaitis CJ; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Salussolia CL; Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Pearson TS; Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Saffari A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Ziegler A; Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Kölker S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Volkmann J; Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Wiesener A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Bearden DR; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Lakhani S; Pediatric Neurology, Saarland University Medical Center, Homburg/Saar, Germany.
  • Segal D; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
  • Udwadia-Hegde A; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
  • Martinuzzi A; Division of Child Neurology and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Hirst J; Division of Child Neurology and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Perlman S; Division of Child Neurology and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Takiyama Y; Department of Neurology, University Hospital Würzburg, Würzburg, Germany.
  • Xiromerisiou G; Institute of Human Genetics, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Vill K; Child Neurology, University of Rochester School of Medicine, Rochester, NY, USA.
  • Walker WO; Center for Neurogenetics, Weill Cornell Medical College, New York, NY, USA.
  • Shukla A; Center for Neurogenetics, Weill Cornell Medical College, New York, NY, USA.
  • Dubey Gupta R; Division of Child Neurology, Weill Cornell Medicine, New York City, NY, USA.
  • Dahl N; Department of Pediatric Neurology, Jaslok Hospital and Research Centre, Mumbai, India.
  • Aksoy A; Scientific Institute, IRCCS E. Medea, Unità Operativa Conegliano, Treviso, Italy.
  • Verhelst H; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Delgado MR; Division of Neurology, Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
  • Kremlikova Pourova R; Department of Neurology, University of Yamanashi, Yamanashi, Japan.
  • Sadek AA; Department of Neurology, Papageorgiou Hospital, Thessaloniki, Greece.
  • Elkhateeb NM; Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
  • Blumkin L; Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA.
  • Brea-Fernández AJ; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Dacruz-Álvarez D; Pediatric Neurology, Medanta Hospital, Indore, India.
  • Smol T; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • Ghoumid J; Pediatric Neurology, Dr. Sami Ulus Hospital, Ankara, Turkey.
  • Miguel D; Pediatric Neurology, Ghent University Hospital, Ghent, Belgium.
  • Heine C; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Brain ; 143(10): 2929-2944, 2020 10 01.
Article en En | MEDLINE | ID: mdl-32979048
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Imagen por Resonancia Magnética / Paraplejía Espástica Hereditaria / Cuerpo Calloso / Complejo 4 de Proteína Adaptadora Tipo de estudio: Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies / Screening_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Brain Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Imagen por Resonancia Magnética / Paraplejía Espástica Hereditaria / Cuerpo Calloso / Complejo 4 de Proteína Adaptadora Tipo de estudio: Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies / Screening_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Brain Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos