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Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.
Reetz, Kathrin; Dogan, Imis; Costa, Ana S; Dafotakis, Manuel; Fedosov, Kathrin; Giunti, Paola; Parkinson, Michael H; Sweeney, Mary G; Mariotti, Caterina; Panzeri, Marta; Nanetti, Lorenzo; Arpa, Javier; Sanz-Gallego, Irene; Durr, Alexandra; Charles, Perrine; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Karin, Ivan; Depondt, Chantal; vom Hagen, Jennifer Müller; Schöls, Ludger; Giordano, Ilaria A; Klockgether, Thomas; Bürk, Katrin; Pandolfo, Massimo; Schulz, Jörg B.
Affiliation
  • Reetz K; Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen,
  • Dogan I; Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany; Institute of Neuroscience and Medicine 4, Research Centre Jülich, Jülich, Germany.
  • Costa AS; Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany.
  • Dafotakis M; Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany.
  • Fedosov K; Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany.
  • Giunti P; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Parkinson MH; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Sweeney MG; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.
  • Mariotti C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.
  • Panzeri M; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.
  • Nanetti L; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.
  • Arpa J; Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid, Spain.
  • Sanz-Gallego I; Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid, Spain.
  • Durr A; Assistance Publique - Hôpitaux de Paris, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France; Institut du Cerveau et de la Moelle épinière; Institut National de la Santé et de la Recherche Médicale U1127; Centre National de la Recherche Scientifique Unité mixte recherché 7225; Universi
  • Charles P; Assistance Publique - Hôpitaux de Paris, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France; Institut du Cerveau et de la Moelle épinière; Institut National de la Santé et de la Recherche Médicale U1127; Centre National de la Recherche Scientifique Unité mixte recherché 7225; Universi
  • Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
  • Nachbauer W; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
  • Klopstock T; Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
  • Karin I; Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany.
  • Depondt C; Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.
  • vom Hagen JM; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Schöls L; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Giordano IA; Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
  • Klockgether T; Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
  • Bürk K; Department of Neurology, Philipps University of Marburg, Marburg, Germany.
  • Pandolfo M; Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.
  • Schulz JB; Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Clinical Trial Centre, University Hospital Rheinisch-
Lancet Neurol ; 14(2): 174-82, 2015 Feb.
Article in En | MEDLINE | ID: mdl-25566998
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Friedreich Ataxia / Databases, Factual / Translational Research, Biomedical Type of study: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Aspects: Patient_preference Limits: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Lancet Neurol Journal subject: NEUROLOGIA Year: 2015 Document type: Article Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Friedreich Ataxia / Databases, Factual / Translational Research, Biomedical Type of study: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Aspects: Patient_preference Limits: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Lancet Neurol Journal subject: NEUROLOGIA Year: 2015 Document type: Article Country of publication: Reino Unido