Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.
Identifieur interne : 000700 ( Main/Exploration ); précédent : 000699; suivant : 000701Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.
Auteurs : Kathrin Reetz [Allemagne] ; Imis Dogan [Allemagne] ; Ana S. Costa [Allemagne] ; Manuel Dafotakis [Allemagne] ; Kathrin Fedosov [Allemagne] ; Paola Giunti [Royaume-Uni] ; Michael H. Parkinson [Royaume-Uni] ; Mary G. Sweeney [Royaume-Uni] ; Caterina Mariotti [Italie] ; Marta Panzeri [Italie] ; Lorenzo Nanetti [Italie] ; Javier Arpa [Espagne] ; Irene Sanz-Gallego [Espagne] ; Alexandra Durr [France] ; Perrine Charles [France] ; Sylvia Boesch [Autriche] ; Wolfgang Nachbauer [Autriche] ; Thomas Klopstock [Allemagne] ; Ivan Karin [Allemagne] ; Chantal Depondt [Belgique] ; Jennifer Müller Vom Hagen [Allemagne] ; Ludger Schöls [Allemagne] ; Ilaria A. Giordano [Allemagne] ; Thomas Klockgether [Allemagne] ; Katrin Bürk [Allemagne] ; Massimo Pandolfo [Belgique] ; Jörg B. Schulz [Allemagne]Source :
- The Lancet. Neurology [ 1474-4465 ] ; 2015.
English descriptors
- KwdEn :
- Activities of Daily Living, Adolescent, Adult, Aged, Child, Cohort Studies, Cross-Sectional Studies, Databases, Factual, Europe (epidemiology), Female, Friedreich Ataxia (diagnosis), Friedreich Ataxia (epidemiology), Friedreich Ataxia (genetics), Humans, Longitudinal Studies, Male, Middle Aged, Prospective Studies, Translational Medical Research (methods), Trinucleotide Repeats (genetics), Young Adult.
- MESH :
- geographic , epidemiology : Europe.
- diagnosis : Friedreich Ataxia.
- epidemiology : Friedreich Ataxia.
- genetics : Friedreich Ataxia, Trinucleotide Repeats.
- methods : Translational Medical Research.
- Activities of Daily Living, Adolescent, Adult, Aged, Child, Cohort Studies, Cross-Sectional Studies, Databases, Factual, Female, Humans, Longitudinal Studies, Male, Middle Aged, Prospective Studies, Young Adult.
Abstract
Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectional baseline data to establish the biological and clinical characteristics for a prospective, international, European Friedreich's ataxia database registry.
DOI: 10.1016/S1474-4422(14)70321-7
PubMed: 25566998
Affiliations:
- Allemagne, Autriche, Belgique, Espagne, France, Italie, Royaume-Uni
- Angleterre, Bade-Wurtemberg, Bavière, Communauté de Madrid, District de Cologne, District de Giessen, District de Haute-Bavière, District de Tübingen, Grand Londres, Hesse (Land), Lombardie, Rhénanie-du-Nord-Westphalie, Région de Bruxelles-Capitale, Île-de-France
- Aix-la-Chapelle, Bonn, Bruxelles, Juliers, Londres, Madrid, Marbourg, Milan, Munich, Paris, Tübingen
- Université Louis-et-Maximilien de Munich, Université libre de Bruxelles
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000401
- to stream PubMed, to step Curation: 000397
- to stream PubMed, to step Checkpoint: 000397
- to stream Ncbi, to step Merge: 001621
- to stream Ncbi, to step Curation: 001621
- to stream Ncbi, to step Checkpoint: 001621
- to stream Main, to step Merge: 000703
- to stream Main, to step Curation: 000700
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.</title><author><name sortKey="Reetz, Kathrin" sort="Reetz, Kathrin" uniqKey="Reetz K" first="Kathrin" last="Reetz">Kathrin Reetz</name><affiliation wicri:level="3"><nlm:affiliation>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, Germany; Institute of Neuroscience and Medicine 4, Research Centre Jülich, Jülich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>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, Germany; Institute of Neuroscience and Medicine 4, Research Centre Jülich, Jülich</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Juliers</settlement></placeName></affiliation></author><author><name sortKey="Dogan, Imis" sort="Dogan, Imis" uniqKey="Dogan I" first="Imis" last="Dogan">Imis Dogan</name><affiliation wicri:level="3"><nlm:affiliation>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.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>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</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Juliers</settlement></placeName></affiliation></author><author><name sortKey="Costa, Ana S" sort="Costa, Ana S" uniqKey="Costa A" first="Ana S" last="Costa">Ana S. Costa</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen</wicri:regionArea><wicri:noRegion>Jülich and Aachen</wicri:noRegion><wicri:noRegion>Jülich and Aachen</wicri:noRegion><wicri:noRegion>Jülich and Aachen</wicri:noRegion></affiliation></author><author><name sortKey="Dafotakis, Manuel" sort="Dafotakis, Manuel" uniqKey="Dafotakis M" first="Manuel" last="Dafotakis">Manuel Dafotakis</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Aix-la-Chapelle</settlement></placeName></affiliation></author><author><name sortKey="Fedosov, Kathrin" sort="Fedosov, Kathrin" uniqKey="Fedosov K" first="Kathrin" last="Fedosov">Kathrin Fedosov</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Aix-la-Chapelle</settlement></placeName></affiliation></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Parkinson, Michael H" sort="Parkinson, Michael H" uniqKey="Parkinson M" first="Michael H" last="Parkinson">Michael H. Parkinson</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name><affiliation wicri:level="3"><nlm:affiliation>Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name><affiliation wicri:level="3"><nlm:affiliation>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Panzeri, Marta" sort="Panzeri, Marta" uniqKey="Panzeri M" first="Marta" last="Panzeri">Marta Panzeri</name><affiliation wicri:level="3"><nlm:affiliation>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Nanetti, Lorenzo" sort="Nanetti, Lorenzo" uniqKey="Nanetti L" first="Lorenzo" last="Nanetti">Lorenzo Nanetti</name><affiliation wicri:level="3"><nlm:affiliation>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Arpa, Javier" sort="Arpa, Javier" uniqKey="Arpa J" first="Javier" last="Arpa">Javier Arpa</name><affiliation wicri:level="3"><nlm:affiliation>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Sanz Gallego, Irene" sort="Sanz Gallego, Irene" uniqKey="Sanz Gallego I" first="Irene" last="Sanz-Gallego">Irene Sanz-Gallego</name><affiliation wicri:level="3"><nlm:affiliation>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation wicri:level="3"><nlm:affiliation>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; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>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; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name><affiliation wicri:level="3"><nlm:affiliation>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; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>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; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Boesch, Sylvia" sort="Boesch, Sylvia" uniqKey="Boesch S" first="Sylvia" last="Boesch">Sylvia Boesch</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Medical University Innsbruck, Innsbruck</wicri:regionArea><wicri:noRegion>Innsbruck</wicri:noRegion></affiliation></author><author><name sortKey="Nachbauer, Wolfgang" sort="Nachbauer, Wolfgang" uniqKey="Nachbauer W" first="Wolfgang" last="Nachbauer">Wolfgang Nachbauer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Medical University Innsbruck, Innsbruck</wicri:regionArea><wicri:noRegion>Innsbruck</wicri:noRegion></affiliation></author><author><name sortKey="Klopstock, Thomas" sort="Klopstock, Thomas" uniqKey="Klopstock T" first="Thomas" last="Klopstock">Thomas Klopstock</name><affiliation wicri:level="4"><nlm:affiliation>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Karin, Ivan" sort="Karin, Ivan" uniqKey="Karin I" first="Ivan" last="Karin">Ivan Karin</name><affiliation wicri:level="4"><nlm:affiliation>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Depondt, Chantal" sort="Depondt, Chantal" uniqKey="Depondt C" first="Chantal" last="Depondt">Chantal Depondt</name><affiliation wicri:level="4"><nlm:affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName><orgName type="university">Université libre de Bruxelles</orgName></affiliation></author><author><name sortKey="Vom Hagen, Jennifer Muller" sort="Vom Hagen, Jennifer Muller" uniqKey="Vom Hagen J" first="Jennifer Müller" last="Vom Hagen">Jennifer Müller Vom Hagen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Giordano, Ilaria A" sort="Giordano, Ilaria A" uniqKey="Giordano I" first="Ilaria A" last="Giordano">Ilaria A. Giordano</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Bürk">Katrin Bürk</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Philipps University of Marburg, Marburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Philipps University of Marburg, Marburg</wicri:regionArea><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Giessen</region><settlement type="city">Marbourg</settlement></placeName></affiliation></author><author><name sortKey="Pandolfo, Massimo" sort="Pandolfo, Massimo" uniqKey="Pandolfo M" first="Massimo" last="Pandolfo">Massimo Pandolfo</name><affiliation wicri:level="4"><nlm:affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName><orgName type="university">Université libre de Bruxelles</orgName></affiliation></author><author><name sortKey="Schulz, Jorg B" sort="Schulz, Jorg B" uniqKey="Schulz J" first="Jörg B" last="Schulz">Jörg B. Schulz</name><affiliation wicri:level="1"><nlm:affiliation>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-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany. Electronic address: jschulz@ukaachen.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>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-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen</wicri:regionArea><wicri:noRegion>Jülich and Aachen</wicri:noRegion><wicri:noRegion>Jülich and Aachen</wicri:noRegion><wicri:noRegion>Jülich and Aachen</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25566998</idno><idno type="pmid">25566998</idno><idno type="doi">10.1016/S1474-4422(14)70321-7</idno><idno type="wicri:Area/PubMed/Corpus">000401</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000401</idno><idno type="wicri:Area/PubMed/Curation">000397</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000397</idno><idno type="wicri:Area/PubMed/Checkpoint">000397</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000397</idno><idno type="wicri:Area/Ncbi/Merge">001621</idno><idno type="wicri:Area/Ncbi/Curation">001621</idno><idno type="wicri:Area/Ncbi/Checkpoint">001621</idno><idno type="wicri:Area/Main/Merge">000703</idno><idno type="wicri:Area/Main/Curation">000700</idno><idno type="wicri:Area/Main/Exploration">000700</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.</title><author><name sortKey="Reetz, Kathrin" sort="Reetz, Kathrin" uniqKey="Reetz K" first="Kathrin" last="Reetz">Kathrin Reetz</name><affiliation wicri:level="3"><nlm:affiliation>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, Germany; Institute of Neuroscience and Medicine 4, Research Centre Jülich, Jülich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>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, Germany; Institute of Neuroscience and Medicine 4, Research Centre Jülich, Jülich</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Juliers</settlement></placeName></affiliation></author><author><name sortKey="Dogan, Imis" sort="Dogan, Imis" uniqKey="Dogan I" first="Imis" last="Dogan">Imis Dogan</name><affiliation wicri:level="3"><nlm:affiliation>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.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>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</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Juliers</settlement></placeName></affiliation></author><author><name sortKey="Costa, Ana S" sort="Costa, Ana S" uniqKey="Costa A" first="Ana S" last="Costa">Ana S. Costa</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen</wicri:regionArea><wicri:noRegion>Jülich and Aachen</wicri:noRegion><wicri:noRegion>Jülich and Aachen</wicri:noRegion><wicri:noRegion>Jülich and Aachen</wicri:noRegion></affiliation></author><author><name sortKey="Dafotakis, Manuel" sort="Dafotakis, Manuel" uniqKey="Dafotakis M" first="Manuel" last="Dafotakis">Manuel Dafotakis</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Aix-la-Chapelle</settlement></placeName></affiliation></author><author><name sortKey="Fedosov, Kathrin" sort="Fedosov, Kathrin" uniqKey="Fedosov K" first="Kathrin" last="Fedosov">Kathrin Fedosov</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Aix-la-Chapelle</settlement></placeName></affiliation></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Parkinson, Michael H" sort="Parkinson, Michael H" uniqKey="Parkinson M" first="Michael H" last="Parkinson">Michael H. Parkinson</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name><affiliation wicri:level="3"><nlm:affiliation>Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name><affiliation wicri:level="3"><nlm:affiliation>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Panzeri, Marta" sort="Panzeri, Marta" uniqKey="Panzeri M" first="Marta" last="Panzeri">Marta Panzeri</name><affiliation wicri:level="3"><nlm:affiliation>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Nanetti, Lorenzo" sort="Nanetti, Lorenzo" uniqKey="Nanetti L" first="Lorenzo" last="Nanetti">Lorenzo Nanetti</name><affiliation wicri:level="3"><nlm:affiliation>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Arpa, Javier" sort="Arpa, Javier" uniqKey="Arpa J" first="Javier" last="Arpa">Javier Arpa</name><affiliation wicri:level="3"><nlm:affiliation>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Sanz Gallego, Irene" sort="Sanz Gallego, Irene" uniqKey="Sanz Gallego I" first="Irene" last="Sanz-Gallego">Irene Sanz-Gallego</name><affiliation wicri:level="3"><nlm:affiliation>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation wicri:level="3"><nlm:affiliation>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; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>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; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name><affiliation wicri:level="3"><nlm:affiliation>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; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>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; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Boesch, Sylvia" sort="Boesch, Sylvia" uniqKey="Boesch S" first="Sylvia" last="Boesch">Sylvia Boesch</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Medical University Innsbruck, Innsbruck</wicri:regionArea><wicri:noRegion>Innsbruck</wicri:noRegion></affiliation></author><author><name sortKey="Nachbauer, Wolfgang" sort="Nachbauer, Wolfgang" uniqKey="Nachbauer W" first="Wolfgang" last="Nachbauer">Wolfgang Nachbauer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Medical University Innsbruck, Innsbruck</wicri:regionArea><wicri:noRegion>Innsbruck</wicri:noRegion></affiliation></author><author><name sortKey="Klopstock, Thomas" sort="Klopstock, Thomas" uniqKey="Klopstock T" first="Thomas" last="Klopstock">Thomas Klopstock</name><affiliation wicri:level="4"><nlm:affiliation>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Karin, Ivan" sort="Karin, Ivan" uniqKey="Karin I" first="Ivan" last="Karin">Ivan Karin</name><affiliation wicri:level="4"><nlm:affiliation>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Depondt, Chantal" sort="Depondt, Chantal" uniqKey="Depondt C" first="Chantal" last="Depondt">Chantal Depondt</name><affiliation wicri:level="4"><nlm:affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName><orgName type="university">Université libre de Bruxelles</orgName></affiliation></author><author><name sortKey="Vom Hagen, Jennifer Muller" sort="Vom Hagen, Jennifer Muller" uniqKey="Vom Hagen J" first="Jennifer Müller" last="Vom Hagen">Jennifer Müller Vom Hagen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Giordano, Ilaria A" sort="Giordano, Ilaria A" uniqKey="Giordano I" first="Ilaria A" last="Giordano">Ilaria A. Giordano</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Bürk">Katrin Bürk</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Philipps University of Marburg, Marburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Philipps University of Marburg, Marburg</wicri:regionArea><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Giessen</region><settlement type="city">Marbourg</settlement></placeName></affiliation></author><author><name sortKey="Pandolfo, Massimo" sort="Pandolfo, Massimo" uniqKey="Pandolfo M" first="Massimo" last="Pandolfo">Massimo Pandolfo</name><affiliation wicri:level="4"><nlm:affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName><orgName type="university">Université libre de Bruxelles</orgName></affiliation></author><author><name sortKey="Schulz, Jorg B" sort="Schulz, Jorg B" uniqKey="Schulz J" first="Jörg B" last="Schulz">Jörg B. Schulz</name><affiliation wicri:level="1"><nlm:affiliation>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-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany. Electronic address: jschulz@ukaachen.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>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-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen</wicri:regionArea><wicri:noRegion>Jülich and Aachen</wicri:noRegion><wicri:noRegion>Jülich and Aachen</wicri:noRegion><wicri:noRegion>Jülich and Aachen</wicri:noRegion></affiliation></author></analytic><series><title level="j">The Lancet. Neurology</title><idno type="eISSN">1474-4465</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Activities of Daily Living</term><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Child</term><term>Cohort Studies</term><term>Cross-Sectional Studies</term><term>Databases, Factual</term><term>Europe (epidemiology)</term><term>Female</term><term>Friedreich Ataxia (diagnosis)</term><term>Friedreich Ataxia (epidemiology)</term><term>Friedreich Ataxia (genetics)</term><term>Humans</term><term>Longitudinal Studies</term><term>Male</term><term>Middle Aged</term><term>Prospective Studies</term><term>Translational Medical Research (methods)</term><term>Trinucleotide Repeats (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Europe</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Friedreich Ataxia</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Friedreich Ataxia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Friedreich Ataxia</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Translational Medical Research</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Activities of Daily Living</term><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Child</term><term>Cohort Studies</term><term>Cross-Sectional Studies</term><term>Databases, Factual</term><term>Female</term><term>Humans</term><term>Longitudinal Studies</term><term>Male</term><term>Middle Aged</term><term>Prospective Studies</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectional baseline data to establish the biological and clinical characteristics for a prospective, international, European Friedreich's ataxia database registry.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Autriche</li><li>Belgique</li><li>Espagne</li><li>France</li><li>Italie</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Bade-Wurtemberg</li><li>Bavière</li><li>Communauté de Madrid</li><li>District de Cologne</li><li>District de Giessen</li><li>District de Haute-Bavière</li><li>District de Tübingen</li><li>Grand Londres</li><li>Hesse (Land)</li><li>Lombardie</li><li>Rhénanie-du-Nord-Westphalie</li><li>Région de Bruxelles-Capitale</li><li>Île-de-France</li></region><settlement><li>Aix-la-Chapelle</li><li>Bonn</li><li>Bruxelles</li><li>Juliers</li><li>Londres</li><li>Madrid</li><li>Marbourg</li><li>Milan</li><li>Munich</li><li>Paris</li><li>Tübingen</li></settlement><orgName><li>Université Louis-et-Maximilien de Munich</li><li>Université libre de Bruxelles</li></orgName></list><tree><country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Reetz, Kathrin" sort="Reetz, Kathrin" uniqKey="Reetz K" first="Kathrin" last="Reetz">Kathrin Reetz</name></region><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Bürk">Katrin Bürk</name><name sortKey="Costa, Ana S" sort="Costa, Ana S" uniqKey="Costa A" first="Ana S" last="Costa">Ana S. Costa</name><name sortKey="Dafotakis, Manuel" sort="Dafotakis, Manuel" uniqKey="Dafotakis M" first="Manuel" last="Dafotakis">Manuel Dafotakis</name><name sortKey="Dogan, Imis" sort="Dogan, Imis" uniqKey="Dogan I" first="Imis" last="Dogan">Imis Dogan</name><name sortKey="Fedosov, Kathrin" sort="Fedosov, Kathrin" uniqKey="Fedosov K" first="Kathrin" last="Fedosov">Kathrin Fedosov</name><name sortKey="Giordano, Ilaria A" sort="Giordano, Ilaria A" uniqKey="Giordano I" first="Ilaria A" last="Giordano">Ilaria A. Giordano</name><name sortKey="Karin, Ivan" sort="Karin, Ivan" uniqKey="Karin I" first="Ivan" last="Karin">Ivan Karin</name><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name><name sortKey="Klopstock, Thomas" sort="Klopstock, Thomas" uniqKey="Klopstock T" first="Thomas" last="Klopstock">Thomas Klopstock</name><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><name sortKey="Schulz, Jorg B" sort="Schulz, Jorg B" uniqKey="Schulz J" first="Jörg B" last="Schulz">Jörg B. Schulz</name><name sortKey="Vom Hagen, Jennifer Muller" sort="Vom Hagen, Jennifer Muller" uniqKey="Vom Hagen J" first="Jennifer Müller" last="Vom Hagen">Jennifer Müller Vom Hagen</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name></region><name sortKey="Parkinson, Michael H" sort="Parkinson, Michael H" uniqKey="Parkinson M" first="Michael H" last="Parkinson">Michael H. Parkinson</name><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name></country><country name="Italie"><region name="Lombardie"><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name></region><name sortKey="Nanetti, Lorenzo" sort="Nanetti, Lorenzo" uniqKey="Nanetti L" first="Lorenzo" last="Nanetti">Lorenzo Nanetti</name><name sortKey="Panzeri, Marta" sort="Panzeri, Marta" uniqKey="Panzeri M" first="Marta" last="Panzeri">Marta Panzeri</name></country><country name="Espagne"><region name="Communauté de Madrid"><name sortKey="Arpa, Javier" sort="Arpa, Javier" uniqKey="Arpa J" first="Javier" last="Arpa">Javier Arpa</name></region><name sortKey="Sanz Gallego, Irene" sort="Sanz Gallego, Irene" uniqKey="Sanz Gallego I" first="Irene" last="Sanz-Gallego">Irene Sanz-Gallego</name></country><country name="France"><region name="Île-de-France"><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name></region><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name></country><country name="Autriche"><noRegion><name sortKey="Boesch, Sylvia" sort="Boesch, Sylvia" uniqKey="Boesch S" first="Sylvia" last="Boesch">Sylvia Boesch</name></noRegion><name sortKey="Nachbauer, Wolfgang" sort="Nachbauer, Wolfgang" uniqKey="Nachbauer W" first="Wolfgang" last="Nachbauer">Wolfgang Nachbauer</name></country><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Depondt, Chantal" sort="Depondt, Chantal" uniqKey="Depondt C" first="Chantal" last="Depondt">Chantal Depondt</name></region><name sortKey="Pandolfo, Massimo" sort="Pandolfo, Massimo" uniqKey="Pandolfo M" first="Massimo" last="Pandolfo">Massimo Pandolfo</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonFranceV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000700 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000700 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonFranceV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:25566998
|texte= Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:25566998" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a ParkinsonFranceV1
| This area was generated with Dilib version V0.6.29. |  |