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Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Traschütz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H; Bingman, Craig A; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schöls, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; van de Warrenburg, Bart; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; Koenig, Michel; Santorelli, Filippo M; Anheim, Mathieu; Munhoz, Renato P; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J; Puccio, Hélène; Synofzik, Matthis.
Afiliação
  • Traschütz A; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
  • Schirinzi T; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
  • Laugwitz L; Neurorehabilitation Unit, Department of Neurosciences, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
  • Murray NH; Department of Systems Medicine, University of Roma Tor Vergata, Rome, Italy.
  • Bingman CA; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Reich S; Department of Pediatric Neurology, University Children's Hospital, Tübingen, Germany.
  • Kern J; Morgridge Institute for Research, Madison, WI, USA.
  • Heinzmann A; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA.
  • Vasco G; Morgridge Institute for Research, Madison, WI, USA.
  • Bertini E; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA.
  • Zanni G; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
  • Durr A; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
  • Magri S; Department of Pediatric Neurology, University Children's Hospital, Tübingen, Germany.
  • Taroni F; Brain and Spine Institute (ICM), Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.
  • Malandrini A; AP-HP, Department of Genetics, Pitié-Salpêtrière University Hospital, Paris, France.
  • Baets J; Neurorehabilitation Unit, Department of Neurosciences, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
  • de Jonghe P; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • de Ridder W; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bereau M; Brain and Spine Institute (ICM), Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.
  • Demuth S; AP-HP, Department of Genetics, Pitié-Salpêtrière University Hospital, Paris, France.
  • Ganos C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Basak AN; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Hanagasi H; Department of Medicine, Surgery, and Neurosciences, University of Siena, Unit of Neurology and Neurometabolic Disorders, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Kurul SH; Neurogenetics Group, University of Antwerp, Antwerp, Belgium.
  • Bender B; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Schöls L; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
  • Grasshoff U; Neurogenetics Group, University of Antwerp, Antwerp, Belgium.
  • Klopstock T; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Horvath R; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
  • van de Warrenburg B; Neurogenetics Group, University of Antwerp, Antwerp, Belgium.
  • Burglen L; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Rougeot C; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
  • Ewenczyk C; Service de Neurologie, Université de Franche-Comté, CHRU de Besançon, Besançon, France.
  • Koenig M; Unité Extrapyramidale, Département des Neurosciences Cliniques, HUG, Faculté de Médecine, Université de Genève, Geneva, Switzerland.
  • Santorelli FM; Praxis für Humangenetik Erfurt, Erfurt, Germany.
  • Anheim M; Department of Neurology, Charité University Medicine Berlin, Berlin, Germany.
  • Munhoz RP; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, Koç University School of Medicine, Istanbul, Turkey.
  • Haack T; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Distelmaier F; Departments of Pediatric Neurology, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
  • Pagliarini DJ; Department of Diagnostic and Interventional Neuroradiology, University of Tübingen, Tübingen, Germany.
  • Puccio H; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
  • Synofzik M; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
Ann Neurol ; 88(2): 251-263, 2020 08.
Article em En | MEDLINE | ID: mdl-32337771
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Imageamento por Ressonância Magnética / Ataxia Cerebelar / Ubiquinona Tipo de estudo: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Imageamento por Ressonância Magnética / Ataxia Cerebelar / Ubiquinona Tipo de estudo: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha