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A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
Breza, Marianthi; Bourinaris, Thomas; Efthymiou, Stephanie; Maroofian, Reza; Athanasiou-Fragkouli, Alkyoni; Tzartos, John; Velonakis, Georgios; Karavasilis, Efstratios; Angelopoulou, Georgia; Kasselimis, Dimitrios; Potagas, Constantin; Stefanis, Leonidas; Karadima, Georgia; Koutsis, Georgios; Houlden, Henry.
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  • Breza M; 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Bourinaris T; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1N 3BG, UK.
  • Efthymiou S; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1N 3BG, UK.
  • Maroofian R; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1N 3BG, UK.
  • Athanasiou-Fragkouli A; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1N 3BG, UK.
  • Tzartos J; 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Velonakis G; Tzartos Neurodiagnostics, Athens, Greece.
  • Karavasilis E; 2nd Department of Radiology, Medical School, Attikon Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Angelopoulou G; 2nd Department of Radiology, Medical School, Attikon Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Kasselimis D; Neuropsychology and Speech Pathology Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Potagas C; Neuropsychology and Speech Pathology Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Stefanis L; Division of Psychiatry and Behavioral Sciences, School of Medicine, University of Crete, Crete, Greece.
  • Karadima G; Neuropsychology and Speech Pathology Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Koutsis G; 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Houlden H; 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Brain ; 143(6): e49, 2020 06 01.
Article en En | MEDLINE | ID: mdl-32428220
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Ataxia Cerebelosa Límite: Adult / Humans Idioma: En Revista: Brain Año: 2020 Tipo del documento: Article País de afiliación: Grecia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Ataxia Cerebelosa Límite: Adult / Humans Idioma: En Revista: Brain Año: 2020 Tipo del documento: Article País de afiliación: Grecia