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Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Breza, Marianthi; Hirst, Jennifer; Chelban, Viorica; Banneau, Guillaume; Tissier, Laurène; Kol, Bophara; Bourinaris, Thomas; Said, Samia A; Péréon, Yann; Heinzmann, Anna; Debs, Rabab; Juntas-Morales, Raul; Martinez, Victoria G; Camdessanche, Jean P; Scherer-Gagou, Clarisse; Zola, Jean-Médard; Athanasiou-Fragkouli, Alkyoni; Efthymiou, Stephanie; Vavougios, George; Velonakis, Georgios; Stamelou, Maria; Tzartos, John; Potagas, Constantin; Zambelis, Thomas; Mariotti, Caterina; Blackstone, Craig; Vandrovcova, Jana; Mavridis, Theodoros; Kartanou, Chrisoula; Stefanis, Leonidas; Wood, Nicholas; Karadima, Georgia; LeGuern, Eric; Koutsis, Georgios; Houlden, Henry; Stevanin, Giovanni.
Afiliación
  • Breza M; 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
  • Hirst J; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.
  • Chelban V; Department of Neuromuscular Disease, Institute of Neurology, University College London, London, United Kingdom.
  • Banneau G; Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Chisinau, Republic of Moldova.
  • Tissier L; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Sorbonne Université, Paris, France.
  • Kol B; Département de Génétique Médicale, Institut Fédératif de Biologie, Toulouse, France.
  • Bourinaris T; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Sorbonne Université, Paris, France.
  • Said SA; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Sorbonne Université, Paris, France.
  • Péréon Y; Department of Neuromuscular Disease, Institute of Neurology, University College London, London, United Kingdom.
  • Heinzmann A; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Sorbonne Université, Paris, France.
  • Debs R; Department of Clinical Neurophysiology, Reference centre for NMD, CHU Nantes, Place Alexis-Ricordeau, Nantes, France.
  • Juntas-Morales R; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Sorbonne Université, Paris, France.
  • Martinez VG; Department of Clinical Neurophysiology, APHP, Pitié-Salpêtrière Hospital, Paris, France.
  • Camdessanche JP; Département de Neurologie, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Scherer-Gagou C; Département de Neurologie, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Zola JM; Département de Neurologie, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Athanasiou-Fragkouli A; Département de Neurologie, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Efthymiou S; Département de Neurologie, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Vavougios G; Department of Neuromuscular Disease, Institute of Neurology, University College London, London, United Kingdom.
  • Velonakis G; Department of Neuromuscular Disease, Institute of Neurology, University College London, London, United Kingdom.
  • Stamelou M; Department of Neurology, Athens Naval Hospital, Athens, Greece.
  • Tzartos J; 2nd Department of Radiology, National and Kapodistrian University of Athens, Medical School, Attikon Hospital, Athens, Greece.
  • Potagas C; 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
  • Zambelis T; Parkinson's Disease and Movement Disorders Department, Hygeia Hospital, Athens, Greece.
  • Mariotti C; School of Medicine, European University of Cyprus, Nicosia, Cyprus.
  • Blackstone C; 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
  • Vandrovcova J; 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
  • Mavridis T; 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
  • Kartanou C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milan, Italy.
  • Stefanis L; Cell Biology Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
  • Wood N; Department of Neuromuscular Disease, Institute of Neurology, University College London, London, United Kingdom.
  • Karadima G; 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
  • LeGuern E; 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
  • Koutsis G; 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
  • Houlden H; Department of Neuromuscular Disease, Institute of Neurology, University College London, London, United Kingdom.
  • Stevanin G; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Mov Disord ; 36(4): 1034-1038, 2021 04.
Article en En | MEDLINE | ID: mdl-33543803

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria Tipo de estudio: Clinical_trials / Diagnostic_studies Límite: Humans Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Grecia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria Tipo de estudio: Clinical_trials / Diagnostic_studies Límite: Humans Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Grecia