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Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.

作者信息

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

机构信息

1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.

Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.

出版信息

Mov Disord. 2021 Apr;36(4):1034-1038. doi: 10.1002/mds.28487. Epub 2021 Feb 5.

DOI:10.1002/mds.28487
PMID:33543803
Abstract
摘要

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