Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease. Issue 4 (5th February 2021)

• Record Type: Journal Article
• Authors: 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;
• Is Part Of: Movement disorders. Volume 36:Issue 4(2021)
• Page Start: 1034
• Page End: 1038
• Publication Date: 2021-02-05
• Subjects: spastic paraplegia 48 -- hereditary spastic paraplegia -- AP5Z1 -- epileptic seizures -- rare disease -- whole exome sequencing -- SPG48; Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.28487
• Languages: English
• ISSNs: 0885-3185