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Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Breza M, Hirst J, Chelban V, Banneau G, Tissier L, Kol B, Bourinaris T, Said SA, Péréon Y, Heinzmann A, Debs R, Juntas-Morales R, Martinez VG, Camdessanche JP, Scherer-Gagou C, Zola JM, Athanasiou-Fragkouli A, Efthymiou S, Vavougios G, Velonakis G, Stamelou M, Tzartos J, Potagas C, Zambelis T, Mariotti C, Blackstone C, Vandrovcova J, Mavridis T, Kartanou C, Stefanis L, Wood N, Karadima G, LeGuern E, Koutsis G, Houlden H, Stevanin G. Breza M, et al. Mov Disord. 2021 Apr;36(4):1034-1038. doi: 10.1002/mds.28487. Epub 2021 Feb 5. Mov Disord. 2021. PMID: 33543803 No abstract available.
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.
Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destée A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Krüger R, Lambert JC, Lohmann K, van de Loo S, Loriot MA, Lynch T, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, Uitti RJ, Valente EM, Vilariño-Güell C, Wirdefeldt K, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Elbaz A, et al. Ann Neurol. 2011 May;69(5):778-92. doi: 10.1002/ana.22321. Epub 2011 Mar 9. Ann Neurol. 2011. PMID: 21391235 Free PMC article.