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SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response.
Faber I, Martinez ARM, Martins CR Jr, Maia ML, Souza JP, Lourenço CM, Marques W Jr, Montecchiani C, Orlacchio A, Pedroso JL, Barsottini OGP, Ramos CD, Lopes-Cendes Í, Friedman JH, Amorim BJ, França MC Jr. Faber I, et al. Among authors: orlacchio a. Mov Disord. 2018 Oct;33(10):1650-1656. doi: 10.1002/mds.27491. Epub 2018 Oct 10. Mov Disord. 2018. PMID: 30306626
Clinical and genetic study of a large SPG4 Italian family.
Orlacchio A, Kawarai T, Gaudiello F, Totaro A, Schillaci O, Stefani A, Floris R, St George-Hyslop PH, Sorbi S, Bernardi G. Orlacchio A, et al. Mov Disord. 2005 Aug;20(8):1055-9. doi: 10.1002/mds.20494. Mov Disord. 2005. PMID: 15858810
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A. Montecchiani C, et al. Among authors: orlacchio a. Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10. Brain. 2016. PMID: 26556829 Free PMC article.
Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.
Kawarai T, Miyamoto R, Nakagawa E, Koichihara R, Sakamoto T, Mure H, Morigaki R, Koizumi H, Oki R, Montecchiani C, Caltagirone C, Orlacchio A, Hattori A, Mashimo H, Izumi Y, Mezaki T, Kumada S, Taniguchi M, Yokochi F, Saitoh S, Goto S, Kaji R. Kawarai T, et al. Among authors: orlacchio a. Parkinsonism Relat Disord. 2018 Jul;52:55-61. doi: 10.1016/j.parkreldis.2018.03.022. Epub 2018 Apr 5. Parkinsonism Relat Disord. 2018. PMID: 29653907
SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.
Faber I, Martinez ARM, de Rezende TJR, Martins CR Jr, Martins MP, Lourenço CM, Marques W Jr, Montecchiani C, Orlacchio A, Pedroso JL, Barsottini OGP, Lopes-Cendes Í, França MC Jr. Faber I, et al. Among authors: orlacchio a. Neuroimage Clin. 2018 Jun 9;19:848-857. doi: 10.1016/j.nicl.2018.05.031. eCollection 2018. Neuroimage Clin. 2018. PMID: 29946510 Free PMC article.
341 results