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Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.
Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C; on behalf of the Task Force on Genetic Nomenclature in Movement Disorders. Lange LM, et al. Among authors: gonzalez latapi p. Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28. Mov Disord. 2022. PMID: 35481685 Review.
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
Carecchio M, Invernizzi F, Gonzàlez-Latapi P, Panteghini C, Zorzi G, Romito L, Leuzzi V, Galosi S, Reale C, Zibordi F, Joseph AP, Topf M, Piano C, Bentivoglio AR, Girotti F, Morana P, Morana B, Kurian MA, Garavaglia B, Mencacci NE, Lubbe SJ, Nardocci N. Carecchio M, et al. Mov Disord. 2019 Oct;34(10):1516-1527. doi: 10.1002/mds.27771. Epub 2019 Jun 19. Mov Disord. 2019. PMID: 31216378
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J; Genomics England Research Consortium. Steel D, et al. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683
Emerging and converging molecular mechanisms in dystonia.
Gonzalez-Latapi P, Marotta N, Mencacci NE. Gonzalez-Latapi P, et al. J Neural Transm (Vienna). 2021 Apr;128(4):483-498. doi: 10.1007/s00702-020-02290-z. Epub 2021 Jan 1. J Neural Transm (Vienna). 2021. PMID: 33386558 Review.
Movement Disorders Associated with Hypogonadism.
Gonzalez-Latapi P, Sousa M, Lang AE. Gonzalez-Latapi P, et al. Mov Disord Clin Pract. 2021 Jul 29;8(7):997-1011. doi: 10.1002/mdc3.13308. eCollection 2021 Oct. Mov Disord Clin Pract. 2021. PMID: 34631935 Free PMC article. Review.
α-Synuclein molecular behavior and nigral proteomic profiling distinguish subtypes of Lewy body disorders.
Martinez-Valbuena I, Swinkin E, Santamaria E, Fernandez-Irigoyen J, Sackmann V, Kim A, Li J, Gonzalez-Latapi P, Kuhlman G, Bhowmick SS, Visanji NP, Lang AE, Kovacs GG. Martinez-Valbuena I, et al. Among authors: gonzalez latapi p. Acta Neuropathol. 2022 Aug;144(2):167-185. doi: 10.1007/s00401-022-02453-0. Epub 2022 Jun 24. Acta Neuropathol. 2022. PMID: 35748929
32 results