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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. Among authors: coubes p. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683
Deep brain stimulation in myoclonus-dystonia syndrome.
Cif L, Valente EM, Hemm S, Coubes C, Vayssiere N, Serrat S, Di Giorgio A, Coubes P. Cif L, et al. Among authors: coubes p, coubes c. Mov Disord. 2004 Jun;19(6):724-7. doi: 10.1002/mds.20030. Mov Disord. 2004. PMID: 15197720
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.
Pellecchia MT, Valente EM, Cif L, Salvi S, Albanese A, Scarano V, Bonuccelli U, Bentivoglio AR, D'Amico A, Marelli C, Di Giorgio A, Coubes P, Barone P, Dallapiccola B. Pellecchia MT, et al. Among authors: coubes p. Neurology. 2005 May 24;64(10):1810-2. doi: 10.1212/01.WNL.0000161843.52641.EC. Neurology. 2005. PMID: 15911822
133 results