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Precision medicine for genetic childhood movement disorders.
Soo AKS, Ferrini A, Kurian MA. Soo AKS, et al. Among authors: ferrini a. Dev Med Child Neurol. 2021 Aug;63(8):925-933. doi: 10.1111/dmcn.14869. Epub 2021 Mar 24. Dev Med Child Neurol. 2021. PMID: 33763868 Free article. Review.
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: ferrini a. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683
Aspergillus-Specific Lateral-Flow Device and Real-Time PCR Testing of Bronchoalveolar Lavage Fluid: a Combination Biomarker Approach for Clinical Diagnosis of Invasive Pulmonary Aspergillosis.
Johnson GL, Sarker SJ, Nannini F, Ferrini A, Taylor E, Lass-Flörl C, Mutschlechner W, Bustin SA, Agrawal SG. Johnson GL, et al. Among authors: ferrini a. J Clin Microbiol. 2015 Jul;53(7):2103-8. doi: 10.1128/JCM.00110-15. Epub 2015 Apr 22. J Clin Microbiol. 2015. PMID: 25903568 Free PMC article.
52 results