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Internal validation and improvement of mitochondrial genome sequencing using the Precision ID mtDNA Whole Genome Panel.
Faccinetto C, Sabbatini D, Serventi P, Rigato M, Salvoro C, Casamassima G, Margiotta G, De Fanti S, Sarno S, Staiti N, Luiselli D, Marino A, Vazza G. Faccinetto C, et al. Among authors: vazza g. Int J Legal Med. 2021 Nov;135(6):2295-2306. doi: 10.1007/s00414-021-02686-w. Epub 2021 Sep 7. Int J Legal Med. 2021. PMID: 34491421 Free PMC article.
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
Boaretto F, Snijders D, Salvoro C, Spalletta A, Mostacciuolo ML, Collura M, Cazzato S, Girosi D, Silvestri M, Rossi GA, Barbato A, Vazza G. Boaretto F, et al. Among authors: vazza g. J Mol Diagn. 2016 Nov;18(6):912-922. doi: 10.1016/j.jmoldx.2016.07.002. Epub 2016 Sep 13. J Mol Diagn. 2016. PMID: 27637300 Free article.
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
Gregianin E, Pallafacchina G, Zanin S, Crippa V, Rusmini P, Poletti A, Fang M, Li Z, Diano L, Petrucci A, Lispi L, Cavallaro T, Fabrizi GM, Muglia M, Boaretto F, Vettori A, Rizzuto R, Mostacciuolo ML, Vazza G. Gregianin E, et al. Among authors: vazza g. Hum Mol Genet. 2016 Sep 1;25(17):3741-3753. doi: 10.1093/hmg/ddw220. Epub 2016 Jul 8. Hum Mol Genet. 2016. PMID: 27402882 Free article.
40 results