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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: mostacciuolo ml. 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.
Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML. Bertolin C, et al. Among authors: mostacciuolo ml. J Neurol Sci. 2010 Jul 15;294(1-2):124-6. doi: 10.1016/j.jns.2010.03.030. Epub 2010 May 5. J Neurol Sci. 2010. PMID: 20447653
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: mostacciuolo ml. 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.
Co-segregation of LMNA and PMP22 gene mutations in the same family.
Pegoraro E, Gavassini BF, Benedetti S, Menditto I, Zara G, Padoan R, Mostacciuolo ML, Ferrari M, Angelini C. Pegoraro E, et al. Among authors: mostacciuolo ml. Neuromuscul Disord. 2005 Dec;15(12):858-62. doi: 10.1016/j.nmd.2005.08.008. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288874
82 results