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Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.
Angius A, Cossu S, Uva P, Oppo M, Onano S, Persico I, Fotia G, Atzeni R, Cuccuru G, Asunis M, Cucca F, Pruna D, Crisponi L. Angius A, et al. Among authors: asunis m. Clin Genet. 2018 Jun;93(6):1245-1247. doi: 10.1111/cge.13162. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 29399786
Novel mutations in two unrelated Italian patients with SSADH deficiency.
Balzarini M, Rovelli V, Paci S, Rigoldi M, Sanna G, Pillai S, Asunis M, Parini R, Ciminelli BM, Malaspina P. Balzarini M, et al. Among authors: asunis m. Metab Brain Dis. 2019 Oct;34(5):1515-1518. doi: 10.1007/s11011-019-00453-w. Epub 2019 Jul 2. Metab Brain Dis. 2019. PMID: 31267348