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A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Orlando V, Di Tommaso S, Alesi V, Loddo S, Genovese S, Catino G, Martucci L, Roberti MC, Trivisano M, Dentici ML, Specchio N, Dallapiccola B, Ferretti A, Novelli A. Orlando V, et al. Among authors: di tommaso s. Int J Mol Sci. 2022 Oct 26;23(21):12900. doi: 10.3390/ijms232112900. Int J Mol Sci. 2022. PMID: 36361691 Free PMC article.
DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient.
Ruggieri S, Viggiano L, Annese T, Rubolino C, Gerbino A, De Zio R, Corsi P, Tamma R, Ribatti D, Errede M, Operto F, Margari L, Resta N, Di Tommaso S, Rosati J, Trojano M, Nico B. Ruggieri S, et al. Among authors: di tommaso s. Stem Cell Res Ther. 2019 Jan 15;10(1):29. doi: 10.1186/s13287-018-1125-5. Stem Cell Res Ther. 2019. PMID: 30646960 Free PMC article.
84 results