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Page 1
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.
Garone G, Innocenti A, Grasso M, Mandarino A, Capuano A, Della Bella G, Frascarelli F, Diodato D, Onesimo R, Zampino G, Novelli A, Digilio MC, Bartuli A, Dentici ML, Parisi P, Galosi S, Tonduti D, Bertini E, Sinibaldi L, Specchio N. Garone G, et al. Among authors: mandarino a. Parkinsonism Relat Disord. 2024 Sep;126:107057. doi: 10.1016/j.parkreldis.2024.107057. Epub 2024 Jul 9. Parkinsonism Relat Disord. 2024. PMID: 39067319
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G. Sinibaldi L, et al. Among authors: mandarino a. Clin Genet. 2023 Nov;104(5):528-541. doi: 10.1111/cge.14404. Epub 2023 Jul 17. Clin Genet. 2023. PMID: 37455656
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Montanaro FAM, Mandarino A, Alesi V, Schwartz C, Sepulveda DJC, Skinner C, Friez M, Piccolo G, Novelli A, Zanni G, Dentici ML, Vicari S, Alfieri P. Montanaro FAM, et al. Among authors: mandarino a. Front Psychiatry. 2024 Jan 15;14:1327802. doi: 10.3389/fpsyt.2023.1327802. eCollection 2023. Front Psychiatry. 2024. PMID: 38288059 Free PMC article.
Network medicine-based epistasis detection in complex diseases: ready for quantum computing.
Hoffmann M, Poschenrieder JM, Incudini M, Baier S, Fritz A, Maier A, Hartung M, Hoffmann C, Trummer N, Adamowicz K, Picciani M, Scheibling E, Harl MV, Lesch I, Frey H, Kayser S, Wissenberg P, Schwartz L, Hafner L, Acharya A, Hackl L, Grabert G, Lee SG, Cho G, Cloward ME, Jankowski J, Lee HK, Tsoy O, Wenke N, Pedersen AG, Bønnelykke K, Mandarino A, Melograna F, Schulz L, Climente-González H, Wilhelm M, Iapichino L, Wienbrandt L, Ellinghaus D, Van Steen K, Grossi M, Furth PA, Hennighausen L, Di Pierro A, Baumbach J, Kacprowski T, List M, Blumenthal DB. Hoffmann M, et al. Among authors: mandarino a. Nucleic Acids Res. 2024 Sep 23;52(17):10144-10160. doi: 10.1093/nar/gkae697. Nucleic Acids Res. 2024. PMID: 39175109 Free PMC article.
Network medicine-based epistasis detection in complex diseases: ready for quantum computing.
Hoffmann M, Poschenrieder JM, Incudini M, Baier S, Fitz A, Maier A, Hartung M, Hoffmann C, Trummer N, Adamowicz K, Picciani M, Scheibling E, Harl MV, Lesch I, Frey H, Kayser S, Wissenberg P, Schwartz L, Hafner L, Acharya A, Hackl L, Grabert G, Lee SG, Cho G, Cloward M, Jankowski J, Lee HK, Tsoy O, Wenke N, Pedersen AG, Bønnelykke K, Mandarino A, Melograna F, Schulz L, Climente-González H, Wilhelm M, Iapichino L, Wienbrandt L, Ellinghaus D, Van Steen K, Grossi M, Furth PA, Hennighausen L, Di Pierro A, Baumbach J, Kacprowski T, List M, Blumenthal DB. Hoffmann M, et al. Among authors: mandarino a. medRxiv [Preprint]. 2023 Nov 9:2023.11.07.23298205. doi: 10.1101/2023.11.07.23298205. medRxiv. 2023. Update in: Nucleic Acids Res. 2024 Sep 23;52(17):10144-10160. doi: 10.1093/nar/gkae697 PMID: 38076997 Free PMC article. Updated. Preprint.
30 results