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Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?
Buchignani B, Cicala G, Moriconi F, Ricci M, Capasso A, Coratti G, Casiraghi J, Albamonte E, Cristofani P, Cutrona C, Pera MC, Antonaci L, Roncoroni C, Chieffo D, Sansone VA, Battini R, Pane M, Mercuri E. Buchignani B, et al. Neuromuscul Disord. 2023 Oct;33(10):711-717. doi: 10.1016/j.nmd.2023.08.005. Epub 2023 Sep 9. Neuromuscul Disord. 2023. PMID: 37709650
Expanding the natural history of CASK-related disorders to the prenatal period.
Gafner M, Boltshauser E, D'Abrusco F, Battini R, Romaniello R, D'Arrigo S, Zanni G, Leibovitz Z, Yosovich K, Lerman-Sagie T; Cask Study Group*. Gafner M, et al. Dev Med Child Neurol. 2023 Apr;65(4):544-550. doi: 10.1111/dmcn.15419. Epub 2022 Sep 29. Dev Med Child Neurol. 2023. PMID: 36175354 Free article.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Marinella G, Astrea G, Buchignani B, Cassandrini D, Doccini S, Filosto M, Galatolo D, Gallone S, Giannini F, Lopergolo D, Maioli MA, Magri F, Malandrini A, Mandich P, Mari F, Massa R, Mata S, Melani F, Moggio M, Mongini TE, Pasquariello R, Pegoraro E, Ricci F, Ricci G, Rodolico C, Rubegni A, Siciliano G, Sperti M, Ticci C, Tonin P, Santorelli FM, Battini R. Marinella G, et al. Among authors: buchignani b. Int J Mol Sci. 2022 Nov 23;23(23):14567. doi: 10.3390/ijms232314567. Int J Mol Sci. 2022. PMID: 36498898 Free PMC article.
A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?
Chieffo DPR, Moriconi F, Pane M, Lucibello S, Ferraroli E, Norcia G, Ricci M, Capasso A, Cicala G, Buchignani B, Coratti G, Cutrona C, Pelizzari M, Brogna C, Hendriksen JGM, Muntoni F, Mercuri E. Chieffo DPR, et al. Among authors: buchignani b. J Clin Med. 2023 Jan 4;12(2):403. doi: 10.3390/jcm12020403. J Clin Med. 2023. PMID: 36675332 Free PMC article.
Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab.
Scaffei E, Buchignani B, Pasquariello R, Cristofani P, Canapicchi R, Biagi L, Giordano F, De Marco E, Crow YJ, Battini R. Scaffei E, et al. Among authors: buchignani b. Front Neurol. 2023 Sep 20;14:1245014. doi: 10.3389/fneur.2023.1245014. eCollection 2023. Front Neurol. 2023. PMID: 37799282 Free PMC article.
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study.
Buchignani B, Cicala G, Cumbo F, Ricci M, Capasso A, Ticci C, Mazzanti S, Brolatti N, Tosi M, Dosi C, Antonaci L, Coratti G, Pera MC, Leone D, Palermo C, Berti B, Frongia AL, Sacchini M, Bruno C, Masson R, D'Amico A, Battini R, Pane M, Mercuri E. Buchignani B, et al. Arch Dis Child. 2024 Apr 18;109(5):395-401. doi: 10.1136/archdischild-2023-326613. Arch Dis Child. 2024. PMID: 38290776
14 results