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Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Macchione F, Salviati L, Bordugo A, Vincenzi M, Camilot M, Teofoli F, Pancheri E, Zordan R, Bertolin C, Rossi S, Vattemi G, Tonin P. Macchione F, et al. Among authors: pancheri e. J Neurol. 2020 May;267(5):1414-1419. doi: 10.1007/s00415-020-09729-z. Epub 2020 Jan 29. J Neurol. 2020. PMID: 31997039
Amyloid myopathy: an intriguing diagnosis.
Tonin P, Pancheri E, Orlandi R, Gajofatto A, Rinaldi R, D'Angelo R, Papa V, Vattemi G, Cenacchi G. Tonin P, et al. Among authors: pancheri e. Clin Neurol Neurosurg. 2020 Aug;195:105848. doi: 10.1016/j.clineuro.2020.105848. Epub 2020 Apr 18. Clin Neurol Neurosurg. 2020. PMID: 32388146 No abstract available.
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM, Guglielmi V, Pancheri E, Gualandi F, Verriello L, Pruszczyk K, Kosinska J, Sangalli A, Rydzanicz M, Romanelli MG, Neri M, Ploski R, Tonin P, Tomelleri G, Stoklosa T, Vattemi G. Machnicki MM, et al. Among authors: pancheri e. Neurol Sci. 2021 Jul;42(7):2819-2827. doi: 10.1007/s10072-020-04876-7. Epub 2020 Nov 10. Neurol Sci. 2021. PMID: 33170376 Free PMC article.
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.
Vattemi GNA, Rossi D, Galli L, Catallo MR, Pancheri E, Marchetto G, Cisterna B, Malatesta M, Pierantozzi E, Tonin P, Sorrentino V. Vattemi GNA, et al. Among authors: pancheri e. Eur J Neurosci. 2022 Aug;56(3):4214-4223. doi: 10.1111/ejn.15728. Epub 2022 Jun 13. Eur J Neurosci. 2022. PMID: 35666680 Free PMC article.
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
Guglielmi V, Pancheri E, Cannone E, Nigro V, Malatesta M, Vettori A, Giorgetti A, Torella A, Aurino S, Cisterna B, Marchetto G, Tomelleri G, Tonin P, Schiavone M, Vattemi G. Guglielmi V, et al. Among authors: pancheri e. Clin Genet. 2023 Dec;104(6):705-710. doi: 10.1111/cge.14413. Epub 2023 Aug 8. Clin Genet. 2023. PMID: 37553249
19 results