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Year Number of Results
2017 1
2018 1
2019 2
2020 6
2021 2
2022 1
2023 1
2024 0

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13 results

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Page 1
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.
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
Ticci C, Sicca F, Ardissone A, Bertini E, Carelli V, Diodato D, Di Vito L, Filosto M, La Morgia C, Lamperti C, Martinelli D, Moroni I, Musumeci O, Orsucci D, Pancheri E, Peverelli L, Primiano G, Rubegni A, Servidei S, Siciliano G, Simoncini C, Tonin P, Toscano A, Mancuso M, Santorelli FM. Ticci C, et al. Among authors: pancheri e. Neurogenetics. 2020 Apr;21(2):87-96. doi: 10.1007/s10048-019-00601-5. Epub 2020 Jan 3. Neurogenetics. 2020. PMID: 31900734
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
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
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.
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
Ticci C, Orsucci D, Ardissone A, Bello L, Bertini E, Bonato I, Bruno C, Carelli V, Diodato D, Doccini S, Donati MA, Dosi C, Filosto M, Fiorillo C, La Morgia C, Lamperti C, Marchet S, Martinelli D, Minetti C, Moggio M, Mongini TE, Montano V, Moroni I, Musumeci O, Pancheri E, Pegoraro E, Primiano G, Procopio E, Rubegni A, Scalise R, Sciacco M, Servidei S, Siciliano G, Simoncini C, Tolomeo D, Tonin P, Toscano A, Tubili F, Mancuso M, Battini R, Santorelli FM. Ticci C, et al. Among authors: pancheri e. J Clin Med. 2021 May 12;10(10):2063. doi: 10.3390/jcm10102063. J Clin Med. 2021. PMID: 34065803 Free PMC article.
13 results