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Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.
Rubegni A, Malandrini A, Dosi C, Astrea G, Baldacci J, Battisti C, Bertocci G, Donati MA, Dotti MT, Federico A, Giannini F, Grosso S, Guerrini R, Lenzi S, Maioli MA, Melani F, Mercuri E, Sacchini M, Salvatore S, Siciliano G, Tolomeo D, Tonin P, Volpi N, Santorelli FM, Cassandrini D. Rubegni A, et al. Among authors: tolomeo d. Neurol Genet. 2019 Aug 16;5(5):e352. doi: 10.1212/NXG.0000000000000352. eCollection 2019 Oct. Neurol Genet. 2019. PMID: 31517061 Free PMC article.
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
Tolomeo D, Orsucci D, Nesti C, Baldacci J, Battini R, Bruno C, Bruno G, Cassandrini D, Doccini S, Donati MA, Ferrari A, Fiori S, Fiorillo C, Guerrini R, Mari F, Montomoli M, Pochiero F, Procopio E, Ruggiero L, Sampaolo S, Sicca F, Ticci C, Rubegni A, Santorelli FM. Tolomeo D, et al. J Clin Med. 2021 Jul 22;10(15):3222. doi: 10.3390/jcm10153222. J Clin Med. 2021. PMID: 34362006 Free PMC article.
The features of the m.10197G>A mtDNA mutation.
Severino M, Nesti C, Rubegni A, Tolomeo D, Santorelli FM. Severino M, et al. Among authors: tolomeo d. J Neurol Sci. 2019 May 15;400:184-185. doi: 10.1016/j.jns.2019.04.005. Epub 2019 Apr 4. J Neurol Sci. 2019. PMID: 30978516 No abstract available.
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: tolomeo d. J Clin Med. 2021 May 12;10(10):2063. doi: 10.3390/jcm10102063. J Clin Med. 2021. PMID: 34065803 Free PMC article.
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission.
Tolomeo D, Rubegni A, Nesti C, Barghigiani M, Battini R, D'Amore F, Doccini S, Donati MA, Galatolo D, Giglio S, Guarducci S, Pantaleo M, Pasquariello R, Procopio E, Pochiero F, Tessa A, Santorelli FMM. Tolomeo D, et al. Among authors: d amore f. J Med Genet. 2021 Aug;58(8):543-546. doi: 10.1136/jmedgenet-2020-107644. Epub 2021 Jun 16. J Med Genet. 2021. PMID: 34135091 No abstract available.
Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability.
Tolomeo D, Rubegni A, Severino M, Pochiero F, Bruno C, Cassandrini D, Madeo A, Doccini S, Pedemonte M, Rossi A, D'Amore F, Donati MA, Di Rocco M, Santorelli FM, Nesti C. Tolomeo D, et al. Among authors: d amore f. J Neurol Sci. 2019 Apr 15;399:69-75. doi: 10.1016/j.jns.2019.02.010. Epub 2019 Feb 6. J Neurol Sci. 2019. PMID: 30776730
Aggressive systemic mastocytosis with the co-occurrence of PRKG2::PDGFRB, KAT6A::NCOA2, and RXRA::NOTCH1 fusion transcripts and a heterozygous RUNX1 frameshift mutation.
Poscente M, Tolomeo D, Arshadi A, Agostini A, L'Abbate A, Solimando AG, Palumbo O, Carella M, Palumbo P, González T, Hernández-Rivas JM, Bassi L, Isidori R, Dell'Aquila M, Trapè G, Latagliata R, Pessina G, Natoni F, Storlazzi CT. Poscente M, et al. Among authors: tolomeo d. Cancer Genet. 2024 Mar 7;284-285:5-11. doi: 10.1016/j.cancergen.2024.03.002. Online ahead of print. Cancer Genet. 2024. PMID: 38471404
52 results