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Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Mantovani V, Bin S, Graziano C, Capelli I, Minardi R, Aiello V, Ambrosini E, Cristalli CP, Mattiaccio A, Pariali M, De Fanti S, Faletra F, Grosso E, Cantone R, Mancini E, Mencarelli F, Pasini A, Wischmeijer A, Sciascia N, Seri M, La Manna G. Mantovani V, et al. Among authors: minardi r. Front Genet. 2020 May 7;11:464. doi: 10.3389/fgene.2020.00464. eCollection 2020. Front Genet. 2020. PMID: 32457805 Free PMC article.
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.
Pippucci T, Licchetta L, Baldassari S, Marconi C, De Luise M, Myers C, Nardi E, Provini F, Cameli C, Minardi R, Bacchelli E, Giordano L, Crichiutti G, d'Orsi G, Seri M, Gasparre G, Mefford HC, Tinuper P, Bisulli F; Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Commission. Pippucci T, et al. Among authors: minardi r. Ann Clin Transl Neurol. 2019 Feb 25;6(3):475-485. doi: 10.1002/acn3.722. eCollection 2019 Mar. Ann Clin Transl Neurol. 2019. PMID: 30911571 Free PMC article.
Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients.
Licchetta L, Pippucci T, Baldassari S, Minardi R, Provini F, Mostacci B, Plazzi G, Tinuper P, Bisulli F; Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Study Group on SHE. Licchetta L, et al. Among authors: minardi r. Seizure. 2020 Jan;74:60-64. doi: 10.1016/j.seizure.2019.11.009. Epub 2019 Nov 23. Seizure. 2020. PMID: 31835056 Free article.
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.
Dimartino P, Mariani V, Marconi C, Minardi R, Bramerio M, Licchetta L, Menghi V, Morandi L, Magini P, Mongelli P, Cardinale F, Seri M, Tinuper P, Tassi L, Pippucci T, Bisulli F. Dimartino P, et al. Among authors: minardi r. Mol Diagn Ther. 2020 Oct;24(5):571-577. doi: 10.1007/s40291-020-00488-1. Mol Diagn Ther. 2020. PMID: 32772316
Epilepsy with auditory features: Contribution of known genes in 112 patients.
Bisulli F, Rinaldi C, Pippucci T, Minardi R, Baldassari S, Zenesini C, Mostacci B, Fanella M, Avoni P, Menghi V, Caporali L, Muccioli L, Tinuper P, Licchetta L. Bisulli F, et al. Among authors: minardi r. Seizure. 2021 Feb;85:115-118. doi: 10.1016/j.seizure.2020.12.015. Epub 2020 Dec 31. Seizure. 2021. PMID: 33453592 Free article.
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy.
Licchetta L, Ferri L, La Morgia C, Zenesini C, Caporali L, Lucia Valentino M, Minardi R, Fulitano D, Di Vito L, Mostacci B, Alvisi L, Avoni P, Liguori R, Tinuper P, Bisulli F, Carelli V. Licchetta L, et al. Among authors: minardi r. Ann Clin Transl Neurol. 2021 Mar;8(3):704-710. doi: 10.1002/acn3.51259. Epub 2021 Jan 21. Ann Clin Transl Neurol. 2021. PMID: 33476484 Free PMC article.
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Schwarz N, Seiffert S, Pendziwiat M, Rademacher AV, Brünger T, Hedrich UBS, Augustijn PB, Baier H, Bayat A, Bisulli F, Buono RJ, Bruria BZ, Doyle MG, Guerrini R, Heimer G, Iacomino M, Kearney H, Klein KM, Kousiappa I, Kunz WS, Lerche H, Licchetta L, Lohmann E, Minardi R, McDonald M, Montgomery S, Mulahasanovic L, Oegema R, Ortal B, Papacostas SS, Ragona F, Granata T, Reif PS, Rosenow F, Rothschild A, Scudieri P, Striano P, Tinuper P, Tanteles GA, Vetro A, Zahnert F, Goldberg EM, Zara F, Lal D, May P, Muhle H, Helbig I, Weber Y. Schwarz N, et al. Among authors: minardi r. Neurology. 2022 May 17;98(20):e2046-e2059. doi: 10.1212/WNL.0000000000200660. Epub 2022 Mar 21. Neurology. 2022. PMID: 35314505 Free PMC article.
53 results