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Year Number of Results
2012 2
2013 2
2014 2
2015 2
2016 1
2017 3
2018 1
2019 2
2020 2
2021 1
2022 4
2023 2
2024 2

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Page 1
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. Johannesen KM, et al. Among authors: mancardi m. Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10. Epilepsia. 2019. PMID: 30968951
Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study.
Gastaldi M, Foiadelli T, Greco G, Scaranzin S, Rigoni E, Masciocchi S, Ferrari S, Mancinelli C, Brambilla L, Mancardi M, Giacomini T, Ferraro D, Della Corte M, Gallo A, Di Filippo M, Benedetti L, Novi G, Versino M, Banfi P, Iorio R, Moiola L, Turco E, Sartori S, Nosadini M, Ruggieri M, Savasta S, Colombo E, Ballante E, Jarius S, Mariotto S, Franciotta D; NINA study group. Gastaldi M, et al. Among authors: mancardi m. J Neurol Neurosurg Psychiatry. 2023 Mar;94(3):201-210. doi: 10.1136/jnnp-2022-330237. Epub 2022 Dec 2. J Neurol Neurosurg Psychiatry. 2023. PMID: 36460438
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM. Fetta A, et al. Among authors: mancardi m. Orphanet J Rare Dis. 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5. Orphanet J Rare Dis. 2024. PMID: 38459574 Free PMC article. Review.
Effectiveness of Perampanel as the Only Add-on: Retrospective, Multicenter, Observational Real Life Study on epilepsy patients.
Gasparini S, Ferlazzo E, Neri S, Cianci V, Iudice A, Bisulli F, Bonanni P, Caggia E, D'Aniello A, Di Bonaventura C, DiFrancesco JC, Domina E, Dono F, Gambardella A, Marini C, Marrelli A, Matricardi S, Morano A, Paladin F, Renna R, Striano P, Pascarella A, Ascoli M, Aguglia U; PEROC Study Group. Gasparini S, et al. Epilepsia Open. 2022 Sep 8;7(4):687-96. doi: 10.1002/epi4.12649. Online ahead of print. Epilepsia Open. 2022. PMID: 36082380 Free PMC article.
Gluten Psychosis: Confirmation of a New Clinical Entity.
Lionetti E, Leonardi S, Franzonello C, Mancardi M, Ruggieri M, Catassi C. Lionetti E, et al. Among authors: mancardi m. Nutrients. 2015 Jul 8;7(7):5532-9. doi: 10.3390/nu7075235. Nutrients. 2015. PMID: 26184290 Free PMC article.
Acute hyperkinetic movement disorders in Italian paediatric emergency departments.
Raucci U, Parisi P, Vanacore N, Garone G, Bondone C, Palmieri A, Calistri L, Suppiej A, Falsaperla R, Capuano A, Ferro V, Urbino AF, Tallone R, Montemaggi A, Sartori S, Pavone P, Mancardi M, Melani F, Ilvento L, Pelizza MF, Reale A. Raucci U, et al. Among authors: mancardi m. Arch Dis Child. 2018 Aug;103(8):790-794. doi: 10.1136/archdischild-2017-314464. Epub 2018 Mar 8. Arch Dis Child. 2018. PMID: 29519947
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
Tassano E, Uccella S, Ronchetto P, Martinheira Da Silva JS, Viaggi S, Mancardi M, Ramenghi L, Murri A, Biondi M, Gimelli G, Morerio C, Malacarne M, Coviello D. Tassano E, et al. Among authors: mancardi m. Cytogenet Genome Res. 2022;162(3):132-139. doi: 10.1159/000525181. Epub 2022 Jul 27. Cytogenet Genome Res. 2022. PMID: 35896065
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium. Møller RS, et al. Epilepsia. 2013 Feb;54(2):256-64. doi: 10.1111/epi.12078. Epub 2013 Jan 7. Epilepsia. 2013. PMID: 23294455 Free article.
Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies.
Tortora D, Cataldi M, Severino M, Consales A, Pacetti M, Parodi C, Sertorio F, Ramaglia A, Cognolato E, Nobile G, Mancardi M, Prato G, Siri L, Giacomini T, Striano P, Arnaldi D, Piatelli G, Rossi A, Nobili L. Tortora D, et al. Among authors: mancardi m. Diagnostics (Basel). 2022 Mar 25;12(4):811. doi: 10.3390/diagnostics12040811. Diagnostics (Basel). 2022. PMID: 35453858 Free PMC article.
22 results