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Year Number of Results
2006 1
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2009 1
2011 1
2012 2
2013 6
2014 9
2015 7
2016 6
2017 3
2018 4
2019 9
2020 10
2021 9
2022 16
2023 15
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94 results

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Page 1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: matricardi s. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: matricardi s. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
Withdrawal seizures: possible risk factors.
Matricardi S, Operto FF, Farello G, Coppola G, Verrotti A. Matricardi S, et al. Expert Rev Neurother. 2020 Jul;20(7):667-672. doi: 10.1080/14737175.2020.1780917. Epub 2020 Jun 23. Expert Rev Neurother. 2020. PMID: 32515638 Review.
Epileptic phenotypes in autoimmune encephalitis: from acute symptomatic seizures to autoimmune-associated epilepsy.
Matricardi S, Casciato S, Bozzetti S, Mariotto S, Stabile A, Freri E, Deleo F, Sartori S, Nosadini M, Pappalardo I, Meletti S, Giovannini G, Zucchi E, Di Bonaventura C, Di Gennaro G, Ferrari S, Zuliani L, Zoccarato M, Vogrig A, Lattanzi S, Michelucci R, Gambardella A, Ferlazzo E, Fusco L, Granata T, Villani F; Immune Epilepsies Study Group of the Italian League Against Epilepsy. Matricardi S, et al. J Neurol Neurosurg Psychiatry. 2022 Jul 25:jnnp-2022-329195. doi: 10.1136/jnnp-2022-329195. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35879055
CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.
Dell'Isola GB, Fattorusso A, Pisani F, Mastrangelo M, Cordelli DM, Pavone P, Parisi P, Ferretti A, Operto FF, Elia M, Carotenuto M, Pruna D, Matricardi S, Spezia E, Spalice A, Scorrano G, Savasta S, Prontera P, Di Cara G, Fruttini D, Salpietro V, Striano P, Verrotti A. Dell'Isola GB, et al. Among authors: matricardi s. J Neurol. 2024 Aug;271(8):5368-5377. doi: 10.1007/s00415-024-12421-1. Epub 2024 Jun 14. J Neurol. 2024. PMID: 38874638 Free PMC article.
94 results