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Contactin-1 links autoimmune neuropathy and membranous glomerulonephritis.
Fehmi J, Davies AJ, Antonelou M, Keddie S, Pikkupeura S, Querol L, Delmont E, Cortese A, Franciotta D, Persson S, Barratt J, Pepper R, Farinha F, Rahman A, Canetti D, Gilbertson JA, Rendell NB, Radunovic A, Minton T, Fuller G, Murphy SM, Carr AS, Reilly MR, Eftimov F, Wieske L, Teunissen CE, Roberts ISD, Ashman N, Salama AD, Rinaldi S. Fehmi J, et al. Among authors: cortese a. PLoS One. 2023 Mar 9;18(3):e0281156. doi: 10.1371/journal.pone.0281156. eCollection 2023. PLoS One. 2023. PMID: 36893151 Free PMC article.
Progressive post infectious neurological syndromes with a poor outcome: Long term follow-up and neurofilament light chain quantification.
Businaro P, Currò R, Vegezzi E, Diamanti L, Bini P, Cosentino G, Alfonsi E, Farina LM, Colombo E, Tavazzi E, Cortese A, Scaranzin S, Gastaldi M, Marchioni E. Businaro P, et al. Among authors: cortese a. Mult Scler Relat Disord. 2023 Aug;76:104781. doi: 10.1016/j.msard.2023.104781. Epub 2023 May 28. Mult Scler Relat Disord. 2023. PMID: 37295322
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Efthymiou S, Lemmers RJLF, Vishnu VY, Dominik N, Perrone B, Facchini S, Vegezzi E, Ravaglia S, Wilson L, van der Vliet PJ, Mishra R, Reyaz A, Ahmad T, Bhatia R, Polke JM, Srivastava MP, Cortese A, Houlden H, van der Maarel SM, Hanna MG, Bugiardini E. Efthymiou S, et al. Among authors: cortese a. Biomolecules. 2023 Oct 24;13(11):1567. doi: 10.3390/biom13111567. Biomolecules. 2023. PMID: 38002249 Free PMC article.
POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS.
Ibañez K, Jadhav B, Facchini S, Garg P, Zanovello M, Martin-Trujillo A, Gies SJ, Deforie VG, Gagliardi D, Hensman D, Moutsianas L, Shoai M; Genomics England Research Consortium; EUROSCA network; Caulfield MJ, Cortese A, Escott-Price V, Hardy J, Houlden H, Sharp AJ, Tucci A. Ibañez K, et al. Among authors: cortese a. medRxiv [Preprint]. 2023 Jul 6:2023.07.03.23292162. doi: 10.1101/2023.07.03.23292162. medRxiv. 2023. PMID: 37461547 Free PMC article. Preprint.
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.
Chronic inflammatory demyelinating polyradiculoneuropathy: can a diagnosis be made in patients not fulfilling electrodiagnostic criteria?
Liberatore G, Manganelli F, Doneddu PE, Cocito D, Fazio R, Briani C, Filosto M, Benedetti L, Mazzeo A, Antonini G, Cosentino G, Jann S, Cortese A, Marfia GA, Clerici AM, Siciliano G, Carpo M, Luigetti M, Lauria G, Rosso T, Cavaletti G, Santoro L, Peci E, Tronci S, Ruiz M, Cotti Piccinelli S, Schenone A, Leonardi L, Toscano A, Mataluni G, Spina E, Gentile L, Nobile-Orazio E; Italian CIDP Database Study Group. Liberatore G, et al. Among authors: cortese a. Eur J Neurol. 2021 Feb;28(2):620-629. doi: 10.1111/ene.14545. Epub 2020 Oct 15. Eur J Neurol. 2021. PMID: 32959475 Free article.
345 results