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Page 1
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, Laccone F, Iglseder S, Marte S, Baumgartner M, Eisenkölbl A, Liechtenstein C, Rudnik S, Quasthoff S, Grinzinger S, Spenger J, Wortmann SB, Löscher WN, Zimprich F, Kellersmann A, Rappold M, Bernert G, Freilinger M, Cetin H. Krenn M, et al. Among authors: laccone f. J Neurol. 2023 Feb;270(2):909-916. doi: 10.1007/s00415-022-11440-0. Epub 2022 Oct 29. J Neurol. 2023. PMID: 36308527 Free PMC article.
Performance of clinical risk scores and prediction models to identify pathogenic germline variants in patients with advanced prostate cancer.
Rebhan K, Stelzer PD, Pradere B, Rajwa P, Kramer G, Hofmann B, Resch I, Yurdakul O, Laccone FA, Bujalkova MG, Smogavec M, Tan YY, Ristl R, Shariat SF, Egger G, Hassler MR. Rebhan K, et al. Among authors: laccone fa. World J Urol. 2023 Aug;41(8):2091-2097. doi: 10.1007/s00345-023-04535-4. Epub 2023 Aug 1. World J Urol. 2023. PMID: 37528288 Free PMC article.
Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
Siegert S, Grisold A, Pal-Handl K, Lilja S, Kepa S, Silvaieh S, Laccone F, Wiest G, Pogledic I, Schmook MT, Boltshauser E, Schmidt WM, Krenn M. Siegert S, et al. Among authors: laccone f. Pediatr Neurol. 2024 Nov;160:38-44. doi: 10.1016/j.pediatrneurol.2024.07.015. Epub 2024 Jul 30. Pediatr Neurol. 2024. PMID: 39181021 Free article.
Mycobacterium avium Complex Infections: Detailed Phenotypic and Functional Immunological Work-Up Is Required despite Genetic Analyses.
Kratzer B, Grabmeier-Pfistershammer K, Trapin D, Körmöczi U, Rottal A, Feichter M, Waidhofer-Söllner P, Smogavec M, Laccone F, Hauser M, Winkler S, Pickl WF, Lechner AM. Kratzer B, et al. Among authors: laccone f. Int Arch Allergy Immunol. 2023;184(9):914-931. doi: 10.1159/000530844. Epub 2023 Jun 6. Int Arch Allergy Immunol. 2023. PMID: 37279717 Free article.
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.
Tallgren A, Kager L, O'Grady G, Tuominen H, Körkkö J, Kuismin O, Feucht M, Wilson C, Behunova J, England E, Kurki MI, Palotie A, Hallman M, Kaarteenaho R, Laccone F, Boztug K, Hinttala R, Uusimaa J. Tallgren A, et al. Among authors: laccone f. Front Neurosci. 2023 Apr 27;17:1123327. doi: 10.3389/fnins.2023.1123327. eCollection 2023. Front Neurosci. 2023. PMID: 37179546 Free PMC article.
Epigenomic and phenotypic characterization of DEGCAGS syndrome.
Karimi K, Weis D, Aukrust I, Hsieh TC, Horackova M, Paulsen J, Mendoza Londono R, Dupuis L, Dickson M, Lesman H, Lau T, Murphy D, Hama Salih K, Al-Musawi BMS, Al-Obaidi RGY, Rydzanicz M, Biela M, Santos MS, Aldeeri A, Gazda HT, Pais L, Shril S, Døllner H, Bartakke S, Laccone F, Soltysova A, Kitzler T, Soliman NA, Relator R, Levy MA, Kerkhof J, Rzasa J, Houlden H, Pilshofer GV, Jobst-Schwan T, Hildebrandt F, Sousa SB, Maroofian R, Yu TW, Krawitz P, Sadikovic B, Douzgou Houge S. Karimi K, et al. Among authors: laccone f. Eur J Hum Genet. 2024 Oct 19. doi: 10.1038/s41431-024-01702-y. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39424669
140 results