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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 2
2012 3
2013 1
2014 5
2015 11
2016 7
2017 10
2018 8
2019 10
2020 13
2021 17
2022 8
2023 10
2024 2

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90 results

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Page 1
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
David C, Badonyi M, Kechiche R, Insalaco A, Zecca M, De Benedetti F, Orcesi S, Chiapparini L, Comoli P, Federici S, Gattorno M, Ginevrino M, Giorgio E, Matteo V, Moran-Alvarez P, Politano D, Prencipe G, Sirchia F, Volpi S, Masson C, Rice GI, Frémond ML, Lepelley A, Marsh JA, Crow YJ. David C, et al. Among authors: giorgio e. J Clin Immunol. 2024 Feb 7;44(2):60. doi: 10.1007/s10875-024-01660-6. J Clin Immunol. 2024. PMID: 38324161 Free PMC article.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B. Picketts D, et al. Among authors: giorgio e. Res Sq [Preprint]. 2023 Sep 29:rs.3.rs-3317938. doi: 10.21203/rs.3.rs-3317938/v1. Res Sq. 2023. PMID: 37841849 Free PMC article. Preprint.
Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Melo US, Jatzlau J, Prada-Medina CA, Flex E, Hartmann S, Ali S, Schöpflin R, Bernardini L, Ciolfi A, Moeinzadeh MH, Klever MK, Altay A, Vallecillo-García P, Carpentieri G, Delledonne M, Ort MJ, Schwestka M, Ferrero GB, Tartaglia M, Brusco A, Gossen M, Strunk D, Geißler S, Mundlos S, Stricker S, Knaus P, Giorgio E, Spielmann M. Melo US, et al. Among authors: giorgio e. Nat Commun. 2023 Oct 9;14(1):6301. doi: 10.1038/s41467-023-42123-7. Nat Commun. 2023. PMID: 37813867 Free PMC article. No abstract available.
Lamin B1 as a key modulator of the developing and aging brain.
Koufi FD, Neri I, Ramazzotti G, Rusciano I, Mongiorgi S, Marvi MV, Fazio A, Shin M, Kosodo Y, Cani I, Giorgio E, Cortelli P, Manzoli L, Ratti S. Koufi FD, et al. Among authors: giorgio e. Front Cell Neurosci. 2023 Aug 31;17:1263310. doi: 10.3389/fncel.2023.1263310. eCollection 2023. Front Cell Neurosci. 2023. PMID: 37720548 Free PMC article. Review.
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models.
Neri I, Ramazzotti G, Mongiorgi S, Rusciano I, Bugiani M, Conti L, Cousin M, Giorgio E, Padiath QS, Vaula G, Cortelli P, Manzoli L, Ratti S. Neri I, et al. Among authors: giorgio e. Mol Neurobiol. 2023 Nov;60(11):6362-6372. doi: 10.1007/s12035-023-03461-1. Epub 2023 Jul 14. Mol Neurobiol. 2023. PMID: 37450245 Free PMC article. Review.
RNA therapeutics for neurological diseases.
Brentari I, Zadorozhna M, Denti MA, Giorgio E. Brentari I, et al. Among authors: giorgio e. Br Med Bull. 2023 Sep 12;147(1):50-61. doi: 10.1093/bmb/ldad010. Br Med Bull. 2023. PMID: 37210633 Review.
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Melo US, Jatzlau J, Prada-Medina CA, Flex E, Hartmann S, Ali S, Schöpflin R, Bernardini L, Ciolfi A, Moeinzadeh MH, Klever MK, Altay A, Vallecillo-García P, Carpentieri G, Delledonne M, Ort MJ, Schwestka M, Ferrero GB, Tartaglia M, Brusco A, Gossen M, Strunk D, Geißler S, Mundlos S, Stricker S, Knaus P, Giorgio E, Spielmann M. Melo US, et al. Among authors: giorgio e. Nat Commun. 2023 Apr 11;14(1):2034. doi: 10.1038/s41467-023-37585-8. Nat Commun. 2023. PMID: 37041138 Free PMC article.
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
Di Feo MF, Lillback V, Jokela M, McEntagart M, Homfray T, Giorgio E, Casalis Cavalchini GC, Brusco A, Iascone M, Spaccini L, D'Oria P, Savarese M, Udd B. Di Feo MF, et al. Among authors: giorgio e. J Med Genet. 2023 Sep;60(9):866-873. doi: 10.1136/jmg-2022-109018. Epub 2023 Mar 28. J Med Genet. 2023. PMID: 36977548
90 results