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326 results

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Page 1
MicroRNA dysregulation in ataxia telangiectasia.
Cirillo E, Tarallo A, Toriello E, Carissimo A, Giardino G, De Rosa A, Damiano C, Soresina A, Badolato R, Dellepiane RM, Baselli LA, Carrabba M, Fabio G, Bertolini P, Montin D, Conti F, Romano R, Pozzi E, Ferrero G, Roncarati R, Ferracin M, Brusco A, Parenti G, Pignata C. Cirillo E, et al. Among authors: brusco a. Front Immunol. 2024 Aug 19;15:1444130. doi: 10.3389/fimmu.2024.1444130. eCollection 2024. Front Immunol. 2024. PMID: 39224604 Free PMC article.
Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.
Grassini A, Cermelli A, Roveta F, Zotta M, Lesca A, Marcinnò A, Ferrandes F, Piella E, Boschi S, Lombardo C, Brusco A, Gallone S, Rubino E, Bruni A, Rainero I. Grassini A, et al. Among authors: brusco a. Neurol Sci. 2024 Jun;45(6):2877-2880. doi: 10.1007/s10072-024-07453-4. Epub 2024 Mar 18. Neurol Sci. 2024. PMID: 38494459
Correction to: Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG‑PET presentation in spinocerebellar ataxia 17: a case report.
Grassini A, Cermelli A, Roveta F, Zotta M, Lesca A, Marcinnò A, Ferrandes F, Piella E, Boschi S, Lombardo C, Brusco A, Gallone S, Rubino E, Bruni A, Rainero I. Grassini A, et al. Among authors: brusco a. Neurol Sci. 2024 Jun;45(6):2949. doi: 10.1007/s10072-024-07498-5. Neurol Sci. 2024. PMID: 38538926 No abstract available.
A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report.
Roveta F, Marcinnò A, Grassini A, Ferrandes F, Cermelli A, Boschi S, Gallone S, Atzori C, Imperiale D, Dentelli P, Pasini B, Brusco A, Rubino E, Rainero I. Roveta F, et al. Among authors: brusco a. J Alzheimers Dis Rep. 2023 May 31;7(1):469-473. doi: 10.3233/ADR230023. eCollection 2023. J Alzheimers Dis Rep. 2023. PMID: 37313494 Free PMC article.
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.
Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Mendes M, Reuter MS, Anagnostou E, MacDonald JR, Ko SY, Frankland PW, Charlebois J, Elsabbagh M, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV; Undiagnosed Diseases Network; Douine ED, Corona RI, Russell BE, Nelson SF, Graziano C, Schwab M, Simone L, Zara F, Scherer SW. Scala M, et al. Among authors: brusco a. Am J Hum Genet. 2024 Nov 28:S0002-9297(24)00412-9. doi: 10.1016/j.ajhg.2024.11.003. Online ahead of print. Am J Hum Genet. 2024. PMID: 39706195
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.
Pavinato L, Carestiato S, Trajkova S, Sorasio L, Mantovani G, De Sanctis L, Kerkhof J, Haley, Rzasa J, Todd E, Balzo M, Cardaropoli S, Bruselles A, De Rubeis S, Buxbaum JD, Tartaglia M, Sadikovic B, Ferrero GB, Brusco A. Pavinato L, et al. Among authors: brusco a. Clin Genet. 2024 Nov 27. doi: 10.1111/cge.14654. Online ahead of print. Clin Genet. 2024. PMID: 39603792
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
van der Laan L, Silva A, Kleinendorst L, Rooney K, Haghshenas S, Lauffer P, Alanay Y, Bhai P, Brusco A, de Munnik S, de Vries BBA, Vega AD, Engelen M, Herkert JC, Hochstenbach R, Hopman S, Kant SG, Kira R, Kato M, Keren B, Kroes HY, Levy MA, Lock-Hock N, Maas SM, Mancini GMS, Marcelis C, Matsumoto N, Mizuguchi T, Mussa A, Mignot C, Närhi A, Nordgren A, Pfundt R, Polstra AM, Trajkova S, van Bever Y, José van den Boogaard M, van der Smagt JJ, Barakat TS, Alders M, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: brusco a. HGG Adv. 2024 Nov 4;6(1):100380. doi: 10.1016/j.xhgg.2024.100380. Online ahead of print. HGG Adv. 2024. PMID: 39501558 Free PMC article.
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
van der Sluijs PJ, Moutton S, Dingemans AJM, Weis D, Levy MA, Boycott KM, Arberas C, Baldassarri M, Beneteau C, Brusco A, Coutton C, Dabir T, Dentici ML, Devriendt K, Faivre L, van Haelst MM, Jizi K, Kempers MJ, Kerkhof J, Kharbanda M, Lachlan K, Marle N, McConkey H, Mencarelli MA, Mowat D, Niceta M, Nicolas C, Novelli A, Orlando V, Pichon O, Rankin J, Relator R, Ropers FG, Rosenfeld JA, Sachdev R, Sandaradura SA, Shukarova-Angelovska E, Steenbeek D, Tartaglia M, Tedder MA, Trajkova S, Winer N, Woods J, de Vries BBA, Sadikovic B, Alders M, Santen GWE. van der Sluijs PJ, et al. Among authors: brusco a. Genet Med. 2024 Sep 28;27(1):101283. doi: 10.1016/j.gim.2024.101283. Online ahead of print. Genet Med. 2024. PMID: 39355979 Free article.
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Saettini F, Guerra F, Mauri M, Salter CG, Adam MP, Adams D, Baple EL, Barredo E, Bhatia S, Borkhardt A, Brusco A, Bugarin C, Chinello C, Crosby AH, D'Souza P, Denti V, Fazio G, Giuliani S, Kuehn HS, Amel H, Elmi A, Lo B, Malighetti F, Mandrile G, Martín-Nalda A, Mefford HC, Moratto D, Emam Mousavi F, Nelson Z, Gutiérrez-Solana LG, Macnamara E, Michaud V, O'Leary M, Pagani L, Pavinato L, Santamaria PV, Planas-Serra L, Quadri M, Raspall-Chaure M, Rebellato S, Rosenzweig SD, Roubertie A, Holzinger D, Deal C, Vockley CW, Savino AM, L Stoddard J, Uhlig HH, Pujol A, Magni F, Paglia G, Cazzaniga G, Piazza R, Barberis M, Biondi A. Saettini F, et al. Among authors: brusco a. J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. J Clin Immunol. 2024. PMID: 39312004
326 results