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Page 1
The role of clinical and neuroimaging features in the diagnosis of CADASIL.
Bersano A, Bedini G, Markus HS, Vitali P, Colli-Tibaldi E, Taroni F, Gellera C, Baratta S, Mosca L, Carrera P, Ferrari M, Cereda C, Grieco G, Lanfranconi S, Mazucchelli F, Zarcone D, De Lodovici ML, Bono G, Boncoraglio GB, Parati EA, Calloni MV, Perrone P, Bordo BM, Motto C, Agostoni E, Pezzini A, Padovani A, Micieli G, Cavallini A, Molini G, Sasanelli F, Sessa M, Comi G, Checcarelli N, Carmerlingo M, Corato M, Marcheselli S, Fusi L, Grampa G, Uccellini D, Beretta S, Ferrarese C, Incorvaia B, Tadeo CS, Adobbati L, Silani V, Faragò G, Trobia N, Grond-Ginsbach C, Candelise L; Lombardia GENS-group. Bersano A, et al. Among authors: carrera p. J Neurol. 2018 Dec;265(12):2934-2943. doi: 10.1007/s00415-018-9072-8. Epub 2018 Oct 11. J Neurol. 2018. PMID: 30311053
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.
Saez-Atienzar S, Souza CDS, Chia R, Beal SN, Lorenzini I, Huang R, Levy J, Burciu C, Ding J, Gibbs JR, Jones A, Dewan R, Pensato V, Peverelli S, Corrado L, van Vugt JJFA, van Rheenen W, Tunca C, Bayraktar E, Xia M; International ALS Genomics Consortium; ITALSGEN Consortium; SLAGEN Consortium; Project MinE ALS Sequencing Consortium; Iacoangeli A, Shatunov A, Tiloca C, Ticozzi N, Verde F, Mazzini L, Kenna K, Al Khleifat A, Opie-Martin S, Raggi F, Filosto M, Piccinelli SC, Padovani A, Gagliardi S, Inghilleri M, Ferlini A, Vasta R, Calvo A, Moglia C, Canosa A, Manera U, Grassano M, Mandrioli J, Mora G, Lunetta C, Tanel R, Trojsi F, Cardinali P, Gallone S, Brunetti M, Galimberti D, Serpente M, Fenoglio C, Scarpini E, Comi GP, Corti S, Del Bo R, Ceroni M, Pinter GL, Taroni F, Bella ED, Bersano E, Curtis CJ, Lee SH, Chung R, Patel H, Morrison KE, Cooper-Knock J, Shaw PJ, Breen G, Dobson RJB, Dalgard CL; American Genome Center; Scholz SW, Al-Chalabi A, van den Berg LH, McLaughlin R, Hardiman O, Cereda C, Sorarù G, D'Alfonso S, Chandran S, Pal S, Ratti A, Gellera C, Johnson K, Doucet-O'Hare T, Pasternack N, Wang T, Nath A, Siciliano G, Silani V, Başak AN, Veldink JH, Camu W, Glass JD, Land… See abstract for full author list ➔ Saez-Atienzar S, et al. Cell Genom. 2024 Nov 13;4(11):100679. doi: 10.1016/j.xgen.2024.100679. Epub 2024 Oct 21. Cell Genom. 2024. PMID: 39437787 Free PMC article.
Germline testing and genetic counseling in biliary tract cancer: an operative proposal to improve the state of art.
Rimini M, Presi S, Pipitone GB, Russo Raucci A, Ratti F, Della Corte A, Pedica F, Vanella G, Tonon G, Burgio V, Vitiello F, Rossari F, Amadeo E, Maria Giulia C, Pecciarini L, Arcidiacono PG, Falcinelli F, Cascinu S, De Cobelli F, Aldrighetti L, Patricelli MG, Carrera P, Casadei-Gardini A. Rimini M, et al. Among authors: carrera p. Expert Rev Gastroenterol Hepatol. 2024 Apr-May;18(4-5):141-146. doi: 10.1080/17474124.2024.2337000. Epub 2024 Apr 8. Expert Rev Gastroenterol Hepatol. 2024. PMID: 38584510
Multifocal vitelliform lesions associated with mitochondrial retinopathy.
Battaglia Parodi M, Antropoli A, Bianco L, Arrigo A, Del Fabbro S, Carrera P, Spiga I, Catania A, Lamperti C, Bandello F, Mansour A. Battaglia Parodi M, et al. Among authors: carrera p. Am J Ophthalmol Case Rep. 2024 Oct 2;36:102181. doi: 10.1016/j.ajoc.2024.102181. eCollection 2024 Dec. Am J Ophthalmol Case Rep. 2024. PMID: 39411423 Free PMC article.
Beyond the kidneys: investigating airway involvement in autosomal dominant polycystic kidney disease through nasal nitric oxide profiling : A transversal single-center observational study.
De Rosa LI, Vespa M, Catania M, Kola K, Bucci R, Mancassola G, Carrera P, Manunta P, Vezzoli G, Sciarrone Alibrandi MT. De Rosa LI, et al. Among authors: carrera p. J Nephrol. 2024 Nov;37(8):2413-2415. doi: 10.1007/s40620-024-02116-1. Epub 2024 Oct 22. J Nephrol. 2024. PMID: 39433723 No abstract available.
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome.
Chimienti R, Torchio S, Siracusano G, Zamarian V, Monaco L, Lombardo MT, Pellegrini S, Manenti F, Cuozzo F, Rossi G, Carrera P, Sordi V, Broccoli V, Bonfanti R, Casari G, Frontino G, Piemonti L. Chimienti R, et al. Among authors: carrera p. Diabetologia. 2025 Jan;68(1):128-151. doi: 10.1007/s00125-024-06307-0. Epub 2024 Nov 9. Diabetologia. 2025. PMID: 39520565 Free PMC article.
Germline pathogenic variants of cancer predisposition genes in a multicentre Italian cohort of pancreatic cancer patients.
Orsi G, Carconi C, Ghiorzo P, Carrera P, Pastorino L, Presi S, Chiaravalli M, Barbieri E, Giordano G, Sciallero S, Puccini A, Salvatore L, Cortesi L, Macchini M, Natalicchio MI, Allavena E, Pirrone C, Archibugi L, Dalmasso B, Bruno W, Tortora G, Landriscina M, Capurso G, Cascinu S, Falconi M, Reni M. Orsi G, et al. Among authors: carrera p. Eur J Cancer. 2024 Sep;208:114226. doi: 10.1016/j.ejca.2024.114226. Epub 2024 Jul 16. Eur J Cancer. 2024. PMID: 39029294
Severe West Nile virus and Sars-CoV-2 infections in a patient with thymoma and anti-type I IFN antibodies.
Barzaghi F, Visconti C, Pipitone GB, Bondesan S, Molli G, Giannelli S, Sartirana C, Lampasona V, Bazzigaluppi E, Brigatti C, Gervais A, Bastard P, Din CT, Molinari C, Piemonti L, Casanova JL, Carrera P, Casari G, Aiuti A. Barzaghi F, et al. Among authors: carrera p. J Infect Dis. 2024 Jul 8:jiae321. doi: 10.1093/infdis/jiae321. Online ahead of print. J Infect Dis. 2024. PMID: 38976510
303 results