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327 results

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The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure.
Sansone VA, Pirola A, Lizio A, Greco LC, Coratti G, Casiraghi J, Pane M, Pera MC, Italiano C, Messina S, Pozzi S, Sframeli M, D'Amico A, Bertini E, Bruno C, Mauro L, Salmin F, Stancanelli C, Pedemonte M, Albamonte E, Zizzi C, Heatwole C, Mercuri E; ISMAC group. Sansone VA, et al. Among authors: pozzi s. Neuromuscul Disord. 2021 May;31(5):409-418. doi: 10.1016/j.nmd.2021.02.006. Epub 2021 Feb 9. Neuromuscul Disord. 2021. PMID: 33773884
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach.
Trucco F, Salmin F, Lizio A, Coratti G, Albamonte E, Frisoni MC, Mauro L, Carraro E, Palazzo G, Lops J, Cattaneo C, Pozzi S, Casiraghi J, Di Bari A, Berti B, Stanca G, Ricci M, Pane M, Heatwole C, Dilek N, Mercuri E, Sansone VA. Trucco F, et al. Among authors: pozzi s. Dysphagia. 2023 Dec;38(6):1568-1580. doi: 10.1007/s00455-023-10584-z. Epub 2023 Jun 8. Dysphagia. 2023. PMID: 37289231 Free PMC article.
Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy.
Trucco F, Lizio A, Roma E, di Bari A, Salmin F, Albamonte E, Casiraghi J, Pozzi S, Becchiati S, Antonaci L, Salvalaggio A, Catteruccia M, Tosi M, Marinella G, Danti FR, Bruschi F, Veneruso M, Parravicini S, Fiorillo C, Berardinelli A, Pini A, Moroni I, Astrea G, Battini R, D'Amico A, Ricci F, Pane M, Mercuri EM, Johnson NE, Sansone VA. Trucco F, et al. Among authors: pozzi s. J Clin Med. 2024 Sep 14;13(18):5459. doi: 10.3390/jcm13185459. J Clin Med. 2024. PMID: 39336946 Free PMC article.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van … See abstract for full author list ➔ Johnson JO, et al. Among authors: pozzi s. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
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.
Marriage and parenthood among childhood cancer survivors: a report from the Italian AIEOP Off-Therapy Registry.
Pivetta E, Maule MM, Pisani P, Zugna D, Haupt R, Jankovic M, Aricò M, Casale F, Clerico A, Cordero di Montezemolo L, Kiren V, Locatelli F, Palumbo G, Pession A, Pillon M, Santoro N, Terenziani M, Valsecchi MG, Dama E, Magnani C, Merletti F, Pastore G; Italian Association of Pediatric Hematology and Oncology (AIEOP) Group. Pivetta E, et al. Haematologica. 2011 May;96(5):744-51. doi: 10.3324/haematol.2010.036129. Epub 2011 Jan 12. Haematologica. 2011. PMID: 21228031 Free PMC article.
327 results