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161 results

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Page 1
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
Rosti G, Boeri S, Divizia MT, Pisciotta L, Mancardi MM, Lerone M, Cerminara M, Servetti M, Spirito G, Vozzi D, Fontana M, Gustincich S, Nobili L, Zara F, Puliti A. Rosti G, et al. Among authors: pisciotta l. Mol Syndromol. 2023 Oct;14(5):433-438. doi: 10.1159/000529408. Epub 2023 May 9. Mol Syndromol. 2023. PMID: 37915395 Free PMC article.
Case report: A single novel calpain 3 gene variant associated with mild myopathy.
Massucco S, Fossa P, Fiorillo C, Faedo E, Gemelli C, Barresi R, Ripolone M, Patrone S, Gaudio A, Mandich P, Gotta F, Baratto S, Traverso M, Pisciotta L, Zaottini F, Camera M, Scarsi E, Grandis M. Massucco S, et al. Among authors: pisciotta l. Front Genet. 2024 Dec 5;15:1437859. doi: 10.3389/fgene.2024.1437859. eCollection 2024. Front Genet. 2024. PMID: 39703226 Free PMC article.
[How to overcome barriers to implementation of prevention and management strategies of atherosclerotic cardiovascular disease through lipid-lowering therapy].
Arca M, Averna M, Borghi C, Lettino M, Perrone Filardi P, Alberti A, Bilato C, Calabrò P, Carubbi F, Ciccone MM, Cipollone F, Citroni N, De Luca L, Giaccari A, Iannuzzo G, Maloberti A, Marcucci R, Pignatelli Spinazzola P, Pirro M, Pisciotta L, Sarullo F, Sciacqua A, Suppressa P, Varbella F, Werba JP, Zambon A. Arca M, et al. Among authors: pisciotta l. G Ital Cardiol (Rome). 2023 Oct;24(10):770-780. doi: 10.1714/4100.40977. G Ital Cardiol (Rome). 2023. PMID: 37767829 Review. Italian.
Predictive factors of health related quality of life in children and adolescents with celiac disease: An Italian multicenter study on behalf of the SIGENP.
Crocco M, Malerba F, Calvi A, Zampatti N, Valitutti F, Pisciotta L, Borgarelli C, Montuori M, Oliva S, Catassi G, Borghini R, Trovato CM, Ferretti F, Felici E, Roviglione B, Monzani A, Terzi C, Caldonazzi F, Bortolotti V, Cavalli E, Cozzali R, Illiceto MT, Citrano M, Graziano F, Romano C, Laganà F, Auricchio R, Ferro J, Gandullia P, Proietti S, Bonassi S. Crocco M, et al. Among authors: pisciotta l. Dig Liver Dis. 2025 Jan 11:S1590-8658(24)01145-9. doi: 10.1016/j.dld.2024.12.020. Online ahead of print. Dig Liver Dis. 2025. PMID: 39800588
Sex-related differences in response to lomitapide in HoFH: A subanalysis of the Pan-European Lomitapide retrospective observational study.
Pavanello C, Suppressa P, Castiglione S, Di Costanzo A, Tramontano D, Rizzi L, Steward K, Calabresi L, Arca M, Roeters van Lennep J, D'Erasmo L; Italian and European Working Group on Lomitapide in HoFH. Pavanello C, et al. Atherosclerosis. 2024 Dec 13;401:119089. doi: 10.1016/j.atherosclerosis.2024.119089. Online ahead of print. Atherosclerosis. 2024. PMID: 39708636
Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study.
European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (EAS FHSC). European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (EAS FHSC). Lancet Diabetes Endocrinol. 2024 Nov;12(11):811-823. doi: 10.1016/S2213-8587(24)00221-3. Epub 2024 Oct 4. Lancet Diabetes Endocrinol. 2024. PMID: 39374602 Free article.
Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.
Srour MK, Bidzimou MK, Muralidharan P, Mitchell SM, Moya-Mendez ME, Parker LE, Valenzuela GR, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Terzi MAP, Zawadzka M, Mazurkiewicz-Bełdzińska M, Fons C, Anticona J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Vavassori R, Mikati MA, Landstrom AP. Srour MK, et al. Among authors: pisciotta l. medRxiv [Preprint]. 2024 Oct 31:2024.08.31.24312446. doi: 10.1101/2024.08.31.24312446. medRxiv. 2024. PMID: 39252916 Free PMC article. Preprint.
161 results