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Page 1
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Marinella G, Astrea G, Buchignani B, Cassandrini D, Doccini S, Filosto M, Galatolo D, Gallone S, Giannini F, Lopergolo D, Maioli MA, Magri F, Malandrini A, Mandich P, Mari F, Massa R, Mata S, Melani F, Moggio M, Mongini TE, Pasquariello R, Pegoraro E, Ricci F, Ricci G, Rodolico C, Rubegni A, Siciliano G, Sperti M, Ticci C, Tonin P, Santorelli FM, Battini R. Marinella G, et al. Among authors: santorelli fm. Int J Mol Sci. 2022 Nov 23;23(23):14567. doi: 10.3390/ijms232314567. Int J Mol Sci. 2022. PMID: 36498898 Free PMC article.
Converging Role for REEP1/SPG31 in Oxidative Stress.
Naef V, Meschini MC, Tessa A, Morani F, Corsinovi D, Ogi A, Marchese M, Ori M, Santorelli FM, Doccini S. Naef V, et al. Among authors: santorelli fm. Int J Mol Sci. 2023 Feb 9;24(4):3527. doi: 10.3390/ijms24043527. Int J Mol Sci. 2023. PMID: 36834939 Free PMC article.
Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies.
Lioncino M, Monda E, Caiazza M, Simonelli V, Nesti C, Mauriello A, Budillon A, Di Santo A, Bruno G, Varone A, Nigro V, Santorelli FM, Pacileo G, Russo MG, Frisso G, Sampaolo S, Limongelli G. Lioncino M, et al. Among authors: santorelli fm. Circ Genom Precis Med. 2023 Aug;16(4):412-414. doi: 10.1161/CIRCGEN.123.004122. Epub 2023 May 17. Circ Genom Precis Med. 2023. PMID: 37194584 No abstract available.
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.
Monda E, Lioncino M, Caiazza M, Simonelli V, Nesti C, Rubino M, Perna A, Mauriello A, Budillon A, Pota V, Bruno G, Varone A, Nigro V, Santorelli FM, Pacileo G, Russo MG, Frisso G, Sampaolo S, Limongelli G. Monda E, et al. Among authors: santorelli fm. Int J Mol Sci. 2023 May 22;24(10):9108. doi: 10.3390/ijms24109108. Int J Mol Sci. 2023. PMID: 37240454 Free PMC article.
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.
Formicola D, Podda I, Pantaleo M, Andreucci E, Lopergolo D, Giglio S, Santorelli FM, Chilosi A. Formicola D, et al. Among authors: santorelli fm. Neuropediatrics. 2023 Dec;54(6):407-411. doi: 10.1055/s-0043-1771033. Epub 2023 Aug 7. Neuropediatrics. 2023. PMID: 37549685
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model.
Marchese M, Bernardi S, Ogi A, Licitra R, Silvi G, Mero S, Galatolo D, Gammaldi N, Doccini S, Ratto GM, Rapposelli S, Neuhauss SCF, Zang J, Rocchiccioli S, Michelucci E, Ceccherini E, Santorelli FM. Marchese M, et al. Among authors: santorelli fm. Neurobiol Dis. 2024 Jul;197:106536. doi: 10.1016/j.nbd.2024.106536. Epub 2024 May 17. Neurobiol Dis. 2024. PMID: 38763444 Free PMC article.
636 results