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Year Number of Results
2003 2
2009 1
2011 2
2012 1
2014 1
2018 1
2020 1
2021 2
2022 6
2023 7
2024 3

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27 results

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Page 1
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Zanotti S, Magri F, Salani S, Napoli L, Ripolone M, Ronchi D, Fortunato F, Ciscato P, Velardo D, D'Angelo MG, Gualandi F, Nigro V, Sciacco M, Corti S, Comi GP, Piga D. Zanotti S, et al. Among authors: napoli l. Int J Mol Sci. 2023 Mar 14;24(6):5551. doi: 10.3390/ijms24065551. Int J Mol Sci. 2023. PMID: 36982625 Free PMC article.
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Ronchi D, Garbellini M, Magri F, Menni F, Meneri M, Bedeschi MF, Dilena R, Cecchetti V, Picciolli I, Furlan F, Polimeni V, Salani S, Pezzoli L, Fortunato F, Bellini M, Piga D, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Mangili G, Mosca F, Corti S, Iascone M, Comi GP. Ronchi D, et al. Among authors: napoli l. Eur J Hum Genet. 2023 Dec;31(12):1414-1420. doi: 10.1038/s41431-023-01433-6. Epub 2023 Jul 19. Eur J Hum Genet. 2023. PMID: 37468577
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
Magri F, Antognozzi S, Ripolone M, Zanotti S, Napoli L, Ciscato P, Velardo D, Scuvera G, Nicotra V, Giacobbe A, Milani D, Fortunato F, Garbellini M, Sciacco M, Corti S, Comi GP, Ronchi D. Magri F, et al. Among authors: napoli l. Skelet Muscle. 2022 Sep 29;12(1):23. doi: 10.1186/s13395-022-00306-8. Skelet Muscle. 2022. PMID: 36175989 Free PMC article. Review.
Lafora Disease: A Case Report and Evolving Treatment Advancements.
Ferrari Aggradi CR, Rimoldi M, Romagnoli G, Velardo D, Meneri M, Iacobucci D, Ripolone M, Napoli L, Ciscato P, Moggio M, Comi GP, Ronchi D, Corti S, Abati E. Ferrari Aggradi CR, et al. Among authors: napoli l. Brain Sci. 2023 Dec 6;13(12):1679. doi: 10.3390/brainsci13121679. Brain Sci. 2023. PMID: 38137127 Free PMC article.
Flvcr1a deficiency promotes heme-based energy metabolism dysfunction in skeletal muscle.
Mistretta M, Fiorito V, Allocco AL, Ammirata G, Hsu MY, Digiovanni S, Belicchi M, Napoli L, Ripolone M, Trombetta E, Mauri P, Farini A, Meregalli M, Villa C, Porporato PE, Miniscalco B, Crich SG, Riganti C, Torrente Y, Tolosano E. Mistretta M, et al. Among authors: napoli l. Cell Rep. 2024 Mar 26;43(3):113854. doi: 10.1016/j.celrep.2024.113854. Epub 2024 Feb 26. Cell Rep. 2024. PMID: 38412099 Free article.
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.
Mauri E, Piga D, Pagliarani S, Magri F, Manini A, Sciacco M, Ripolone M, Napoli L, Borellini L, Cinnante C, Cassandrini D, Corti S, Bresolin N, Comi GP, Govoni A. Mauri E, et al. Among authors: napoli l. J Neurol Sci. 2021 Dec 15;431:120047. doi: 10.1016/j.jns.2021.120047. Epub 2021 Nov 3. J Neurol Sci. 2021. PMID: 34763287 No abstract available.
27 results