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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2005 5
2006 2
2008 1
2010 1
2011 4
2012 2
2014 2
2015 2
2016 1
2018 2
2020 2
2021 1
2022 5
2023 8
2024 2

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37 results

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Page 1
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.
Rimoldi M, Romagnoli G, Magri F, Antognozzi S, Cinnante C, Saccani E, Ciscato P, Zanotti S, Velardo D, Corti S, Comi GP, Ronchi D. Rimoldi M, et al. Among authors: ciscato p. Front Neurol. 2024 Jan 18;14:1281953. doi: 10.3389/fneur.2023.1281953. eCollection 2023. Front Neurol. 2024. PMID: 38304327 Free PMC article.
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: ciscato p. Brain Sci. 2023 Dec 6;13(12):1679. doi: 10.3390/brainsci13121679. Brain Sci. 2023. PMID: 38137127 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: ciscato p. 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
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: ciscato p. Int J Mol Sci. 2023 Mar 14;24(6):5551. doi: 10.3390/ijms24065551. Int J Mol Sci. 2023. PMID: 36982625 Free PMC article.
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: ciscato p. Skelet Muscle. 2022 Sep 29;12(1):23. doi: 10.1186/s13395-022-00306-8. Skelet Muscle. 2022. PMID: 36175989 Free PMC article. Review.
37 results