Simona Zanotti - Search Results

Year	Number of Results
2005	2
2006	1
2009	2
2010	2
2011	2
2013	2
2014	2
2015	6
2016	3
2017	1
2018	5
2021	1
2022	10
2023	7
2024	3

1

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.

Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, Park JH, Immadisetty K, Miles LB, Essawi M, McModie S, Ferreira LF, Zanotti S, Neuhaus SB, Medne L, ElBagoury N, Johnson KR, Zhang Y, Laing NG, Davis MR, Bryson-Richardson RJ, Hwee DT, Hartman JJ, Malik FI, Kekenes-Huskey PM, Comi GP, Sharaf-Eldin W, Marquardt T, Ravenscroft G, Bönnemann CG, Ottenheijm CAC. Donkervoort S, et al. Among authors: zanotti s. Sci Transl Med. 2024 Apr 3;16(741):eadg2841. doi: 10.1126/scitranslmed.adg2841. Epub 2024 Apr 3. Sci Transl Med. 2024. PMID: 38569017

2

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition.

Piga D, Rimoldi M, Magri F, Zanotti S, Napoli L, Ripolone M, Pagliarani S, Ciscato P, Velardo D, D'Amico A, Bertini E, Comi GP, Ronchi D, Corti S. Piga D, et al. Among authors: zanotti s. Front Neurol. 2024 Mar 4;15:1340693. doi: 10.3389/fneur.2024.1340693. eCollection 2024. Front Neurol. 2024. PMID: 38500810 Free PMC article.

3

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: zanotti s. Front Neurol. 2024 Jan 18;14:1281953. doi: 10.3389/fneur.2023.1281953. eCollection 2023. Front Neurol. 2024. PMID: 38304327 Free PMC article.

4

The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls.

Magri F, Napoli L, Ripolone M, Ciscato P, Moggio M, Corti S, Comi GP, Sciacco M, Zanotti S. Magri F, et al. Among authors: zanotti s. Int J Mol Sci. 2023 Dec 12;24(24):17402. doi: 10.3390/ijms242417402. Int J Mol Sci. 2023. PMID: 38139231 Free PMC article.

5

Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant.

Rimoldi M, Magri F, Antognozzi S, Ripolone M, Salani S, Piga D, Bertolasi L, Zanotti S, Ciscato P, Fortunato F, Moggio M, Corti S, Comi GP, Ronchi D. Rimoldi M, et al. Among authors: zanotti s. Front Genet. 2023 Nov 30;14:1278572. doi: 10.3389/fgene.2023.1278572. eCollection 2023. Front Genet. 2023. PMID: 38098475 Free PMC article.

6

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: zanotti s. 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

7

Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene.

Zanotti S, Ripolone M, Napoli L, Velardo D, Salani S, Ciscato P, Priori S, Kukavica D, Mazzanti A, Diamanti L, Vegezzi E, Moggio M, Corti S, Comi G, Sciacco M. Zanotti S, et al. Cells. 2023 May 17;12(10):1405. doi: 10.3390/cells12101405. Cells. 2023. PMID: 37408239 Free PMC article.

8

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. Int J Mol Sci. 2023 Mar 14;24(6):5551. doi: 10.3390/ijms24065551. Int J Mol Sci. 2023. PMID: 36982625 Free PMC article.

9

Traumatic Brain Injury Triggers Neurodegeneration in a Mildly Symptomatic MELAS Patient: Implications on the Detrimental Role of Damaged Mitochondria in Determining Head Trauma Sequalae in the General Population.

Zanotti S, Velardo D, Sciacco M. Zanotti S, et al. Metabolites. 2022 Dec 28;13(1):46. doi: 10.3390/metabo13010046. Metabolites. 2022. PMID: 36676971 Free PMC article.

10

MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization.

Ripolone M, Zanotti S, Napoli L, Ronchi D, Ciscato P, Comi GP, Moggio M, Sciacco M. Ripolone M, et al. Among authors: zanotti s. J Pers Med. 2023 Jan 11;13(1):147. doi: 10.3390/jpm13010147. J Pers Med. 2023. PMID: 36675808 Free PMC article.

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