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

Year Number of Results
2004 3
2005 3
2006 2
2007 3
2008 3
2009 4
2010 2
2011 2
2012 3
2013 2
2014 6
2015 3
2016 1
2017 1
2018 2
2019 3
2020 1
2021 1
2022 3
2023 5
2024 0

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46 results

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Page 1
Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.
Rizzo F, Bono S, Ruepp MD, Salani S, Ottoboni L, Abati E, Melzi V, Cordiglieri C, Pagliarani S, De Gioia R, Anastasia A, Taiana M, Garbellini M, Lodato S, Kunderfranco P, Cazzato D, Cartelli D, Lonati C, Bresolin N, Comi G, Nizzardo M, Corti S. Rizzo F, et al. Among authors: salani s. Cell Mol Life Sci. 2023 Nov 25;80(12):373. doi: 10.1007/s00018-023-05018-w. Cell Mol Life Sci. 2023. PMID: 38007410 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: salani 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
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: salani s. Int J Mol Sci. 2023 Mar 14;24(6):5551. doi: 10.3390/ijms24065551. Int J Mol Sci. 2023. PMID: 36982625 Free PMC article.
Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.
Kakouri AC, Votsi C, Oulas A, Nicolaou P, Aureli M, Lunghi G, Samarani M, Compagnoni GM, Salani S, Di Fonzo A, Christophides T, Tanteles GA, Zamba-Papanicolaou E, Pantzaris M, Spyrou GM, Christodoulou K. Kakouri AC, et al. Among authors: salani s. Cell Biosci. 2022 Mar 11;12(1):29. doi: 10.1186/s13578-022-00754-1. Cell Biosci. 2022. PMID: 35277195 Free PMC article.
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.
Taiana M, Govoni A, Salani S, Kleinschmidt N, Galli N, Saladini M, Ghezzi SB, Melzi V, Bersani M, Del Bo R, Muehlemann O, Bertini E, Sansone V, Albamonte E, Messina S, Mari F, Cesaroni E, Porfiri L, Tiziano FD, Vita GL, Sframeli M, Bonanno C, Bresolin N, Comi G, Corti S, Nizzardo M. Taiana M, et al. Among authors: salani s. J Neurol Neurosurg Psychiatry. 2022 Aug;93(8):908-910. doi: 10.1136/jnnp-2021-326425. Epub 2022 Jan 27. J Neurol Neurosurg Psychiatry. 2022. PMID: 35086940 Free PMC article. No abstract available.
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
Monfrini E, Cogiamanian F, Salani S, Straniero L, Fagiolari G, Garbellini M, Carsana E, Borellini L, Biella F, Moggio M, Bresolin N, Corti S, Duga S, Comi GP, Aureli M, Di Fonzo A. Monfrini E, et al. Among authors: salani s. Ann Neurol. 2021 Apr;89(4):834-839. doi: 10.1002/ana.26021. Epub 2021 Feb 2. Ann Neurol. 2021. PMID: 33452836 Free PMC article.
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
Ronchi D, Monfrini E, Bonato S, Mancinelli V, Cinnante C, Salani S, Bordoni A, Ciscato P, Fortunato F, Villa M, Di Fonzo A, Corti S, Bresolin N, Comi GP. Ronchi D, et al. Among authors: salani s. Ann Clin Transl Neurol. 2020 May;7(5):839-845. doi: 10.1002/acn3.51025. Epub 2020 Apr 24. Ann Clin Transl Neurol. 2020. PMID: 32329585 Free PMC article.
46 results