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

Year Number of Results
2008 4
2009 4
2010 3
2011 9
2012 7
2013 11
2014 4
2015 9
2016 7
2017 5
2018 8
2019 7
2020 9
2021 5
2022 14
2023 16
2024 4

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112 results

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Page 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: ronchi d. Sci Transl Med. 2024 Apr 3;16(741):eadg2841. doi: 10.1126/scitranslmed.adg2841. Epub 2024 Apr 3. Sci Transl Med. 2024. PMID: 38569017
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: ronchi d. 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: ronchi d. Brain Sci. 2023 Dec 6;13(12):1679. doi: 10.3390/brainsci13121679. Brain Sci. 2023. PMID: 38137127 Free PMC article.
Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome.
Di Rauso G, Castellucci A, Cavallieri F, Tozzi A, Fioravanti V, Monfrini E, Gessani A, Rossi J, Campanini I, Merlo A, Ronchi D, Napoli M, Pascarella R, Grisanti S, Ferrulli G, Sabadini R, Di Fonzo A, Ghidini A, Valzania F. Di Rauso G, et al. Among authors: ronchi d. Brain Sci. 2023 Oct 17;13(10):1467. doi: 10.3390/brainsci13101467. Brain Sci. 2023. PMID: 37891834 Free PMC article.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD, Mercuri E; ITASMAC Working Group. Ricci M, et al. Among authors: ronchi d. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F, Izzo R, Colangelo I, Legati A, Zanetti N, Garavaglia B, Lamantea E, Peverelli L, Ardissone A, Moroni I, Maggi L, Bonanno S, Fiori L, Velardo D, Magri F, Comi GP, Ronchi D, Ghezzi D, Lamperti C. Invernizzi F, et al. Among authors: ronchi d. Genes (Basel). 2023 Jul 2;14(7):1393. doi: 10.3390/genes14071393. Genes (Basel). 2023. PMID: 37510298 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. 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
112 results