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

Year Number of Results
1961 1
1981 1
1983 1
1987 1
1988 1
1990 1
1994 2
1995 3
1996 3
1997 4
1998 1
2001 1
2003 1
2005 1
2006 3
2007 1
2008 1
2009 2
2010 1
2011 2
2012 5
2013 4
2014 5
2015 4
2016 7
2017 4
2018 3
2019 11
2020 25
2021 21
2022 14
2023 19
2024 4

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142 results

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Page 1
Multidimensional Impact of Mediterranean Diet on IBD Patients.
Chicco F, Magrì S, Cingolani A, Paduano D, Pesenti M, Zara F, Tumbarello F, Urru E, Melis A, Casula L, Fantini MC, Usai P. Chicco F, et al. Among authors: magri s. Inflamm Bowel Dis. 2021 Jan 1;27(1):1-9. doi: 10.1093/ibd/izaa097. Inflamm Bowel Dis. 2021. PMID: 32440680 Free PMC article. Clinical Trial.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium; Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Among authors: magri s. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058 Free PMC article.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Pipis M, et al. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 Free PMC article.
Evolving Always-Critical Networks.
Villani M, Magrì S, Roli A, Serra R. Villani M, et al. Among authors: magri s. Life (Basel). 2020 Mar 4;10(3):22. doi: 10.3390/life10030022. Life (Basel). 2020. PMID: 32143532 Free PMC article.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: magri s. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Among authors: magri s. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
Castellotti B, Canafoglia L, Freri E, Tappatà M, Messina G, Magri S, DiFrancesco JC, Fanella M, Di Bonaventura C, Morano A, Granata T, Gellera C, Franceschetti S, Michelucci R. Castellotti B, et al. Among authors: magri s. Epilepsia Open. 2023 Jun;8(2):645-650. doi: 10.1002/epi4.12697. Epub 2023 Feb 9. Epilepsia Open. 2023. PMID: 36719163 Free PMC article.
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.
Pisciotta C, Bertini A, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Tozza S, Cavallaro T, Taioli F, Ferrarini M, Grandis M, Bellone E, Mandich P, Previtali SC, Falzone Y, Allegri I, Padua L, Pazzaglia C, Quattrone A, Valentino P, Gentile L, Russo M, Calabrese D, Moroni I, Pagliano E, Saveri P, Magri S, Baratta S, Taroni F, Mazzeo A, Santoro L, Vita G, Pareyson D; Italian CMT Network. Pisciotta C, et al. Among authors: magri s. Eur J Neurol. 2023 Aug;30(8):2461-2470. doi: 10.1111/ene.15860. Epub 2023 May 26. Eur J Neurol. 2023. PMID: 37170966
142 results