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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
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2024 15

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153 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.
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.
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.
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.
Infective Endocarditis After Transcatheter Versus Surgical Aortic Valve Replacement.
Panagides V, Cuervo G, Llopis J, Abdel-Wahab M, Mangner N, Habib G, Regueiro A, Mestres CA, Tornos P, Durand E, Selton-Suty C, Ihlemann N, Bruun N, Urena M, Cecchi E, Thiele H, Durante-Mangoni E, Pellegrini C, Eltchaninoff H, Athan E, Søndergaard L, Linke A, Tattevin P, Del Val D, Quintana E, Chu V, Rodés-Cabau J, Miro JM; TAVI Infective Endocarditis International Registry and ICE Investigators. Panagides V, et al. Clin Infect Dis. 2024 Jan 25;78(1):179-187. doi: 10.1093/cid/ciad464. Clin Infect Dis. 2024. PMID: 37552784 Free article.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
Pan American League of Associations for Rheumatology Guidelines for the Treatment of Takayasu Arteritis.
de Souza AWS, Sato EI, Brance ML, Fernández-Ávila DG, Scolnik M, Magri SJ, Ugarte-Gil MF, Flores-Suárez LF, Saldarriaga-Rivera LM, Babini A, Zamora NV, Acosta Felquer ML, Vergara F, Carlevaris L, Scarafia S, Soriano Guppy ER, Unizony S. de Souza AWS, et al. Among authors: magri sj. J Clin Rheumatol. 2023 Oct 1;29(7):316-325. doi: 10.1097/RHU.0000000000002004. Epub 2023 Aug 9. J Clin Rheumatol. 2023. PMID: 37553869
Pan American League of Associations for Rheumatology Guidelines for the treatment of ANCA-associated vasculitis.
Magri SJ, Ugarte-Gil MF, Brance ML, Flores-Suárez LF, Fernández-Ávila DG, Scolnik M, Sato EI, de Souza AWS, Saldarriaga-Rivera LM, Babini AM, Zamora NV, Felquer MLA, Vergara F, Carlevaris L, Scarafia S, Guppy ERS, Unizony S; Pan American League of Associations for Rheumatology. Magri SJ, et al. Lancet Rheumatol. 2023 Aug;5(8):e483-e494. doi: 10.1016/S2665-9913(23)00128-5. Epub 2023 Jul 6. Lancet Rheumatol. 2023. PMID: 38251580
153 results