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Year Number of Results
2019 4
2020 10
2021 17
2022 14
2023 10
2024 3

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Page 1
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. 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.
The Authors Respond.
Katsoulis M, De Stavola B, Lai AG, Gomes M, Diaz-Ordaz K. Katsoulis M, et al. Epidemiology. 2022 Jan 1;33(1):e4-e5. doi: 10.1097/EDE.0000000000001429. Epidemiology. 2022. PMID: 34847088 No abstract available.
Experimental gene therapies for the NCLs.
Liu W, Kleine-Holthaus SM, Herranz-Martin S, Aristorena M, Mole SE, Smith AJ, Ali RR, Rahim AA. Liu W, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165772. doi: 10.1016/j.bbadis.2020.165772. Epub 2020 Mar 24. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32220628 Free article. Review.
Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype.
Cortese A, Lombardi R, Briani C, Callegari I, Benedetti L, Manganelli F, Luigetti M, Ferrari S, Clerici AM, Marfia GA, Rigamonti A, Carpo M, Fazio R, Corbo M, Mazzeo A, Giannini F, Cosentino G, Zardini E, Currò R, Gastaldi M, Vegezzi E, Alfonsi E, Berardinelli A, Kouton L, Manso C, Giannotta C, Doneddu P, Dacci P, Piccolo L, Ruiz M, Salvalaggio A, De Michelis C, Spina E, Topa A, Bisogni G, Romano A, Mariotto S, Mataluni G, Cerri F, Stancanelli C, Sabatelli M, Schenone A, Marchioni E, Lauria G, Nobile-Orazio E, Devaux J, Franciotta D. Cortese A, et al. Neurol Neuroimmunol Neuroinflamm. 2019 Nov 21;7(1):e639. doi: 10.1212/NXI.0000000000000639. Print 2020 Jan. Neurol Neuroimmunol Neuroinflamm. 2019. PMID: 31753915 Free PMC article.
Primary progressive aphasia: six questions in search of an answer.
Belder CRS, Marshall CR, Jiang J, Mazzeo S, Chokesuwattanaskul A, Rohrer JD, Volkmer A, Hardy CJD, Warren JD. Belder CRS, et al. J Neurol. 2024 Feb;271(2):1028-1046. doi: 10.1007/s00415-023-12030-4. Epub 2023 Oct 31. J Neurol. 2024. PMID: 37906327 Free PMC article. Review.
Genetic adaptations to SIV across chimpanzee populations.
Pawar H, Ostridge HJ, Schmidt JM, Andrés AM. Pawar H, et al. PLoS Genet. 2022 Aug 25;18(8):e1010337. doi: 10.1371/journal.pgen.1010337. eCollection 2022 Aug. PLoS Genet. 2022. PMID: 36007015 Free PMC article.
COVID-19 trajectories among 57 million adults in England: a cohort study using electronic health records.
Thygesen JH, Tomlinson C, Hollings S, Mizani MA, Handy A, Akbari A, Banerjee A, Cooper J, Lai AG, Li K, Mateen BA, Sattar N, Sofat R, Torralbo A, Wu H, Wood A, Sterne JAC, Pagel C, Whiteley WN, Sudlow C, Hemingway H, Denaxas S; Longitudinal Health and Wellbeing COVID-19 National Core Study and the CVD-COVID-UK/COVID-IMPACT Consortium. Thygesen JH, et al. Lancet Digit Health. 2022 Jul;4(7):e542-e557. doi: 10.1016/S2589-7500(22)00091-7. Epub 2022 Jun 9. Lancet Digit Health. 2022. PMID: 35690576 Free PMC article.
52 results