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

Year Number of Results
2005 1
2006 2
2007 2
2008 1
2009 1
2011 2
2012 4
2013 7
2014 12
2015 12
2016 12
2017 10
2018 10
2019 16
2020 25
2021 15
2022 24
2023 19
2024 15

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167 results

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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. Among authors: lin z. 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 young-onset Parkinson disease.
Huang Y, Chen Y, Lin Y, Lin Z, Yang M, Zhang J, Shi Q, Xu M. Huang Y, et al. Among authors: lin z. Minerva Med. 2023 Apr;114(2):247-249. doi: 10.23736/S0026-4806.22.08421-X. Epub 2022 Nov 7. Minerva Med. 2023. PMID: 36345874 Free article. No abstract available.
SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS.
Lone MA, Zeng S, Bourquin F, Wang M, Huang S, Lin Z, Tang B, Zhang R, Hornemann T. Lone MA, et al. Among authors: lin z. Biochim Biophys Acta Mol Cell Biol Lipids. 2023 Sep;1868(9):159359. doi: 10.1016/j.bbalip.2023.159359. Epub 2023 Jun 20. Biochim Biophys Acta Mol Cell Biol Lipids. 2023. PMID: 37348646
Cardiac CIP protein regulates dystrophic cardiomyopathy.
He X, Liu J, Gu F, Chen J, Lu YW, Ding J, Guo H, Nie M, Kataoka M, Lin Z, Hu X, Chen H, Liao X, Dong Y, Min W, Deng ZL, Pu WT, Huang ZP, Wang DZ. He X, et al. Among authors: lin z. Mol Ther. 2022 Feb 2;30(2):898-914. doi: 10.1016/j.ymthe.2021.08.022. Epub 2021 Aug 14. Mol Ther. 2022. PMID: 34400329 Free PMC article.
167 results