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Year | Number of Results |
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Page 1
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304.
Brain. 2020.
PMID: 33150406
Free PMC article.
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mo A, Saffari A, Kellner M, Döbler-Neumann M, Jordan C, Srivastava S, Zhang B, Sahin M, Fink JK, Smith L, Posey JE, Alter KE, Toro C, Blackstone C, Soldatos AG, Christie M, Schüle R, Ebrahimi-Fakhari D.
Mo A, et al. Among authors: soldatos ag.
Mov Disord. 2022 Dec;37(12):2440-2446. doi: 10.1002/mds.29225. Epub 2022 Sep 14.
Mov Disord. 2022.
PMID: 36103453
Free PMC article.
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Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
Montano C, Cassini T, Ziegler SG, Boehm M, Nicoli ER, Mindell JA, Soldatos AG, Manoli I, Wolfe L, Macnamara EF, Malicdan MCV, Adams DR, Tifft CJ, Toro C, Gahl WA.
Montano C, et al. Among authors: soldatos ag.
J Inherit Metab Dis. 2022 Sep;45(5):907-918. doi: 10.1002/jimd.12506. Epub 2022 May 16.
J Inherit Metab Dis. 2022.
PMID: 35490291
Review.
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Use of the Vineland-3, a measure of adaptive functioning, in CLN3.
Dang Do AN, Thurm AE, Farmer CA, Soldatos AG, Chlebowski CE, O'Reilly JK, Porter FD.
Dang Do AN, et al. Among authors: soldatos ag.
Am J Med Genet A. 2022 Apr;188(4):1056-1064. doi: 10.1002/ajmg.a.62607. Epub 2021 Dec 16.
Am J Med Genet A. 2022.
PMID: 34913584
Free PMC article.
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Brain proton MR spectroscopy measurements in CLN3 disease.
Dang Do AN, Baker EH, Farmer CA, Soldatos AG, Thurm AE, Porter FD.
Dang Do AN, et al. Among authors: soldatos ag.
Mol Genet Metab. 2023 May;139(1):107584. doi: 10.1016/j.ymgme.2023.107584. Epub 2023 Apr 15.
Mol Genet Metab. 2023.
PMID: 37086568
Free PMC article.
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Neurofilament light chain levels correlate with clinical measures in CLN3 disease.
Dang Do AN, Sinaii N, Masvekar RR, Baker EH, Thurm AE, Soldatos AG, Bianconi SE, Bielekova B, Porter FD.
Dang Do AN, et al. Among authors: soldatos ag.
Genet Med. 2021 Apr;23(4):751-757. doi: 10.1038/s41436-020-01035-3. Epub 2020 Nov 26.
Genet Med. 2021.
PMID: 33239751
Free PMC article.
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Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, Köhler S, Lee EM, Links AE, Markello TC, Mungall CJ, Nehrebecky M, Robinson PN, Sincan M, Soldatos AG, Tifft CJ, Toro C, Trang H, Valkanas E, Vasilevsky N, Wahl C, Wolfe LA, Boerkoel CF, Brudno M, Haendel MA, Gahl WA, Smedley D.
Bone WP, et al. Among authors: soldatos ag.
Genet Med. 2016 Jun;18(6):608-17. doi: 10.1038/gim.2015.137. Epub 2015 Nov 12.
Genet Med. 2016.
PMID: 26562225
Free PMC article.
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