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Year Number of Results
2011 2
2012 4
2013 5
2014 6
2015 5
2016 4
2017 4
2018 3
2019 6
2020 6
2024 0

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38 results

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Page 1
Expanded genetic insight and clinical experience of DNMT1-complex disorder.
Bi H, Hojo K, Watanabe M, Yee C, Maski K, Saba S, Graff-Radford J, Machulda MM, St Louis EK, Humes IS, Flanagan EP, Nicolau S, Jones DT, Patterson MC, Kotagal S, Raz Y, Niu Z, Li J, Klein CJ. Bi H, et al. Neurol Genet. 2020 Jun 12;6(4):e456. doi: 10.1212/NXG.0000000000000456. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32754641 Free PMC article.
Demyelination in hereditary sensory neuropathy type-1C.
Saba S, Chen Y, Maddipati KR, Hackett M, Hu B, Li J. Saba S, et al. Ann Clin Transl Neurol. 2020 Sep;7(9):1502-1512. doi: 10.1002/acn3.51110. Epub 2020 Jul 30. Ann Clin Transl Neurol. 2020. PMID: 32730653 Free PMC article.
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, Lewis RA, Li J, Lloyd TE, Moroni I, Muntoni F, Pagliano E, Pisciotta C, Piscosquito G, Ramchandren S, Saporta M, Sadjadi R, Shy RR, Siskind CE, Sumner CJ, Walk D, Wilcox J, Yum SW, Züchner S, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). Fridman V, et al. Neurology. 2020 Mar 3;94(9):e884-e896. doi: 10.1212/WNL.0000000000009035. Epub 2020 Feb 11. Neurology. 2020. PMID: 32047073 Free PMC article.
Peripheral nerve magnetic resonance imaging.
Chen Y, Haacke EM, Li J. Chen Y, et al. F1000Res. 2019 Oct 28;8:F1000 Faculty Rev-1803. doi: 10.12688/f1000research.19695.1. eCollection 2019. F1000Res. 2019. PMID: 31700612 Free PMC article. Review.
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium. Tao F, et al. Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426. Ann Neurol. 2019. PMID: 30706531 Free PMC article.
38 results