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Author Correction: 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: bai y. Nat Genet. 2020 Jun;52(6):640. doi: 10.1038/s41588-020-0649-7. Nat Genet. 2020. PMID: 32457452
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: bai y. 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.
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S. Lassuthova P, et al. Among authors: bai y. Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023. Am J Hum Genet. 2018. PMID: 29499166 Free PMC article.
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S. Rebelo AP, et al. Among authors: bai y. Brain. 2021 May 7;144(4):1197-1213. doi: 10.1093/brain/awab019. Brain. 2021. PMID: 33889941 Free PMC article.
Unfolded protein response, treatment and CMT1B.
Bai Y, Patzko A, Shy ME. Bai Y, et al. Rare Dis. 2013 Feb 20;1:e24049. doi: 10.4161/rdis.24049. eCollection 2013. Rare Dis. 2013. PMID: 25002989 Free PMC article.
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
Pisciotta C, Bai Y, Brennan KM, Wu X, Grider T, Feely S, Wang S, Moore S, Siskind C, Gonzalez M, Zuchner S, Shy ME. Pisciotta C, et al. Among authors: bai y. Neurology. 2015 Jul 21;85(3):228-34. doi: 10.1212/WNL.0000000000001773. Epub 2015 Jun 24. Neurology. 2015. PMID: 26109717 Free PMC article.
MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A.
Wang H, Davison M, Wang K, Xia TH, Call KM, Luo J, Wu X, Zuccarino R, Bacha A, Bai Y, Gutmann L, Feely SME, Grider T, Rossor AM, Reilly MM, Shy ME, Svaren J. Wang H, et al. Among authors: bai y. Neurology. 2021 Aug 3;97(5):e489-e500. doi: 10.1212/WNL.0000000000012266. Epub 2021 May 24. Neurology. 2021. PMID: 34031204 Free PMC article.
Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies.
Svaren J, Moran JJ, Wu X, Zuccarino R, Bacon C, Bai Y, Ramesh R, Gutmann L, Anderson DM, Pavelec D, Shy ME. Svaren J, et al. Among authors: bai y. Ann Neurol. 2019 Jun;85(6):887-898. doi: 10.1002/ana.25480. Epub 2019 Apr 22. Ann Neurol. 2019. PMID: 30945774 Free PMC article.
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.
Wang H, Davison M, Wang K, Xia TH, Kramer M, Call K, Luo J, Wu X, Zuccarino R, Bacon C, Bai Y, Moran JJ, Gutmann L, Feely SME, Grider T, Rossor AM, Reilly MM, Svaren J, Shy ME. Wang H, et al. Among authors: bai y. Ann Clin Transl Neurol. 2020 Jan;7(1):69-82. doi: 10.1002/acn3.50965. Epub 2019 Dec 12. Ann Clin Transl Neurol. 2020. PMID: 31833243 Free PMC article.
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