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Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy.
Guber RD, Takyar V, Kokkinis A, Fox DA, Alao H, Kats I, Bakar D, Remaley AT, Hewitt SM, Kleiner DE, Liu CY, Hadigan C, Fischbeck KH, Rotman Y, Grunseich C. Guber RD, et al. Among authors: fischbeck kh. Neurology. 2017 Dec 12;89(24):2481-2490. doi: 10.1212/WNL.0000000000004748. Epub 2017 Nov 15. Neurology. 2017. PMID: 29142082 Free PMC article.
Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease.
Pourshafie N, Masati E, Lopez A, Bunker E, Snyder A, Edwards NA, Winkelsas AM, Fischbeck KH, Grunseich C. Pourshafie N, et al. Among authors: fischbeck kh. Neurobiol Dis. 2022 Oct 1;172:105832. doi: 10.1016/j.nbd.2022.105832. Epub 2022 Jul 27. Neurobiol Dis. 2022. PMID: 35907632 Free article.
Spinal and Bulbar Muscular Atrophy.
Grunseich C, Fischbeck KH. Grunseich C, et al. Among authors: fischbeck kh. Neurol Clin. 2015 Nov;33(4):847-54. doi: 10.1016/j.ncl.2015.07.002. Epub 2015 Sep 8. Neurol Clin. 2015. PMID: 26515625 Free PMC article. Review.
Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters.
Grunseich C, Wang IX, Watts JA, Burdick JT, Guber RD, Zhu Z, Bruzel A, Lanman T, Chen K, Schindler AB, Edwards N, Ray-Chaudhury A, Yao J, Lehky T, Piszczek G, Crain B, Fischbeck KH, Cheung VG. Grunseich C, et al. Among authors: fischbeck kh. Mol Cell. 2018 Feb 1;69(3):426-437.e7. doi: 10.1016/j.molcel.2017.12.030. Epub 2018 Jan 27. Mol Cell. 2018. PMID: 29395064 Free PMC article.
Nucleocytoplasmic transport defect in a North American patient with ALS8.
Guber RD, Schindler AB, Budron MS, Chen KL, Li Y, Fischbeck KH, Grunseich C. Guber RD, et al. Among authors: fischbeck kh. Ann Clin Transl Neurol. 2018 Feb 4;5(3):369-375. doi: 10.1002/acn3.515. eCollection 2018 Mar. Ann Clin Transl Neurol. 2018. PMID: 29560381 Free PMC article.
256 results