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34 results

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Page 1
Novel diagnostic paradigms for Friedreich ataxia.
Brigatti KW, Deutsch EC, Lynch DR, Farmer JM. Brigatti KW, et al. J Child Neurol. 2012 Sep;27(9):1146-51. doi: 10.1177/0883073812448440. Epub 2012 Jun 29. J Child Neurol. 2012. PMID: 22752491 Free PMC article. Review.
Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.
Regner SR, Wilcox NS, Friedman LS, Seyer LA, Schadt KA, Brigatti KW, Perlman S, Delatycki M, Wilmot GR, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Ravina B, Brocht A, Farmer JM, Lynch DR. Regner SR, et al. Among authors: brigatti kw. J Child Neurol. 2012 Sep;27(9):1152-8. doi: 10.1177/0883073812448462. Epub 2012 Jun 29. J Child Neurol. 2012. PMID: 22752494 Free PMC article.
Frataxin levels in peripheral tissue in Friedreich ataxia.
Lazaropoulos M, Dong Y, Clark E, Greeley NR, Seyer LA, Brigatti KW, Christie C, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Brocht AF, Farmer JM, Wilson RB, Deutsch EC, Lynch DR. Lazaropoulos M, et al. Among authors: brigatti kw. Ann Clin Transl Neurol. 2015 Aug;2(8):831-42. doi: 10.1002/acn3.225. Epub 2015 Jul 1. Ann Clin Transl Neurol. 2015. PMID: 26339677 Free PMC article.
Effects of genetic severity on glucose homeostasis in Friedreich ataxia.
Isaacs CJ, Brigatti KW, Kucheruk O, Ratcliffe S, Sciascia T, McCormack SE, Willi SM, Lynch DR. Isaacs CJ, et al. Among authors: brigatti kw. Muscle Nerve. 2016 Nov;54(5):887-894. doi: 10.1002/mus.25136. Epub 2016 Aug 30. Muscle Nerve. 2016. PMID: 27061687 Free PMC article.
Progression of Friedreich ataxia: quantitative characterization over 5 years.
Patel M, Isaacs CJ, Seyer L, Brigatti K, Gelbard S, Strawser C, Foerster D, Shinnick J, Schadt K, Yiu EM, Delatycki MB, Perlman S, Wilmot GR, Zesiewicz T, Mathews K, Gomez CM, Yoon G, Subramony SH, Brocht A, Farmer J, Lynch DR. Patel M, et al. Ann Clin Transl Neurol. 2016 Jul 25;3(9):684-94. doi: 10.1002/acn3.332. eCollection 2016 Sep. Ann Clin Transl Neurol. 2016. PMID: 27648458 Free PMC article.
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. Tan TY, et al. Am J Hum Genet. 2017 Dec 7;101(6):985-994. doi: 10.1016/j.ajhg.2017.10.006. Epub 2017 Nov 30. Am J Hum Genet. 2017. PMID: 29198724 Free PMC article.
TNNT1 nemaline myopathy: natural history and therapeutic frontier.
Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP, Strauss KA. Fox MD, et al. Among authors: brigatti kw. Hum Mol Genet. 2018 Sep 15;27(18):3272-3282. doi: 10.1093/hmg/ddy233. Hum Mol Genet. 2018. PMID: 29931346 Free PMC article.
34 results