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642 results

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Page 1
Longitudinal analysis of contrast acuity in Friedreich ataxia.
Hamedani AG, Hauser LA, Perlman S, Mathews K, Wilmot GR, Zesiewicz T, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Lynch DR. Hamedani AG, et al. Among authors: mathews k. Neurol Genet. 2018 Jul 23;4(4):e250. doi: 10.1212/NXG.0000000000000250. eCollection 2018 Aug. Neurol Genet. 2018. PMID: 30065952 Free PMC article.
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gécz J. Lower KM, et al. Among authors: mathews kd. Nat Genet. 2002 Dec;32(4):661-5. doi: 10.1038/ng1040. Epub 2002 Nov 4. Nat Genet. 2002. PMID: 12415272
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ. Bruno MK, et al. Among authors: mathews kd. Neurology. 2004 Dec 28;63(12):2280-7. doi: 10.1212/01.wnl.0000147298.05983.50. Neurology. 2004. PMID: 15623687 Review.
Antioxidant use in Friedreich ataxia.
Myers L, Farmer JM, Wilson RB, Friedman L, Tsou A, Perlman SL, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews KD, Balcer LJ, Lynch DR. Myers L, et al. J Neurol Sci. 2008 Apr 15;267(1-2):174-6. doi: 10.1016/j.jns.2007.10.008. Epub 2007 Nov 7. J Neurol Sci. 2008. PMID: 17988688 Free PMC article. Clinical Trial.
Health related quality of life measures in Friedreich Ataxia.
Epstein E, Farmer JM, Tsou A, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews K, Wilson RB, Balcer LJ, Lynch DR. Epstein E, et al. Among authors: mathews k. J Neurol Sci. 2008 Sep 15;272(1-2):123-8. doi: 10.1016/j.jns.2008.05.009. Epub 2008 Jun 20. J Neurol Sci. 2008. PMID: 18571673
Mortality in Friedreich ataxia.
Tsou AY, Paulsen EK, Lagedrost SJ, Perlman SL, Mathews KD, Wilmot GR, Ravina B, Koeppen AH, Lynch DR. Tsou AY, et al. Among authors: mathews kd. J Neurol Sci. 2011 Aug 15;307(1-2):46-9. doi: 10.1016/j.jns.2011.05.023. Epub 2011 Jun 8. J Neurol Sci. 2011. PMID: 21652007
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. 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.
Analysis of the visual system in Friedreich ataxia.
Seyer LA, Galetta K, Wilson J, Sakai R, Perlman S, Mathews K, Wilmot GR, Gomez CM, Ravina B, Zesiewicz T, Bushara KO, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Balcer LJ, Lynch DR. Seyer LA, et al. Among authors: mathews k. J Neurol. 2013 Sep;260(9):2362-9. doi: 10.1007/s00415-013-6978-z. Epub 2013 Jun 18. J Neurol. 2013. PMID: 23775342
642 results