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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
Börjeson-Forssman-Lehmann syndrome localization.
Mathews KD, Buetow K, Turner G, Mulley J. Mathews KD, et al. Am J Med Genet. 1989 Dec;34(4):475. doi: 10.1002/ajmg.1320340404. Am J Med Genet. 1989. PMID: 2491427 No abstract available.
Psychometric properties of the Friedreich Ataxia Rating Scale.
Rummey C, Corben LA, Delatycki MB, Subramony SH, Bushara K, Gomez CM, Hoyle JC, Yoon G, Ravina B, Mathews KD, Wilmot G, Zesiewicz T, Perlman S, Farmer JM, Lynch DR. Rummey C, et al. Among authors: mathews kd. Neurol Genet. 2019 Oct 29;5(6):371. doi: 10.1212/NXG.0000000000000371. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042904 Free PMC article.
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. Neurol Genet. 2018 Jul 23;4(4):e250. doi: 10.1212/NXG.0000000000000250. eCollection 2018 Aug. Neurol Genet. 2018. PMID: 30065952 Free PMC article.
Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study.
Patel M, McCormick A, Tamaroff J, Dunn J, Mitchell JA, Lin KY, Farmer J, Rummey C, Perlman SL, Delatycki MB, Wilmot GR, Mathews KD, Yoon G, Hoyle J, Corti M, Subramony SH, Zesiewicz T, Lynch D, McCormack SE. Patel M, et al. Among authors: mathews kd. Neurol Genet. 2021 Nov 12;7(6):e638. doi: 10.1212/NXG.0000000000000638. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34786480 Free PMC article.
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.
Ejaz R, Chen S, Isaacs CJ, Carnevale A, Wilson J, George K, Delatycki MB, Perlman SL, Mathews KD, Wilmot GR, Hoyle JC, Subramony SH, Zesiewicz T, Farmer JM, Lynch DR, Yoon G. Ejaz R, et al. Among authors: mathews kd. J Child Neurol. 2018 May;33(6):397-404. doi: 10.1177/0883073818764941. Epub 2018 Apr 2. J Child Neurol. 2018. PMID: 29607705
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP. Willer T, et al. Among authors: mathews kd. Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252. Nat Genet. 2012. PMID: 22522420 Free PMC article.
Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort.
Xiong E, Lynch AE, Corben LA, Delatycki MB, Subramony SH, Bushara K, Gomez CM, Hoyle JC, Yoon G, Ravina B, Mathews KD, Wilmot G, Zesiewicz T, Susan Perlman M, Farmer JM, Rummey C, Lynch DR. Xiong E, et al. Among authors: mathews kd. J Neurol Sci. 2020 Mar 15;410:116642. doi: 10.1016/j.jns.2019.116642. Epub 2019 Dec 24. J Neurol Sci. 2020. PMID: 31901720
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.
Rummey C, Flynn JM, Corben LA, Delatycki MB, Wilmot G, Subramony SH, Bushara K, Duquette A, Gomez CM, Hoyle JC, Roxburgh R, Seeberger L, Yoon G, Mathews KD, Zesiewicz T, Perlman S, Lynch DR. Rummey C, et al. Among authors: mathews kd. Ann Clin Transl Neurol. 2021 Jun;8(6):1239-1250. doi: 10.1002/acn3.51352. Epub 2021 May 5. Ann Clin Transl Neurol. 2021. PMID: 33949801 Free PMC article.
158 results