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194 results

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Page 1
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh VS, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, Savarese M. Ranta-Aho J, et al. Among authors: subramony s. Ann Clin Transl Neurol. 2024 Sep;11(9):2392-2405. doi: 10.1002/acn3.52154. Epub 2024 Aug 2. Ann Clin Transl Neurol. 2024. PMID: 39095936 Free PMC article.
Degenerative Ataxias: challenges in clinical research.
Subramony SH. Subramony SH. Ann Clin Transl Neurol. 2016 Nov 17;4(1):53-60. doi: 10.1002/acn3.374. eCollection 2017 Jan. Ann Clin Transl Neurol. 2016. PMID: 28078315 Free PMC article. Review.
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. 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.
Impact of diabetes in the Friedreich ataxia clinical outcome measures study.
McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, Yoon G, Hoyle C, Subramony SH, Zesiewicz T, Lynch DR, McCormack SE. McCormick A, et al. Among authors: subramony sh. Ann Clin Transl Neurol. 2017 Jul 26;4(9):622-631. doi: 10.1002/acn3.439. eCollection 2017 Sep. Ann Clin Transl Neurol. 2017. PMID: 28904984 Free PMC article.
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: subramony sh. 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.
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
Lynch DR, Goldsberry A, Rummey C, Farmer J, Boesch S, Delatycki MB, Giunti P, Hoyle JC, Mariotti C, Mathews KD, Nachbauer W, Perlman S, Subramony SH, Wilmot G, Zesiewicz T, Weissfeld L, Meyer C. Lynch DR, et al. Among authors: subramony sh. Ann Clin Transl Neurol. 2024 Jan;11(1):4-16. doi: 10.1002/acn3.51897. Epub 2023 Sep 10. Ann Clin Transl Neurol. 2024. PMID: 37691319 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. Among authors: subramony sh. 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.
194 results