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179 results

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Page 1
Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.
Tawil R, Wagner KR, Hamel JI, Leung DG, Statland JM, Wang LH, Genge A, Sacconi S, Lochmüller H, Reyes-Leiva D, Diaz-Manera J, Alonso-Perez J, Muelas N, Vilchez JJ, Pestronk A, Gibson S, Goyal NA, Hayward LJ, Johnson N, LoRusso S, Freimer M, Shieh PB, Subramony SH, van Engelen B, Kools J, Leinhard OD, Widholm P, Morabito C, Moxham CM, Cadavid D, Mellion ML, Odueyungbo A, Tracewell WG, Accorsi A, Ronco L, Gould RJ, Shoskes J, Rojas LA, Jiang JG. Tawil R, et al. Among authors: subramony sh. Lancet Neurol. 2024 May;23(5):477-486. doi: 10.1016/S1474-4422(24)00073-5. Lancet Neurol. 2024. PMID: 38631764 Clinical Trial.
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.
Lynch DR, Chin MP, Boesch S, Delatycki MB, Giunti P, Goldsberry A, Hoyle JC, Mariotti C, Mathews KD, Nachbauer W, O'Grady M, Perlman S, Subramony SH, Wilmot G, Zesiewicz T, Meyer CJ. Lynch DR, et al. Among authors: subramony sh. Mov Disord. 2023 Feb;38(2):313-320. doi: 10.1002/mds.29286. Epub 2022 Nov 29. Mov Disord. 2023. PMID: 36444905 Clinical Trial.
Deep brain stimulation for tremor associated with underlying ataxia syndromes: a case series and discussion of issues.
Oyama G, Thompson A, Foote KD, Limotai N, Abd-El-Barr M, Maling N, Malaty IA, Rodriguez RL, Subramony SH, Ashizawa T, Okun MS. Oyama G, et al. Among authors: subramony sh. Tremor Other Hyperkinet Mov (N Y). 2014 Jul 9;4:228. doi: 10.7916/D8542KQ5. eCollection 2014. Tremor Other Hyperkinet Mov (N Y). 2014. PMID: 25120941 Free PMC article.
Emerging therapies in hereditary ataxias.
Eisel MLS, Burns M, Ashizawa T, Byrne B, Corti M, Subramony SH. Eisel MLS, et al. Among authors: subramony sh. Trends Mol Med. 2024 Aug 16:S1471-4914(24)00194-1. doi: 10.1016/j.molmed.2024.07.008. Online ahead of print. Trends Mol Med. 2024. PMID: 39153956 Review.
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
Morimoto M, Ryu E, Steger BJ, Dixit A, Saito Y, Yoo J, van der Ven AT, Hauser N, Steinbach PJ, Oura K, Huang AY, Kortüm F, Ninomiya S, Rosenthal EA, Robinson HK, Guegan K, Denecke J, Subramony SH, Diamonstein CJ, Ping J, Fenner M, Balton EV, Strohbehn S, Allworth A, Bamshad MJ, Gandhi M, Dipple KM, Blue EE, Jarvik GP; University of Washington Center for Rare Disease Research; Lau CC, Holm IA, Weisz-Hubshman M, Solomon BD; Undiagnosed Diseases Network; Nelson SF, Nishino I, Adams DR, Kang S, Gahl WA, Toro C, Myung K, Malicdan MCV. Morimoto M, et al. Among authors: subramony sh. Am J Hum Genet. 2024 Sep 5;111(9):1970-1993. doi: 10.1016/j.ajhg.2024.07.008. Epub 2024 Aug 5. Am J Hum Genet. 2024. PMID: 39106866
Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia.
Rezende TJR, Petit E, Park YW, Tezenas du Montcel S, Joers JM, DuBois JM, Moore Arnold H, Povazan M, Banan G, Valabregue R, Ehses P, Faber J, Coupé P, Onyike CU, Barker PB, Schmahmann JD, Ratai EM, Subramony SH, Mareci TH, Bushara KO, Paulson H, Klockgether T, Durr A, Ashizawa T, Lenglet C, Öz G; READISCA Consortium. Rezende TJR, et al. Among authors: subramony sh. Mov Disord. 2024 Oct;39(10):1856-1867. doi: 10.1002/mds.29934. Epub 2024 Jul 26. Mov Disord. 2024. PMID: 39056163
SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
Petit E, Schmitz-Hübsch T, Coarelli G, Jacobi H, Heinzmann A, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Pulst SM, Subramony SH, Ewenczyk C, Brice A, Durr A, Klockgether T, Ashizawa T, Tezenas du Montcel S. Petit E, et al. Among authors: subramony sh. J Neurol. 2024 Jul;271(7):3743-3753. doi: 10.1007/s00415-024-12475-1. Epub 2024 Jun 1. J Neurol. 2024. PMID: 38822840 Free PMC article.
Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure.
Seabury J, Varma A, Weinstein J, Rosero SJ, Engebrecht C, Khosa S, Zizzi C, Wagner ES, Alexandrou D, Cohen BL, Dilek N, Heatwole JM, Lynch DR, Park CC, Wells M, Subramony SH, Heatwole CR. Seabury J, et al. Among authors: subramony sh. Neurol Clin Pract. 2024 Jun;14(3):e200303. doi: 10.1212/CPJ.0000000000200300. Epub 2024 May 10. Neurol Clin Pract. 2024. PMID: 38751829
179 results