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Page 1
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.
Perspectives of the Friedreich ataxia community on gene therapy clinical trials.
Trantham SJ, Coker MA, Norman S, Crowley E, Berthy J, Byrne BJ, Subramony S, Lou X, Corti M. Trantham SJ, et al. Mol Ther Methods Clin Dev. 2023 Dec 18;32(1):101179. doi: 10.1016/j.omtm.2023.101179. eCollection 2024 Mar 14. Mol Ther Methods Clin Dev. 2023. PMID: 38261944 Free PMC article.
Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias.
Lai RY, Rummey C, Amlang CJ, Lin CR, Chen TX, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Ying SH, Onyike CU, Zesiewicz TA, Bushara KO, Geschwind MD, Figueroa KP, Pulst SM, Subramony SH, Burns MR, Opal P, Duquette A, Ashizawa T, Hamedani AG, Davis MY, Srinivasan SR, Moore LR, Shakkottai VG, Rosenthal LS, Kuo SH. Lai RY, et al. Among authors: subramony sh. Mov Disord Clin Pract. 2024 May;11(5):496-503. doi: 10.1002/mdc3.14006. Epub 2024 Feb 29. Mov Disord Clin Pract. 2024. PMID: 38419568
The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.
Selvadurai LP, Perlman SL, Ashizawa T, Wilmot GR, Onyike CU, Rosenthal LS, Shakkottai VG, Paulson HL, Subramony SH, Bushara KO, Kuo SH, Dietiker C, Geschwind MD, Nelson AB, Gomez CM, Opal P, Zesiewicz TA, Hawkins T, Yacoubian TA, Nopoulos PC, Sha SJ, Morrison PE, Figueroa KP, Pulst SM, Schmahmann JD. Selvadurai LP, et al. Among authors: subramony sh. Cerebellum. 2024 Aug;23(4):1411-1425. doi: 10.1007/s12311-023-01651-0. Epub 2024 Jan 2. Cerebellum. 2024. PMID: 38165578 Free PMC article.
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
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, Subramony S, Pandolfo M, Schulz JB, Lin K, Delatycki MB; Clinical Management Guidelines Writing Group. Corben LA, et al. Orphanet J Rare Dis. 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3. Orphanet J Rare Dis. 2022. PMID: 36371255 Free PMC article.
A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol.
Georgiou-Karistianis N, Corben LA, Reetz K, Adanyeguh IM, Corti M, Deelchand DK, Delatycki MB, Dogan I, Evans R, Farmer J, França MC, Gaetz W, Harding IH, Harris KS, Hersch S, Joules R, Joers JJ, Krishnan ML, Lax M, Lock EF, Lynch D, Mareci T, Muthuhetti Gamage S, Pandolfo M, Papoutsi M, Rezende TJR, Roberts TPL, Rosenberg JT, Romanzetti S, Schulz JB, Schilling T, Schwarz AJ, Subramony S, Yao B, Zicha S, Lenglet C, Henry PG. Georgiou-Karistianis N, et al. PLoS One. 2022 Nov 21;17(11):e0269649. doi: 10.1371/journal.pone.0269649. eCollection 2022. PLoS One. 2022. PMID: 36410013 Free PMC article. Clinical Trial.
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.
Uebachs M, Wegner P, Schaaf S, Kugai S, Jacobi H, Kuo SH, Ashizawa T, Fluck J; EUROSCA study group; ESMI study group; RISCA study group; CRC-SCA study group; SCA Registry study group; Klockgether T, Faber J. Uebachs M, et al. Cerebellum. 2024 Jun;23(3):887-895. doi: 10.1007/s12311-023-01546-0. Epub 2023 Mar 31. Cerebellum. 2024. PMID: 37002505 Free PMC article.
184 results