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207 results

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Page 1
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: giunti p. Mov Disord. 2023 Feb;38(2):313-320. doi: 10.1002/mds.29286. Epub 2022 Nov 29. Mov Disord. 2023. PMID: 36444905 Clinical Trial.
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network; Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Tezenas du Montcel S, et al. Among authors: giunti p. Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26. Brain. 2014. PMID: 24972706 Free PMC article.
Consensus clinical management guidelines for Friedreich ataxia.
Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB; Clinical Management Guidelines Writing Group. Corben LA, et al. Orphanet J Rare Dis. 2014 Nov 30;9:184. doi: 10.1186/s13023-014-0184-7. Orphanet J Rare Dis. 2014. PMID: 25928624 Free PMC article. Review.
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.
Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers.
Thomas-Black G, Altmann DR, Crook H, Solanky N, Carrasco FP, Battiston M, Grussu F, Yiannakas MC, Kanber B, Jolly JK, Brett J, Downes SM, Moran M, Chan PK, Adewunmi E, Gandini Wheeler-Kingshott CAM, Németh AH, Festenstein R, Bremner F, Giunti P. Thomas-Black G, et al. Among authors: giunti p. Mov Disord. 2023 Jun;38(6):959-969. doi: 10.1002/mds.29277. Epub 2022 Nov 25. Mov Disord. 2023. PMID: 36433650
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. 2023 Mar 31:10.1007/s12311-023-01546-0. doi: 10.1007/s12311-023-01546-0. Online ahead of print. Cerebellum. 2023. PMID: 37002505
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: giunti p. 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.
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Quartesan I, Vegezzi E, Currò R, Heslegrave A, Pisciotta C, Iruzubieta P, Salvalaggio A, Fernández-Eulate G, Dominik N, Rugginini B, Manini A, Abati E, Facchini S, Manso K, Albajar I, Laban R, Rossor AM, Pichiecchio A, Cosentino G, Saveri P, Salsano E, Andreetta F, Valente EM, Zetterberg H, Giunti P, Stojkovic T, Briani C, López de Munain A, Pareyson D, Reilly MM, Houlden H, Tassorelli C, Cortese A. Quartesan I, et al. Among authors: giunti p. Mov Disord. 2024 Jan;39(1):209-214. doi: 10.1002/mds.29680. Epub 2023 Dec 6. Mov Disord. 2024. PMID: 38054570 Free PMC article.
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study.
Indelicato E, Reetz K, Maier S, Nachbauer W, Amprosi M, Giunti P, Mariotti C, Durr A, de Rivera Garrido FJR, Klopstock T, Schöls L, Klockgether T, Bürk K, Pandolfo M, Didszun C, Grobe-Einsler M, Nanetti L, Nenning L, Kiechl S, Dichtl W, Ulmer H, Schulz JB, Boesch S; European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Indelicato E, et al. Among authors: giunti p. Mov Disord. 2024 Mar;39(3):510-518. doi: 10.1002/mds.29687. Epub 2023 Dec 23. Mov Disord. 2024. PMID: 38140802
207 results