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Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich's ataxia.
Indelicato E, Kirchmair A, Amprosi M, Steixner S, Nachbauer W, Eigentler A, Wahl N, Apostolova G, Krogsdam A, Schneider R, Wanschitz J, Trajanoski Z, Boesch S. Indelicato E, et al. Among authors: amprosi m. Hum Mol Genet. 2023 Jun 19;32(13):2241-2250. doi: 10.1093/hmg/ddad051. Hum Mol Genet. 2023. PMID: 37027192 Free PMC article.
Onset features and time to diagnosis in Friedreich's Ataxia.
Indelicato E, Nachbauer W, Eigentler A, Amprosi M, Matteucci Gothe R, Giunti P, Mariotti C, Arpa J, Durr A, Klopstock T, Schöls L, Giordano I, Bürk K, Pandolfo M, Didszdun C, Schulz JB, Boesch S; EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies). Indelicato E, et al. Among authors: amprosi m. Orphanet J Rare Dis. 2020 Aug 3;15(1):198. doi: 10.1186/s13023-020-01475-9. Orphanet J Rare Dis. 2020. PMID: 32746884 Free PMC article.
Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA).
Reetz K, Hilgers RD, Isfort S, Dohmen M, Didszun C, Fedosov K, Kistermann J, Mariotti C, Durr A, Boesch S, Klopstock T, Rodríguez de Rivera Garrido FJ, Schöls L, Klockgether T, Pandolfo M, Korinthenberg R, Lavin P, Molenberghs G, Libri V, Giunti P, Festenstein R, Schulz JB; EFACTS or NICOFA study group. Reetz K, et al. Neurol Res Pract. 2019 Oct 15;1:33. doi: 10.1186/s42466-019-0038-9. eCollection 2019. Neurol Res Pract. 2019. PMID: 33324899 Free PMC article. Clinical Trial.
The electrophysiological footprint of CACNA1A disorders.
Indelicato E, Unterberger I, Nachbauer W, Eigentler A, Amprosi M, Zeiner F, Haberlandt E, Kaml M, Gizewski E, Boesch S. Indelicato E, et al. Among authors: amprosi m. J Neurol. 2021 Jul;268(7):2493-2505. doi: 10.1007/s00415-021-10415-x. Epub 2021 Feb 5. J Neurol. 2021. PMID: 33544220 Free PMC article. Review.
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.
Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB; EFACTS study group. Reetz K, et al. Lancet Neurol. 2021 May;20(5):362-372. doi: 10.1016/S1474-4422(21)00027-2. Epub 2021 Mar 23. Lancet Neurol. 2021. PMID: 33770527
Instrumented gait analysis defines the walking signature of CACNA1A disorders.
Indelicato E, Raccagni C, Runer S, Hannink J, Nachbauer W, Eigentler A, Amprosi M, Wenning G, Boesch S. Indelicato E, et al. Among authors: amprosi m. J Neurol. 2022 Jun;269(6):2941-2947. doi: 10.1007/s00415-021-10878-y. Epub 2021 Nov 9. J Neurol. 2022. PMID: 34755206 Free PMC article.
Mast Syndrome Outside the Amish Community: SPG21 in Europe.
Amprosi M, Indelicato E, Nachbauer W, Hussl A, Stendel C, Eigentler A, Gallenmüller C, Boesch S, Klopstock T. Amprosi M, et al. Front Neurol. 2022 Jan 17;12:799953. doi: 10.3389/fneur.2021.799953. eCollection 2021. Front Neurol. 2022. PMID: 35111129 Free PMC article.
23 results