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2015 1
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2024 11

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Page 1
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: indelicato e. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
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. 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.
Body Mass Index and Height in Friedreich Ataxia: What Do We Know?
Boesch SM, Indelicato E. Boesch SM, et al. Among authors: indelicato e. Neurol Genet. 2021 Nov 12;7(6):e637. doi: 10.1212/NXG.0000000000000637. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34786479 Free PMC article. No abstract available.
Approval of omaveloxolone for Friedreich ataxia.
Boesch S, Indelicato E. Boesch S, et al. Among authors: indelicato e. Nat Rev Neurol. 2024 Apr 3. doi: 10.1038/s41582-024-00957-9. Online ahead of print. Nat Rev Neurol. 2024. PMID: 38570703 No abstract available.
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. Hum Mol Genet. 2023 Jun 19;32(13):2241-2250. doi: 10.1093/hmg/ddad051. Hum Mol Genet. 2023. PMID: 37027192 Free PMC article.
Erythropoietin and Friedreich Ataxia: Time for a Reappraisal?
Boesch S, Indelicato E. Boesch S, et al. Among authors: indelicato e. Front Neurosci. 2019 Apr 24;13:386. doi: 10.3389/fnins.2019.00386. eCollection 2019. Front Neurosci. 2019. PMID: 31105516 Free PMC article. Review.
SYNE1-ataxia: Novel genotypic and phenotypic findings.
Indelicato E, Nachbauer W, Fauth C, Krabichler B, Schossig A, Eigentler A, Dichtl W, Wenning G, Wagner M, Fanciulli A, Janecke A, Boesch S. Indelicato E, et al. Parkinsonism Relat Disord. 2019 May;62:210-214. doi: 10.1016/j.parkreldis.2018.12.007. Epub 2018 Dec 11. Parkinsonism Relat Disord. 2019. PMID: 30573412
43 results