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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.
Intraepidermal Nerve Fiber Density in Friedreich's Ataxia.
Indelicato E, Nachbauer W, Eigentler A, Rudzki D, Wanschitz J, Boesch S. Indelicato E, et al. J Neuropathol Exp Neurol. 2018 Dec 1;77(12):1137-1143. doi: 10.1093/jnen/nly100. J Neuropathol Exp Neurol. 2018. PMID: 30358880
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.
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. 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.
Familial writer's cramp: a clinical clue for inherited coenzyme Q10 deficiency.
Amprosi M, Zech M, Steiger R, Nachbauer W, Eigentler A, Gizewski ER, Guger M, Indelicato E, Boesch S. Amprosi M, et al. Among authors: indelicato e. Neurogenetics. 2021 Mar;22(1):81-86. doi: 10.1007/s10048-020-00624-3. Epub 2020 Aug 24. Neurogenetics. 2021. PMID: 32830305 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. 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.
51 results