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201 results

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Page 1
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
Porcu L, Fichera M, Nanetti L, Rulli E, Giunti P, Parkinson MH, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Indelicato E, Klopstock T, Stendel C, Rodríguez de Rivera FJ, Schöls L, Fleszar Z, Giordano I, Didszun C, Castaldo A, Rai M, Klockgether T, Pandolfo M, Schulz JB, Reetz K, Mariotti C; EFACTS Study Group. Porcu L, et al. Among authors: fichera m. Ann Clin Transl Neurol. 2023 Nov;10(11):2000-2012. doi: 10.1002/acn3.51886. Epub 2023 Aug 28. Ann Clin Transl Neurol. 2023. PMID: 37641437 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.
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
Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1.
Quatrana A, Morini E, Tiano F, Vancheri C, Panarello L, Romano S, Marcotulli C, Casali C, Mariotti C, Mongelli A, Fichera M, Rufini A, Condò I, Novelli G, Testi R, Amati F, Malisan F. Quatrana A, et al. Among authors: fichera m. Hum Mol Genet. 2022 Jun 22;31(12):2010-2022. doi: 10.1093/hmg/ddac005. Hum Mol Genet. 2022. PMID: 35015850
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.
Nanetti L, Di Bella D, Magri S, Fichera M, Sarto E, Castaldo A, Mongelli A, Baratta S, Fenu S, Moscatelli M, Bonati MT, Martinuzzi A, Mariotti C, Taroni F. Nanetti L, et al. Among authors: fichera m. Front Neurol. 2022 Jan 6;12:793547. doi: 10.3389/fneur.2021.793547. eCollection 2021. Front Neurol. 2022. PMID: 35069422 Free PMC article.
Prediction of the disease course in Friedreich ataxia.
Hohenfeld C, Terstiege U, Dogan I, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Fichera M, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Rauhut H, Schulz JB, Reetz K. Hohenfeld C, et al. Among authors: fichera m. Sci Rep. 2022 Nov 10;12(1):19173. doi: 10.1038/s41598-022-23666-z. Sci Rep. 2022. PMID: 36357508 Free PMC article.
201 results