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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1965 1
1966 1
1975 3
1976 2
1977 3
1978 6
1979 3
1980 9
1981 7
1982 7
1983 4
1984 12
1985 2
1986 6
1987 5
1988 4
1989 3
1990 8
1991 4
1992 3
1993 8
1994 9
1995 7
1996 5
1997 12
1998 8
1999 9
2000 18
2001 14
2002 17
2003 9
2004 21
2005 11
2006 10
2007 15
2008 24
2009 15
2010 22
2011 28
2012 30
2013 35
2014 30
2015 21
2016 25
2017 27
2018 23
2019 30
2020 27
2021 32
2022 25
2023 31
2024 14

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622 results

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Page 1
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
Lynch DR, Chin MP, Delatycki MB, Subramony SH, Corti M, Hoyle JC, Boesch S, Nachbauer W, Mariotti C, Mathews KD, Giunti P, Wilmot G, Zesiewicz T, Perlman S, Goldsberry A, O'Grady M, Meyer CJ. Lynch DR, et al. Ann Neurol. 2021 Feb;89(2):212-225. doi: 10.1002/ana.25934. Epub 2020 Nov 5. Ann Neurol. 2021. PMID: 33068037 Free PMC article. Clinical Trial.
OBJECTIVE: Friedreich ataxia (FA) is a progressive genetic neurodegenerative disorder with no approved treatment. ...The primary outcome was change from baseline in the mFARS score in those treated with omaveloxolone compared with those on placebo at 48 weeks …
OBJECTIVE: Friedreich ataxia (FA) is a progressive genetic neurodegenerative disorder with no approved treatment. ...The prima …
The inherited cerebellar ataxias: an update.
Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M. Coarelli G, et al. J Neurol. 2023 Jan;270(1):208-222. doi: 10.1007/s00415-022-11383-6. Epub 2022 Sep 24. J Neurol. 2023. PMID: 36152050 Free PMC article. Review.
The challenge of NGS analysis is the identification of causative variant, trio analysis being usually the most appropriate option. Public genomic databases as well as pathogenicity prediction software facilitate the interpretation of NGS results. We also report on key clin …
The challenge of NGS analysis is the identification of causative variant, trio analysis being usually the most appropriate option. Public ge …
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. Mov Disord. 2023 Feb;38(2):313-320. doi: 10.1002/mds.29286. Epub 2022 Nov 29. Mov Disord. 2023. PMID: 36444905 Clinical Trial.
OBJECTIVE: The delayed-start study compared mFARS scores at the end of MOXIe part 2 with those at 72 weeks in the open-label extension period (up to 144 weeks) for patients initially randomized to omaveloxolone versus those initially randomized to placebo. ...RESULTS: The …
OBJECTIVE: The delayed-start study compared mFARS scores at the end of MOXIe part 2 with those at 72 weeks in the open-label extensio …
Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.
Lynch DR, Farmer J, Hauser L, Blair IA, Wang QQ, Mesaros C, Snyder N, Boesch S, Chin M, Delatycki MB, Giunti P, Goldsberry A, Hoyle C, McBride MG, Nachbauer W, O'Grady M, Perlman S, Subramony SH, Wilmot GR, Zesiewicz T, Meyer C. Lynch DR, et al. Ann Clin Transl Neurol. 2018 Nov 10;6(1):15-26. doi: 10.1002/acn3.660. eCollection 2019 Jan. Ann Clin Transl Neurol. 2018. PMID: 30656180 Free PMC article. Clinical Trial.
The dose-ranging portion of this Phase 2 study assessed the safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia patients (NCT02255435). METHODS: Sixty-nine Friedreich ataxia patients were randomized 3:1 to either omave …
The dose-ranging portion of this Phase 2 study assessed the safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreic …
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.
BACKGROUND: Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. ...Evidence profiles in tandem with feedback from individuals living with FRDA, natural history registry data and expert clinical observations con …
BACKGROUND: Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. ...Evidence p …
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. 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.
OBJECTIVE: The natural history of Friedreich ataxia is being investigated in a multi-center longitudinal study designated the Friedreich ataxia Clinical Outcome Measures Study (FACOMS). ...METHODS: MOXIe extension patients were matched to FACOMS patien …
OBJECTIVE: The natural history of Friedreich ataxia is being investigated in a multi-center longitudinal study designated the …
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. Sci Rep. 2022 Nov 10;12(1):19173. doi: 10.1038/s41598-022-23666-z. Sci Rep. 2022. PMID: 36357508 Free PMC article.
We explored whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations. From the database of the European Friedreich Ataxia Consortium for Translational Studies (EFACTS) data from up to five examinations …
We explored whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations. From …
Auditory neuropathy in mice and humans with Friedreich ataxia.
Rance G, Carew P, Winata L, Sale P, Delatycki M, Sly D. Rance G, et al. Ann Clin Transl Neurol. 2023 Jun;10(6):953-963. doi: 10.1002/acn3.51777. Epub 2023 Apr 14. Ann Clin Transl Neurol. 2023. PMID: 37060174 Free PMC article.
Eight were YG8Pook/J animals (Friedreich ataxia phenotype) and eight wild-type mice served as controls. ...In human participants, auditory steady-state response amplitudes were correlated with both Consonant-Nucleus-Consonant word scores and Friedreich …
Eight were YG8Pook/J animals (Friedreich ataxia phenotype) and eight wild-type mice served as controls. ...In human participan …
Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia.
Rodden LN, Chutake YK, Gilliam K, Lam C, Soragni E, Hauser L, Gilliam M, Wiley G, Anderson MP, Gottesfeld JM, Lynch DR, Bidichandani SI. Rodden LN, et al. Hum Mol Genet. 2021 Feb 4;29(23):3818-3829. doi: 10.1093/hmg/ddaa267. Hum Mol Genet. 2021. PMID: 33432325 Free PMC article.
Friedreich ataxia (FRDA) is typically caused by homozygosity for an expanded GAA triplet-repeat in intron 1 of the FXN gene, which results in transcriptional deficiency via epigenetic silencing. ...The hypermethylation of this differentially methylated region (FRDA- …
Friedreich ataxia (FRDA) is typically caused by homozygosity for an expanded GAA triplet-repeat in intron 1 of the FXN gene, w …
Rare cardiomyopathies: diagnostic features.
Novo G, Fazio G, Di Salvo G, Di Bella G, Zito C, Carità P, Centineo F, Toia P, Mancuso D, Castellano F, Carerj S, Novo S. Novo G, et al. Minerva Cardioangiol. 2013 Jun;61(3):351-65. Minerva Cardioangiol. 2013. PMID: 23681138 Review.
622 results