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1993 1
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474 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. Among authors: delatycki mb. 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.
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF; SPARK Consortium; Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE. Wang T, et al. Among authors: delatycki m. Nat Commun. 2020 Oct 1;11(1):4932. doi: 10.1038/s41467-020-18723-y. Nat Commun. 2020. PMID: 33004838 Free PMC article.
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Stessman HA, et al. Among authors: delatycki mb. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191889 Free PMC article.
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. Among authors: delatycki mb. Mov Disord. 2023 Feb;38(2):313-320. doi: 10.1002/mds.29286. Epub 2022 Nov 29. Mov Disord. 2023. PMID: 36444905 Clinical Trial.
Friedreich Ataxia.
Bidichandani SI, Delatycki MB, Napierala M, Duquette A. Bidichandani SI, et al. Among authors: delatycki mb. 1998 Dec 18 [updated 2024 Oct 31]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1998 Dec 18 [updated 2024 Oct 31]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301458 Free Books & Documents. Review.
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. Among authors: delatycki mb. 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.
Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia.
Milne SC, Corben LA, Roberts M, Szmulewicz D, Burns J, Grobler AC, Williams S, Chua J, Liang C, Lamont PJ, Grootendorst AC, Massey L, Sue C, Dalziel K, LaGrappe D, Willis L, Freijah A, Gerken P, Delatycki MB. Milne SC, et al. Among authors: delatycki mb. BMJ Open. 2020 Dec 17;10(12):e040230. doi: 10.1136/bmjopen-2020-040230. BMJ Open. 2020. PMID: 33334834 Free PMC article.
Recommendations for the predictive genetic test in Huntington's disease.
MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. MacLeod R, et al. Clin Genet. 2013 Mar;83(3):221-31. doi: 10.1111/j.1399-0004.2012.01900.x. Epub 2012 Jul 30. Clin Genet. 2013. PMID: 22642570 No abstract available.
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. Among authors: delatycki mb. 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.
474 results