Lynch DR - Search Results

1

Targeting 3' and 5' untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression.

Li Y, Li J, Wang J, Lynch DR, Shen X, Corey DR, Parekh D, Bhat B, Woo C, Cherry JJ, Napierala JS, Napierala M. Li Y, et al. Among authors: lynch dr. Nucleic Acids Res. 2021 Nov 18;49(20):11560-11574. doi: 10.1093/nar/gkab954. Nucleic Acids Res. 2021. PMID: 34718736 Free PMC article.

2

Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.

McCormack ML, Guttmann RP, Schumann M, Farmer JM, Stolle CA, Campuzano V, Koenig M, Lynch DR. McCormack ML, et al. Among authors: lynch dr. J Neurol Neurosurg Psychiatry. 2000 May;68(5):661-4. doi: 10.1136/jnnp.68.5.661. J Neurol Neurosurg Psychiatry. 2000. PMID: 10766903 Free PMC article.

3

A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.

Deutsch EC, Santani AB, Perlman SL, Farmer JM, Stolle CA, Marusich MF, Lynch DR. Deutsch EC, et al. Among authors: lynch dr. Mol Genet Metab. 2010 Oct-Nov;101(2-3):238-45. doi: 10.1016/j.ymgme.2010.07.001. Epub 2010 Jul 8. Mol Genet Metab. 2010. PMID: 20675166 Free PMC article.

4

Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function.

Selak MA, Lyver E, Micklow E, Deutsch EC, Onder O, Selamoglu N, Yager C, Knight S, Carroll M, Daldal F, Dancis A, Lynch DR, Sarry JE. Selak MA, et al. Among authors: lynch dr. Mitochondrion. 2011 Mar;11(2):342-50. doi: 10.1016/j.mito.2010.12.003. Epub 2010 Dec 13. Mitochondrion. 2011. PMID: 21147271 Free PMC article.

5

Novel diagnostic paradigms for Friedreich ataxia.

Brigatti KW, Deutsch EC, Lynch DR, Farmer JM. Brigatti KW, et al. Among authors: lynch dr. J Child Neurol. 2012 Sep;27(9):1146-51. doi: 10.1177/0883073812448440. Epub 2012 Jun 29. J Child Neurol. 2012. PMID: 22752491 Free PMC article. Review.

6

Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia.

Deutsch EC, Oglesbee D, Greeley NR, Lynch DR. Deutsch EC, et al. Among authors: lynch dr. J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):994-1002. doi: 10.1136/jnnp-2013-306788. Epub 2014 Jan 24. J Neurol Neurosurg Psychiatry. 2014. PMID: 24463479

7

Therapeutic approaches for the treatment of Friedreich's ataxia.

Strawser CJ, Schadt KA, Lynch DR. Strawser CJ, et al. Among authors: lynch dr. Expert Rev Neurother. 2014 Aug;14(8):949-57. doi: 10.1586/14737175.2014.939173. Epub 2014 Jul 18. Expert Rev Neurother. 2014. PMID: 25034024

8

Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.

Li Y, Polak U, Bhalla AD, Rozwadowska N, Butler JS, Lynch DR, Dent SYR, Napierala M. Li Y, et al. Among authors: lynch dr. Mol Ther. 2015 Jun;23(6):1055-1065. doi: 10.1038/mt.2015.41. Epub 2015 Mar 11. Mol Ther. 2015. PMID: 25758173 Free PMC article.

9

Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.

Li Y, Lu Y, Polak U, Lin K, Shen J, Farmer J, Seyer L, Bhalla AD, Rozwadowska N, Lynch DR, Butler JS, Napierala M. Li Y, et al. Among authors: lynch dr. Hum Mol Genet. 2015 Dec 15;24(24):6932-43. doi: 10.1093/hmg/ddv397. Epub 2015 Sep 23. Hum Mol Genet. 2015. PMID: 26401053 Free PMC article.

10

Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example.

Li Y, Polak U, Clark AD, Bhalla AD, Chen YY, Li J, Farmer J, Seyer L, Lynch D, Butler JS, Napierala M. Li Y, et al. Biopreserv Biobank. 2016 Aug;14(4):324-9. doi: 10.1089/bio.2015.0117. Epub 2016 Mar 22. Biopreserv Biobank. 2016. PMID: 27002638 Free PMC article.

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