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Connection

David Lynch to Friedreich Ataxia

This is a "connection" page, showing publications David Lynch has written about Friedreich Ataxia.

 
Connection Strength
  
 
 
22.356
  
  1. Mercado-Ayón E, Talgo E, Flatley L, Coulman J, Lynch DR. Neurochemical alterations in the cerebellum of Friedreich's Ataxia mouse models. Exp Neurol. 2025 Apr; 386:115176.
    View in: PubMed
    Score: 0.843
  2. Lynch DR, Sharma S, Hearle P, Greeley N, Gunther K, Keita M, Strawser C, Hauser L, Park C, Schadt K, Lin KY. Characterization of clinical serum cardiac biomarker levels in individuals with Friedreich ataxia. J Neurol Sci. 2024 06 15; 461:123053.
    View in: PubMed
    Score: 0.802
  3. Lynch DR, Subramony S, Lin KY, Mathews K, Perlman S, Yoon G, Rummey C. Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia. Pediatr Cardiol. 2025 Feb; 46(2):379-382.
    View in: PubMed
    Score: 0.790
  4. Shen MM, Rummey C, Lynch DR. Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort. Ann Clin Transl Neurol. 2024 May; 11(5):1110-1121.
    View in: PubMed
    Score: 0.789
  5. Lynch DR, Rojsajjakul T, Subramony SH, Perlman SL, Keita M, Mesaros C, Blair IA. Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort. J Neurol. 2024 Apr; 271(4):1844-1849.
    View in: PubMed
    Score: 0.778
  6. Rodden LN, Rummey C, Kessler S, Wilson RB, Lynch DR. A Novel Metric for Predicting Severity of Disease Features in Friedreich's Ataxia. Mov Disord. 2023 06; 38(6):970-977.
    View in: PubMed
    Score: 0.739
  7. Profeta V, McIntyre K, Wells M, Park C, Lynch DR. Omaveloxolone: an activator of Nrf2 for the treatment of Friedreich ataxia. Expert Opin Investig Drugs. 2023 Jan; 32(1):5-16.
    View in: PubMed
    Score: 0.734
  8. Lynch DR, Mathews KD, Perlman S, Zesiewicz T, Subramony S, Omidvar O, Vogel AP, Krtolica A, Litterman N, van der Ploeg L, Heerinckx F, Milner P, Midei M. Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia. J Neurol. 2023 Mar; 270(3):1615-1623.
    View in: PubMed
    Score: 0.725
  9. Keita M, McIntyre K, Rodden LN, Schadt K, Lynch DR. Friedreich ataxia: clinical features and new developments. Neurodegener Dis Manag. 2022 10; 12(5):267-283.
    View in: PubMed
    Score: 0.704
  10. Afsharian P, Nolan-Kenney R, Lynch AE, Balcer LJ, Lynch DR. Correlation of Visual Quality of Life With Clinical and Visual Status in Friedreich Ataxia. J Neuroophthalmol. 2020 06; 40(2):213-217.
    View in: PubMed
    Score: 0.610
  11. Clay A, Obrochta KM, Soon RK, Russell CB, Lynch DR. Neurofilament light chain as a potential biomarker of disease status in Friedreich ataxia. J Neurol. 2020 Sep; 267(9):2594-2598.
    View in: PubMed
    Score: 0.607
  12. Xiong E, Lynch AE, Corben LA, Delatycki MB, Subramony SH, Bushara K, Gomez CM, Hoyle JC, Yoon G, Ravina B, Mathews KD, Wilmot G, Zesiewicz T, Susan Perlman M, Farmer JM, Rummey C, Lynch DR. Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort. J Neurol Sci. 2020 Mar 15; 410:116642.
    View in: PubMed
    Score: 0.591
  13. Lynch DR, Hauser L, McCormick A, Wells M, Dong YN, McCormack S, Schadt K, Perlman S, Subramony SH, Mathews KD, Brocht A, Ball J, Perdok R, Grahn A, Vescio T, Sherman JW, Farmer JM. Randomized, double-blind, placebo-controlled study of interferon-? 1b in Friedreich Ataxia. Ann Clin Transl Neurol. 2019 03; 6(3):546-553.
    View in: PubMed
    Score: 0.559
  14. 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. Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia. Ann Clin Transl Neurol. 2019 01; 6(1):15-26.
    View in: PubMed
    Score: 0.547
  15. McCormick A, Shinnick J, Schadt K, Rodriguez R, Addonizio L, Hirano M, Perlman S, Lin KY, Lynch DR. Cardiac transplantation in Friedreich Ataxia: Extended follow-up. J Neurol Sci. 2017 Apr 15; 375:471-473.
    View in: PubMed
    Score: 0.482
  16. Lynch DR, Kichula E. Challenges ahead for trials in Friedreich's ataxia. Lancet Neurol. 2016 12; 15(13):1300-1301.
    View in: PubMed
    Score: 0.478
  17. Isaacs CJ, Brigatti KW, Kucheruk O, Ratcliffe S, Sciascia T, McCormack SE, Willi SM, Lynch DR. Effects of genetic severity on glucose homeostasis in Friedreich ataxia. Muscle Nerve. 2016 11; 54(5):887-894.
    View in: PubMed
    Score: 0.470
  18. Lynch DR, Perlman SL. Friedreich's ataxia: the European consortium. Lancet Neurol. 2015 Feb; 14(2):130-1.
    View in: PubMed
    Score: 0.419
  19. Lynch DR, Seyer L. Friedreich ataxia: new findings, new challenges. Ann Neurol. 2014 Oct; 76(4):487-8.
    View in: PubMed
    Score: 0.410
  20. Strawser CJ, Schadt KA, Lynch DR. Therapeutic approaches for the treatment of Friedreich's ataxia. Expert Rev Neurother. 2014 Aug; 14(8):949-57.
    View in: PubMed
    Score: 0.406
  21. Greeley NR, Regner S, Willi S, Lynch DR. Cross-sectional analysis of glucose metabolism in Friedreich ataxia. J Neurol Sci. 2014 Jul 15; 342(1-2):29-35.
    View in: PubMed
    Score: 0.399
  22. Deutsch EC, Oglesbee D, Greeley NR, Lynch DR. Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia. J Neurol Neurosurg Psychiatry. 2014 Sep; 85(9):994-1002.
    View in: PubMed
    Score: 0.392
  23. St John Sutton M, Ky B, Regner SR, Schadt K, Plappert T, He J, D'Souza B, Lynch DR. Longitudinal strain in Friedreich Ataxia: a potential marker for early left ventricular dysfunction. Echocardiography. 2014; 31(1):50-7.
    View in: PubMed
    Score: 0.378
  24. Seyer LA, Galetta K, Wilson J, Sakai R, Perlman S, Mathews K, Wilmot GR, Gomez CM, Ravina B, Zesiewicz T, Bushara KO, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Balcer LJ, Lynch DR. Analysis of the visual system in Friedreich ataxia. J Neurol. 2013 Sep; 260(9):2362-9.
    View in: PubMed
    Score: 0.376
  25. Lynch DR, Deutsch EC, Wilson RB, Tennekoon G. Unanswered questions in Friedreich ataxia. J Child Neurol. 2012 Sep; 27(9):1223-9.
    View in: PubMed
    Score: 0.354
  26. Deutsch EC, Seyer LA, Perlman SL, Yu J, Lynch DR. Clinical monitoring in a patient with Friedreich ataxia and osteogenic sarcoma. J Child Neurol. 2012 Sep; 27(9):1159-63.
    View in: PubMed
    Score: 0.352
  27. Regner SR, Wilcox NS, Friedman LS, Seyer LA, Schadt KA, Brigatti KW, Perlman S, Delatycki M, Wilmot GR, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Ravina B, Brocht A, Farmer JM, Lynch DR. Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants. J Child Neurol. 2012 Sep; 27(9):1152-8.
    View in: PubMed
    Score: 0.352
  28. Friedman LS, Schadt KA, Regner SR, Mark GE, Lin KY, Sciascia T, St John Sutton M, Willi S, Lynch DR. Elevation of serum cardiac troponin I in a cross-sectional cohort of asymptomatic subjects with Friedreich ataxia. Int J Cardiol. 2013 Aug 20; 167(4):1622-4.
    View in: PubMed
    Score: 0.350
  29. Regner SR, Lagedrost SJ, Plappert T, Paulsen EK, Friedman LS, Snyder ML, Perlman SL, Mathews KD, Wilmot GR, Schadt KA, Sutton MS, Lynch DR. Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia. Am J Cardiol. 2012 Feb 01; 109(3):401-5.
    View in: PubMed
    Score: 0.337
  30. Meier T, Perlman SL, Rummey C, Coppard NJ, Lynch DR. Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study. J Neurol. 2012 Feb; 259(2):284-91.
    View in: PubMed
    Score: 0.330
  31. Tsou AY, Paulsen EK, Lagedrost SJ, Perlman SL, Mathews KD, Wilmot GR, Ravina B, Koeppen AH, Lynch DR. Mortality in Friedreich ataxia. J Neurol Sci. 2011 Aug 15; 307(1-2):46-9.
    View in: PubMed
    Score: 0.327
  32. Lynch DR, Perlman SL, Meier T. A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia. Arch Neurol. 2010 Aug; 67(8):941-7.
    View in: PubMed
    Score: 0.308
  33. Deutsch EC, Santani AB, Perlman SL, Farmer JM, Stolle CA, Marusich MF, Lynch DR. A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. Mol Genet Metab. 2010 Oct-Nov; 101(2-3):238-45.
    View in: PubMed
    Score: 0.307
  34. Friedman LS, Paulsen EK, Schadt KA, Brigatti KW, Driscoll DA, Farmer JM, Lynch DR. Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications. Am J Obstet Gynecol. 2010 Sep; 203(3):224.e1-5.
    View in: PubMed
    Score: 0.304
  35. Paulsen EK, Friedman LS, Myers LM, Lynch DR. Health-related quality of life in children with Friedreich ataxia. Pediatr Neurol. 2010 May; 42(5):335-7.
    View in: PubMed
    Score: 0.303
  36. Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR. Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord. 2010 Mar 15; 25(4):426-32.
    View in: PubMed
    Score: 0.300
  37. Singh A, Epstein E, Myers LM, Farmer JM, Lynch DR. Clinical measures of dysarthria in Friedreich Ataxia. Mov Disord. 2010 Jan 15; 25(1):108-11.
    View in: PubMed
    Score: 0.297
  38. Tsou AY, Friedman LS, Wilson RB, Lynch DR. Pharmacotherapy for Friedreich ataxia. CNS Drugs. 2009; 23(3):213-23.
    View in: PubMed
    Score: 0.276
  39. Stolle CA, Frackelton EC, McCallum J, Farmer JM, Tsou A, Wilson RB, Lynch DR. Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia. Mov Disord. 2008 Jul 15; 23(9):1303-6.
    View in: PubMed
    Score: 0.268
  40. O'Brien EM, Neiswinter N, Lin KY, Lynch D, Baldwin K, Profeta V, Flynn JM, Muhly WT. Perioperative management and outcomes for posterior spinal fusion in patients with Friedreich ataxia: A single-center, retrospective study. Paediatr Anaesth. 2024 07; 34(7):654-661.
    View in: PubMed
    Score: 0.200
  41. Cilenti NA, Tamaroff JG, Capiola CJ, Faig W, McBride MG, Paridon SM, O'Malley S, Edelson JB, Lynch DR, McCormack SE, Lin KY. Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich ataxia. Muscle Nerve. 2024 May; 69(5):613-619.
    View in: PubMed
    Score: 0.198
  42. Seabury J, Alexandrou D, Dilek N, Cohen B, Heatwole J, Larkindale J, Lynch DR, Park C, Rosero S, Subramony SH, Varma A, Wagner E, Walther S, Weinstein J, Wells M, Zizzi C, Heatwole C. Patient-Reported Impact of Symptoms in Friedreich Ataxia. Neurology. 2023 02 21; 100(8):e808-e821.
    View in: PubMed
    Score: 0.181
  43. Wang D, Ho ES, Cotticelli MG, Xu P, Napierala JS, Hauser LA, Napierala M, Himes BE, Wilson RB, Lynch DR, Mesaros C. Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia. J Lipid Res. 2022 09; 63(9):100255.
    View in: PubMed
    Score: 0.177
  44. Thomas-Black G, Dumitrascu A, Garcia-Moreno H, Vallortigara J, Greenfield J, Hunt B, Walther S, Wells M, Lynch DR, Montgomery H, Giunti P. The attitude of patients with progressive ataxias towards clinical trials. Orphanet J Rare Dis. 2022 01 04; 17(1):1.
    View in: PubMed
    Score: 0.170
  45. Li Y, Li J, Wang J, Lynch DR, Shen X, Corey DR, Parekh D, Bhat B, Woo C, Cherry JJ, Napierala JS, Napierala M. Targeting 3' and 5' untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression. Nucleic Acids Res. 2021 11 18; 49(20):11560-11574.
    View in: PubMed
    Score: 0.169
  46. Napierala JS, Rajapakshe K, Clark A, Chen YY, Huang S, Mesaros C, Xu P, Blair IA, Hauser LA, Farmer J, Lynch DR, Edwards DP, Coarfa C, Napierala M. Reverse Phase Protein Array Reveals Correlation of Retinoic Acid Metabolism With Cardiomyopathy in Friedreich's Ataxia. Mol Cell Proteomics. 2021; 20:100094.
    View in: PubMed
    Score: 0.163
  47. Weng L, Laboureur L, Wang Q, Guo L, Xu P, Gottlieb L, Lynch DR, Mesaros C, Blair IA. Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia. Sci Rep. 2020 09 25; 10(1):15788.
    View in: PubMed
    Score: 0.156
  48. Marty B, Naeije G, Bourguignon M, Wens V, Jousmäki V, Lynch DR, Gaetz W, Goldman S, Hari R, Pandolfo M, De Tiège X. Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia. Neurology. 2019 07 09; 93(2):e116-e124.
    View in: PubMed
    Score: 0.142
  49. Nachun D, Gao F, Isaacs C, Strawser C, Yang Z, Dokuru D, Van Berlo V, Sears R, Farmer J, Perlman S, Lynch DR, Coppola G. Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. Hum Mol Genet. 2018 09 01; 27(17):2965-2977.
    View in: PubMed
    Score: 0.135
  50. Ejaz R, Chen S, Isaacs CJ, Carnevale A, Wilson J, George K, Delatycki MB, Perlman SL, Mathews KD, Wilmot GR, Hoyle JC, Subramony SH, Zesiewicz T, Farmer JM, Lynch DR, Yoon G. Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia. J Child Neurol. 2018 05; 33(6):397-404.
    View in: PubMed
    Score: 0.131
  51. Wang Q, Guo L, Strawser CJ, Hauser LA, Hwang WT, Snyder NW, Lynch DR, Mesaros C, Blair IA. Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy. PLoS One. 2018; 13(2):e0192779.
    View in: PubMed
    Score: 0.130
  52. Guo L, Wang Q, Weng L, Hauser LA, Strawser CJ, Rocha AG, Dancis A, Mesaros C, Lynch DR, Blair IA. Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia. Anal Chem. 2018 02 06; 90(3):2216-2223.
    View in: PubMed
    Score: 0.129
  53. Long A, Napierala JS, Polak U, Hauser L, Koeppen AH, Lynch DR, Napierala M. Somatic instability of the expanded GAA repeats in Friedreich's ataxia. PLoS One. 2017; 12(12):e0189990.
    View in: PubMed
    Score: 0.129
  54. Napierala JS, Li Y, Lu Y, Lin K, Hauser LA, Lynch DR, Napierala M. Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers. Dis Model Mech. 2017 11 01; 10(11):1353-1369.
    View in: PubMed
    Score: 0.127
  55. Li Y, Polak U, Clark AD, Bhalla AD, Chen YY, Li J, Farmer J, Seyer L, Lynch D, Butler JS, Napierala M. Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example. Biopreserv Biobank. 2016 Aug; 14(4):324-9.
    View in: PubMed
    Score: 0.114
  56. Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, Gurrin LC, Lynch DR, Gelbard S, Durr A, Pousset F, Parkinson M, Labrum R, Giunti P, Perlman SL, Delatycki MB, Evans-Galea MV. Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. Ann Neurol. 2016 Mar; 79(3):485-95.
    View in: PubMed
    Score: 0.113
  57. Li Y, Lu Y, Polak U, Lin K, Shen J, Farmer J, Seyer L, Bhalla AD, Rozwadowska N, Lynch DR, Butler JS, Napierala M. Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus. Hum Mol Genet. 2015 Dec 15; 24(24):6932-43.
    View in: PubMed
    Score: 0.110
  58. Li Y, Polak U, Bhalla AD, Rozwadowska N, Butler JS, Lynch DR, Dent SYR, Napierala M. Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia. Mol Ther. 2015 Jun; 23(6):1055-1065.
    View in: PubMed
    Score: 0.106
  59. Worth AJ, Basu SS, Deutsch EC, Hwang WT, Snyder NW, Lynch DR, Blair IA. Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets. Bioanalysis. 2015; 7(15):1843-55.
    View in: PubMed
    Score: 0.105
  60. Delatycki MB, Tai G, Corben L, Yiu EM, Evans-Galea MV, Stephenson SE, Gurrin L, Allen KJ, Lynch D, Lockhart PJ. HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia. Mov Disord. 2014 Jun; 29(7):940-3.
    View in: PubMed
    Score: 0.098
  61. Metz G, Coppard N, Cooper JM, Delatycki MB, Dürr A, Di Prospero NA, Giunti P, Lynch DR, Schulz JB, Rummey C, Meier T. Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database. Brain. 2013 Jan; 136(Pt 1):259-68.
    View in: PubMed
    Score: 0.091
  62. Mahishi LH, Hart RP, Lynch DR, Ratan RR. miR-886-3p levels are elevated in Friedreich ataxia. J Neurosci. 2012 Jul 04; 32(27):9369-73.
    View in: PubMed
    Score: 0.088
  63. Brigatti KW, Deutsch EC, Lynch DR, Farmer JM. Novel diagnostic paradigms for Friedreich ataxia. J Child Neurol. 2012 Sep; 27(9):1146-51.
    View in: PubMed
    Score: 0.088
  64. Evans-Galea MV, Carrodus N, Rowley SM, Corben LA, Tai G, Saffery R, Galati JC, Wong NC, Craig JM, Lynch DR, Regner SR, Brocht AF, Perlman SL, Bushara KO, Gomez CM, Wilmot GR, Li L, Varley E, Delatycki MB, Sarsero JP. FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Ann Neurol. 2012 Apr; 71(4):487-97.
    View in: PubMed
    Score: 0.087
  65. Snyder M, Seyer L, Lynch DR, Resnick A, Zesiewicz TA. Cardiac dysfunction exacerbated by endocrinopathies in Friedreich ataxia: a case series. J Child Neurol. 2012 Oct; 27(10):1316-9.
    View in: PubMed
    Score: 0.086
  66. 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. Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function. Mitochondrion. 2011 Mar; 11(2):342-50.
    View in: PubMed
    Score: 0.079
  67. Babady NE, Carelle N, Wells RD, Rouault TA, Hirano M, Lynch DR, Delatycki MB, Wilson RB, Isaya G, Puccio H. Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments. Mol Genet Metab. 2007 Sep-Oct; 92(1-2):23-35.
    View in: PubMed
    Score: 0.062
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

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