Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 231


New developments in pharmacotherapy for Friedreich ataxia.

Clay A, Hearle P, Schadt K, Lynch DR.

Expert Opin Pharmacother. 2019 Oct;20(15):1855-1867. doi: 10.1080/14656566.2019.1639671. Epub 2019 Jul 16.


The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meeting.

Blair IA, Farmer J, Hersch S, Larkindale J, Lynch DR, Napierala J, Napierala M, Payne RM, Subramony SH.

Future Sci OA. 2019 Jun 28;5(6):FSO398. doi: 10.2144/fsoa-2019-0026. Review.


Evaluation of antibodies for western blot analysis of frataxin protein isoforms.

Weng L, Wang Q, Yu S, Yang X, Lynch DR, Mesaros C, Blair IA.

J Immunol Methods. 2019 Nov;474:112629. doi: 10.1016/j.jim.2019.07.001. Epub 2019 Jul 4.


Open-label pilot study of oral methylprednisolone for the treatment of patients with friedreich ataxia.

Patel M, Schadt K, McCormick A, Isaacs C, Dong YN, Lynch DR.

Muscle Nerve. 2019 Nov;60(5):571-575. doi: 10.1002/mus.26610. Epub 2019 Jun 30.


Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia.

Marty B, Naeije G, Bourguignon M, Wens V, Jousmäki V, Lynch DR, Gaetz W, Goldman S, Hari R, Pandolfo M, De Tiège X.

Neurology. 2019 Jul 9;93(2):e116-e124. doi: 10.1212/WNL.0000000000007750. Epub 2019 Jun 13.


Identification of a novel missense mutation in Friedreich's ataxia -FXNW 168R.

Clark E, Strawser C, Schadt K, Lynch DR.

Ann Clin Transl Neurol. 2019 Feb 21;6(4):812-816. doi: 10.1002/acn3.728. eCollection 2019 Apr.


Randomized, double-blind, placebo-controlled study of interferon-γ 1b in Friedreich Ataxia.

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.

Ann Clin Transl Neurol. 2019 Feb 27;6(3):546-553. doi: 10.1002/acn3.731. eCollection 2019 Mar.


Capture and display of antibodies secreted by hybridoma cells enables fluorescent on-cell screening.

Puligedda RD, Sharma R, Al-Saleem FH, Kouiavskaia D, Velu AB, Kattala CD, Prendergast GC, Lynch DR, Chumakov K, Dessain SK.

MAbs. 2019 Apr;11(3):546-558. doi: 10.1080/19420862.2019.1574520. Epub 2019 Feb 22.


Correction to Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia.

Guo L, Wang Q, Weng L, Hauser LA, Strawser CJ, Rocha AG, Dancis A, Mesaros C, Lynch DR, Blair IA.

Anal Chem. 2019 Feb 5;91(3):2560. doi: 10.1021/acs.analchem.9b00141. Epub 2019 Jan 24. 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.

Ann Clin Transl Neurol. 2018 Nov 10;6(1):15-26. doi: 10.1002/acn3.660. eCollection 2019 Jan.


Etravirine in Friedreich's ataxia: Lessons from HIV?

Lynch DR, Schadt K, Kichula E.

Mov Disord. 2019 Mar;34(3):305-306. doi: 10.1002/mds.27605. Epub 2019 Jan 10. No abstract available.


GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.

Dong YN, McMillan E, Clark EM, Lin H, Lynch DR.

Hum Mol Genet. 2019 May 15;28(10):1594-1607. doi: 10.1093/hmg/ddy448.


Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes.

Guo L, Wang Q, Weng L, Hauser LA, Strawser CJ, Mesaros C, Lynch DR, Blair IA.

Sci Rep. 2018 Nov 19;8(1):17043. doi: 10.1038/s41598-018-35346-y.


Neuronal serine racemase associates with Disrupted-In-Schizophrenia-1 and DISC1 agglomerates: Implications for schizophrenia.

Jacobi AA, Halawani S, Lynch DR, Lin H.

Neurosci Lett. 2019 Jan 23;692:107-114. doi: 10.1016/j.neulet.2018.10.055. Epub 2018 Nov 1.


Monoclonal antibodies from a patient with anti-NMDA receptor encephalitis.

Sharma R, Al-Saleem FH, Panzer J, Lee J, Puligedda RD, Felicori LF, Kattala CD, Rattelle AJ, Ippolito G, Cox RH, Lynch DR, Dessain SK.

Ann Clin Transl Neurol. 2018 Jul 5;5(8):935-951. doi: 10.1002/acn3.592. eCollection 2018 Aug.


Frataxin Restoration in the Nervous System: Possibilities for Gene Therapy.

Lynch DR, Kichula E, Lin H.

Mol Ther. 2018 Aug 1;26(8):1880-1882. doi: 10.1016/j.ymthe.2018.06.006. Epub 2018 Jun 30. No abstract available.


Longitudinal analysis of contrast acuity in Friedreich ataxia.

Hamedani AG, Hauser LA, Perlman S, Mathews K, Wilmot GR, Zesiewicz T, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Lynch DR.

Neurol Genet. 2018 Jul 23;4(4):e250. doi: 10.1212/NXG.0000000000000250. eCollection 2018 Aug.


Double-blind, randomized and controlled trial of EPI-743 in Friedreich's ataxia.

Zesiewicz T, Salemi JL, Perlman S, Sullivan KL, Shaw JD, Huang Y, Isaacs C, Gooch C, Lynch DR, Klein MB.

Neurodegener Dis Manag. 2018 Aug;8(4):233-242. doi: 10.2217/nmt-2018-0013. Epub 2018 Jul 27.


Membrane-bound and soluble forms of an NMDA receptor extracellular domain retain epitopes targeted in auto-immune encephalitis.

Sharma R, Al-Saleem FH, Puligedda RD, Rattelle A, Lynch DR, Dessain SK.

BMC Biotechnol. 2018 Jun 27;18(1):41. doi: 10.1186/s12896-018-0450-1.


Definitions of peri-procedural myocardial infarction and the association with one-year mortality: Insights from CHAMPION trials.

Olivier CB, Sundaram V, Bhatt DL, Leonardi S, Lopes RD, Ding VY, Yang L, Stone GW, Steg PG, Gibson CM, Hamm CW, Price MJ, White HD, Desai M, Lynch DR Jr, Harrington RA, Mahaffey KW; CHAMPION PLATFORM and CHAMPION PCI Investigators.

Int J Cardiol. 2018 Nov 1;270:96-101. doi: 10.1016/j.ijcard.2018.06.034. Epub 2018 Jun 8.


Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients.

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.

Hum Mol Genet. 2018 Sep 1;27(17):2965-2977. doi: 10.1093/hmg/ddy198.


Pediatric Ataxia: Focus on Chronic Disorders.

Lynch DR, McCormick A, Schadt K, Kichula E.

Semin Pediatr Neurol. 2018 Apr;25:54-64. doi: 10.1016/j.spen.2018.01.001. Epub 2018 Jan 5. Review.


Anti-NMDA receptor encephalitis and nonencephalitic HSV-1 infection.

Salovin A, Glanzman J, Roslin K, Armangue T, Lynch DR, Panzer JA.

Neurol Neuroimmunol Neuroinflamm. 2018 Apr 5;5(4):e458. doi: 10.1212/NXI.0000000000000458. eCollection 2018 Jul.


Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.

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.

J Child Neurol. 2018 May;33(6):397-404. doi: 10.1177/0883073818764941. Epub 2018 Apr 2.


Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy.

Wang Q, Guo L, Strawser CJ, Hauser LA, Hwang WT, Snyder NW, Lynch DR, Mesaros C, Blair IA.

PLoS One. 2018 Feb 15;13(2):e0192779. doi: 10.1371/journal.pone.0192779. eCollection 2018.


Correction: Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia (doi: 10.1242/dmm.030502).

Lin H, Magrane J, Rattelle A, Stepanova A, Galkin A, Clark EM, Dong YN, Halawani SM, Lynch DR.

Dis Model Mech. 2018 Jan 29;11(1). pii: dmm033415. doi: 10.1242/dmm.033415. No abstract available.


Anti-NMDA Receptor Encephalitis: Clinical Features and Basic Mechanisms.

Lynch DR, Rattelle A, Dong YN, Roslin K, Gleichman AJ, Panzer JA.

Adv Pharmacol. 2018;82:235-260. doi: 10.1016/bs.apha.2017.08.005. Epub 2017 Nov 8. Review.


Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia.

Guo L, Wang Q, Weng L, Hauser LA, Strawser CJ, Rocha AG, Dancis A, Mesaros C, Lynch DR, Blair IA.

Anal Chem. 2018 Feb 6;90(3):2216-2223. doi: 10.1021/acs.analchem.7b04590. Epub 2018 Jan 11. Erratum in: Anal Chem. 2019 Feb 5;91(3):2560.


Somatic instability of the expanded GAA repeats in Friedreich's ataxia.

Long A, Napierala JS, Polak U, Hauser L, Koeppen AH, Lynch DR, Napierala M.

PLoS One. 2017 Dec 19;12(12):e0189990. doi: 10.1371/journal.pone.0189990. eCollection 2017.


Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia.

Lin H, Magrane J, Clark EM, Halawani SM, Warren N, Rattelle A, Lynch DR.

Dis Model Mech. 2017 Dec 19;10(12):1529-1538. doi: 10.1242/dmm.030049.


Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.

Napierala JS, Li Y, Lu Y, Lin K, Hauser LA, Lynch DR, Napierala M.

Dis Model Mech. 2017 Nov 1;10(11):1353-1369. doi: 10.1242/dmm.030536.


Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia.

Lin H, Magrane J, Rattelle A, Stepanova A, Galkin A, Clark EM, Dong YN, Halawani SM, Lynch DR.

Dis Model Mech. 2017 Nov 1;10(11):1343-1352. doi: 10.1242/dmm.030502. Erratum in: Dis Model Mech. 2018 Jan 29;11(1):.


Impact of diabetes in the Friedreich ataxia clinical outcome measures study.

McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, Yoon G, Hoyle C, Subramony SH, Zesiewicz T, Lynch DR, McCormack SE.

Ann Clin Transl Neurol. 2017 Jul 26;4(9):622-631. doi: 10.1002/acn3.439. eCollection 2017 Sep.


Selected missense mutations impair frataxin processing in Friedreich ataxia.

Clark E, Butler JS, Isaacs CJ, Napierala M, Lynch DR.

Ann Clin Transl Neurol. 2017 Jun 29;4(8):575-584. doi: 10.1002/acn3.433. eCollection 2017 Aug. Erratum in: Ann Clin Transl Neurol. 2017 Oct 10;4(10 ):764.


Pharmacological therapeutics in Friedreich ataxia: the present state.

Strawser C, Schadt K, Hauser L, McCormick A, Wells M, Larkindale J, Lin H, Lynch DR.

Expert Rev Neurother. 2017 Sep;17(9):895-907. doi: 10.1080/14737175.2017.1356721. Epub 2017 Jul 26. Review.


Cardiac transplantation in Friedreich Ataxia: Extended follow-up.

McCormick A, Shinnick J, Schadt K, Rodriguez R, Addonizio L, Hirano M, Perlman S, Lin KY, Lynch DR.

J Neurol Sci. 2017 Apr 15;375:471-473. doi: 10.1016/j.jns.2017.01.027. Epub 2017 Jan 10.


Challenges ahead for trials in Friedreich's ataxia.

Lynch DR, Kichula E.

Lancet Neurol. 2016 Dec;15(13):1300-1301. doi: 10.1016/S1474-4422(16)30281-2. No abstract available.


Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders.

DeBrosse C, Nanga RPR, Wilson N, D'Aquilla K, Elliott M, Hariharan H, Yan F, Wade K, Nguyen S, Worsley D, Parris-Skeete C, McCormick E, Xiao R, Cunningham ZZ, Fishbein L, Nathanson KL, Lynch DR, Stallings VA, Yudkoff M, Falk MJ, Reddy R, McCormack SE.

JCI Insight. 2016 Nov 3;1(18):e88207. doi: 10.1172/jci.insight.88207.


Corrigendum to "Antibodies to dendritic neuronal surface antigens in opsoclonus myoclonus ataxia syndrome" [J. Neuroimmunol. 286 (2015) 86-92].

Panzer JA, Anand R, Dalmau J, Lynch DR.

J Neuroimmunol. 2016 Nov 15;300:74. doi: 10.1016/j.jneuroim.2016.05.001. Epub 2016 Jun 4. No abstract available.


Effects of genetic severity on glucose homeostasis in Friedreich ataxia.

Isaacs CJ, Brigatti KW, Kucheruk O, Ratcliffe S, Sciascia T, McCormack SE, Willi SM, Lynch DR.

Muscle Nerve. 2016 Nov;54(5):887-894. doi: 10.1002/mus.25136. Epub 2016 Aug 30.


Progression of Friedreich ataxia: quantitative characterization over 5 years.

Patel M, Isaacs CJ, Seyer L, Brigatti K, Gelbard S, Strawser C, Foerster D, Shinnick J, Schadt K, Yiu EM, Delatycki MB, Perlman S, Wilmot GR, Zesiewicz T, Mathews K, Gomez CM, Yoon G, Subramony SH, Brocht A, Farmer J, Lynch DR.

Ann Clin Transl Neurol. 2016 Jul 25;3(9):684-94. doi: 10.1002/acn3.332. eCollection 2016 Sep.


Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia.

Bhalla AD, Khodadadi-Jamayran A, Li Y, Lynch DR, Napierala M.

Ann Clin Transl Neurol. 2016 Jun 14;3(7):523-36. doi: 10.1002/acn3.322. eCollection 2016 Jul.


Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.

Yang Y, Zhang L, Lynch DR, Lukas T, Ahmeti K, Sleiman PM, Ryan E, Schadt KA, Newman JH, Deng HX, Siddique N, Siddique T.

Neurol Genet. 2016 Mar 3;2(2):e60. doi: 10.1212/NXG.0000000000000060. eCollection 2016 Apr.


Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.

Shinnick JE, Schadt K, Strawser C, Wilcox N, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Yiu EM, Delatycki MB, Brocht AF, Farmer JM, Lynch DR.

J Child Neurol. 2016 Aug;31(9):1161-5. doi: 10.1177/0883073816643408. Epub 2016 Apr 12.


D-Serine and Serine Racemase Are Associated with PSD-95 and Glutamatergic Synapse Stability.

Lin H, Jacobi AA, Anderson SA, Lynch DR.

Front Cell Neurosci. 2016 Feb 25;10:34. doi: 10.3389/fncel.2016.00034. eCollection 2016.


Friedreich Ataxia and nephrotic syndrome: a series of two patients.

Shinnick JE, Isaacs CJ, Vivaldi S, Schadt K, Lynch DR.

BMC Neurol. 2016 Jan 12;16:3. doi: 10.1186/s12883-016-0526-2.


Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

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.

Ann Neurol. 2016 Mar;79(3):485-95. doi: 10.1002/ana.24595.


IFN-γ for Friedreich ataxia: present evidence.

Wells M, Seyer L, Schadt K, Lynch DR.

Neurodegener Dis Manag. 2015 Dec;5(6):497-504. doi: 10.2217/nmt.15.52. Epub 2015 Dec 4.


Evaluation of the F2R IVS-14A/T PAR1 polymorphism with subsequent cardiovascular events and bleeding in patients who have undergone percutaneous coronary intervention.

Friedman EA, Texeira L, Delaney J, Weeke PE, Lynch DR Jr, Kasasbeh E, Song Y, Harrell FE Jr, Denny JC, Hamm HE, Roden DM, Cleator JH.

J Thromb Thrombolysis. 2016 May;41(4):656-62. doi: 10.1007/s11239-015-1285-4.


Landmark Fractional Flow Reserve Trials.

Lynch DR Jr, Fearon WF.

Interv Cardiol Clin. 2015 Oct;4(4):435-441. doi: 10.1016/j.iccl.2015.06.004. Epub 2015 Sep 16. Review.


Supplemental Content

Loading ...
Support Center