Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Jennifer Farmer"'
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1290-1300 (2024)
Abstract Objectives Friedreich ataxia (FRDA) is a rare genetic disorder caused by mutations in the FXN gene, leading to progressive coordination loss and other symptoms. The recently approved omaveloxolone targets this condition but is limited to pat
Externí odkaz:
https://doaj.org/article/b24df4bc64ff45a082bac95a6a27f01d
Autor:
Russell Clayton, Teresa Galas, Noreen Scherer, Jennifer Farmer, Nancy Ruiz, Mohamed Hamdani, Devin Schecter, David Bettoun
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 540-553 (2024)
Abstract Objective Current treatments for Friedreich's ataxia, a neurodegenerative disorder characterized by decreased intramitochondrial frataxin, do not address low frataxin concentrations. Nomlabofusp (previously CTI‐1601) is a frataxin replacem
Externí odkaz:
https://doaj.org/article/b4fc1403303547118a149d03de4225b8
Autor:
David R. Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 1, Pp 4-16 (2024)
Abstract 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). To understand the utility of this study in analysis of
Externí odkaz:
https://doaj.org/article/cae541cd926943679e42402f8027f507
Autor:
Louise A. Corben, Veronica Collins, Sarah Milne, Jennifer Farmer, Ann Musheno, David Lynch, Sub Subramony, Massimo Pandolfo, Jörg B. Schulz, Kim Lin, Martin B. Delatycki, the Clinical Management Guidelines Writing Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-25 (2022)
Abstract Background Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, clinical management guidelines (CMGs) were developed in 2014. Howe
Externí odkaz:
https://doaj.org/article/bccb96364a5942beb25622f936bfba6e
Publikováno v:
Archives of Public Health, Vol 80, Iss 1, Pp 1-13 (2022)
Abstract Background Teen pregnancy prevention in the United States has traditionally focused on the development, testing, and subsequent implementation of a set of evidence-based programs (EBPs), recommended nationally. However, these existing EBPs o
Externí odkaz:
https://doaj.org/article/3175e74b80764e2583f135d8e8bfe1ab
Autor:
Hao Wang, Jonathan Norton, Lin Xu, Nicholas DeMartinis, Rohini Sen, Ankit Shah, Jennifer Farmer, David Lynch
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1343-1352 (2021)
Abstract Objectives Friedreich ataxia (FRDA) is a rare disorder with progressive neurodegeneration and cardiomyopathy. Luvadaxistat (also known as TAK‐831; NBI‐1065844), an inhibitor of the enzyme d‐amino acid oxidase, has demonstrated benefici
Externí odkaz:
https://doaj.org/article/992cb32469ac453d80174b3b98fbb6dc
Autor:
Nellie Georgiou-Karistianis, Louise A Corben, Kathrin Reetz, Isaac M Adanyeguh, Manuela Corti, Dinesh K Deelchand, Martin B Delatycki, Imis Dogan, Rebecca Evans, Jennifer Farmer, Marcondes C França, William Gaetz, Ian H Harding, Karen S Harris, Steven Hersch, Richard Joules, James J Joers, Michelle L Krishnan, Michelle Lax, Eric F Lock, David Lynch, Thomas Mareci, Sahan Muthuhetti Gamage, Massimo Pandolfo, Marina Papoutsi, Thiago J R Rezende, Timothy P L Roberts, Jens T Rosenberg, Sandro Romanzetti, Jörg B Schulz, Traci Schilling, Adam J Schwarz, Sub Subramony, Bert Yao, Stephen Zicha, Christophe Lenglet, Pierre-Gilles Henry
Publikováno v:
PLoS ONE, Vol 17, Iss 11, p e0269649 (2022)
IntroductionDrug development for neurodegenerative diseases such as Friedreich's ataxia (FRDA) is limited by a lack of validated, sensitive biomarkers of pharmacodynamic response in affected tissue and disease progression. Studies employing neuroimag
Externí odkaz:
https://doaj.org/article/13b6892396fd4fd9b5968cce8f1724fb
Autor:
Ian A Blair, Jennifer Farmer, Steven Hersch, Jane Larkindale, David R Lynch, Jill Napierala, Marek Napierala, R Mark Payne, Sub H Subramony
Publikováno v:
Future Science OA, Vol 5, Iss 6 (2019)
The 2018 FARA Biomarker Meeting highlighted the current state of development of biomarkers for Friedreich’s ataxia. A mass spectroscopy assay to sensitively measure mature frataxin (reduction of which is the root cause of disease) is being develope
Externí odkaz:
https://doaj.org/article/3b444491aa6d4281b23784e7d14d4ef0
Autor:
David R Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer
RationaleThe natural history of Friedreich Ataxia (FRDA) is being investigated in a multi-center longitudinal study designated the Friedreich Ataxia Clinical Outcome Measures Study (FA-COMS). To understand the utility of this natural history dataset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72444e0813397eb11044ce60e8b8f3c4
https://doi.org/10.1101/2022.08.12.22278684
https://doi.org/10.1101/2022.08.12.22278684
Autor:
Nicholas DeMartinis, David A. Lynch, Lin Xu, Jonathan D. Norton, Rohini Sen, Hao Wang, Ankit Shah, Jennifer Farmer
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1343-1352 (2021)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objectives Friedreich ataxia (FRDA) is a rare disorder with progressive neurodegeneration and cardiomyopathy. Luvadaxistat (also known as TAK‐831; NBI‐1065844), an inhibitor of the enzyme d‐amino acid oxidase, has demonstrated beneficial effect