Zobrazeno 1 - 10
of 96
pro vyhledávání: '"David R, Lynch"'
Autor:
Ram Kinker Mishra, Adonay S. Nunes, Ana Enriquez, Victoria R. Profeta, McKenzie Wells, David R. Lynch, Ashkan Vaziri
Publikováno v:
Communications Medicine, Vol 4, Iss 1, Pp 1-9 (2024)
Abstract Background Friedreich ataxia (FRDA) results in progressive impairment in gait, upper extremity coordination, and speech. Currently, these symptoms are assessed through expert examination at clinical visits. Such in-clinic assessments are tim
Externí odkaz:
https://doaj.org/article/a1b8419d9e664b869cc5524cdf40dce7
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1110-1121 (2024)
Abstract Objective Most individuals with Friedreich ataxia (FRDA) have homozygous GAA triplet repeat expansions in the FXN gene, correlating with a typical phenotype of ataxia and cardiomyopathy. A minority are compound heterozygotes carrying a GAA e
Externí odkaz:
https://doaj.org/article/1fd3c0832946448eb90089e7c00d06d5
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:
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:
Yi Na Dong, Lucie Vanessa Ngaba, Jacob An, Miniat W. Adeshina, Nathan Warren, Johnathan Wong, David R. Lynch
Publikováno v:
Frontiers in Pharmacology, Vol 15 (2024)
Friedreich’s ataxia (FRDA), the most common recessive inherited ataxia, results from homozygous guanine–adenine–adenine (GAA) repeat expansions in intron 1 of the FXN gene, which leads to the deficiency of frataxin, a mitochondrial protein esse
Externí odkaz:
https://doaj.org/article/85c6507586d1444db36870ac27abd122
Autor:
Joshua C. Chang, Molly R. Ryan, Marie C. Stark, Su Liu, Pravinkumar Purushothaman, Fria Bolan, Caitlin A. Johnson, Mark Champe, Hui Meng, Michael W. Lawlor, Sarah Halawani, Lucie V. Ngaba, David R. Lynch, Crystal Davis, Elena Gonzalo-Gil, Cathleen Lutz, Fabrizia Urbinati, Bala Medicherla, Carlos Fonck
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 1, Pp 101193- (2024)
Friedreich’s ataxia (FRDA) is an autosomal-recessive disorder primarily attributed to biallelic GAA repeat expansions that reduce expression of the mitochondrial protein frataxin (FXN). FRDA is characterized by progressive neurodegeneration, with m
Externí odkaz:
https://doaj.org/article/622f3ceaccb84a80bfa5ed76dfdd8605
Autor:
Yi Na Dong, Elizabeth Mercado-Ayón, Jennifer Coulman, Liam Flatley, Lucie Vanessa Ngaba, Miniat W. Adeshina, David R. Lynch
Publikováno v:
Cells, Vol 13, Iss 12, p 1040 (2024)
Friedreich’s ataxia (FRDA) is a progressive neurodegenerative disease caused in almost all patients by expanded guanine–adenine–adenine (GAA) trinucleotide repeats within intron 1 of the FXN gene. This results in a relative deficiency of fratax
Externí odkaz:
https://doaj.org/article/2f8e9649ac8d4dfbb434b16ce0507ad7
Autor:
Layne N. Rodden, Kellie McIntyre, Medina Keita, Mckenzie Wells, Courtney Park, Victoria Profeta, Amy Waldman, Christian Rummey, Laura J. Balcer, David R. Lynch
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1397-1406 (2023)
Abstract Objective Friedreich ataxia (FRDA) is an inherited condition caused by a GAA triplet repeat (GAA‐TR) expansion in the FXN gene. Clinical features of FRDA include ataxia, cardiomyopathy, and in some, vision loss. In this study, we character
Externí odkaz:
https://doaj.org/article/507dec434b804a3ca00e4ca193e6156b
Autor:
Layne N. Rodden, Kaitlyn M. Gilliam, Christina Lam, Teerapat Rojsajjakul, Clementina Mesaros, Chiara Dionisi, Mark Pook, Massimo Pandolfo, David R. Lynch, Ian A. Blair, Sanjay I. Bidichandani
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Abstract Epigenetic silencing in Friedreich ataxia (FRDA), induced by an expanded GAA triplet-repeat in intron 1 of the FXN gene, results in deficiency of the mitochondrial protein, frataxin. A lesser known extramitochondrial isoform of frataxin dete
Externí odkaz:
https://doaj.org/article/a247ba32f3a94a45a9440487d667508d
Autor:
Gilbert Thomas-Black, Andrada Dumitrascu, Hector Garcia-Moreno, Julie Vallortigara, Julie Greenfield, Barry Hunt, Susan Walther, Mackenzie Wells, David R. Lynch, Hugh Montgomery, Paola Giunti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background The development of new therapies may rely on the conduct of human experimentation as well as later clinical trials of therapeutic interventions. Ethical considerations seek to protect the patient from risk but few have sought to a
Externí odkaz:
https://doaj.org/article/7cdfe06b3261409aa3b0c3ebccaa3625