Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Sub H, Subramony"'
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:
Christian Rummey, John M. Flynn, Louise A. Corben, Martin B. Delatycki, George Wilmot, Sub H. Subramony, Khalaf Bushara, Antoine Duquette, Christopher M. Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine D. Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1239-1250 (2021)
Abstract Objective The objective of this study was to characterize the incidence and progression of scoliosis in the natural history of Friedreich’s ataxia (FRDA) and document the factors leading to the requirement for corrective surgery. Methods D
Externí odkaz:
https://doaj.org/article/a2cb84dbe2df4c25be195148b462d7da
Autor:
Charles A Thornton, Richard Thomas Moxley, Katy Eichinger, Chad Heatwole, Laurence Mignon, W David Arnold, Tetsuo Ashizawa, John W Day, Gersham Dent, Matthew K Tanner, Tina Duong, Ericka P Greene, Laura Herbelin, Nicholas E Johnson, Wendy King, John T Kissel, Doris G Leung, Donovan J Lott, Daniel A Norris, Evan M Pucillo, Wendy Schell, Jeffrey M Statland, Nikia Stinson, Sub H Subramony, Shuting Xia, Kathie M Bishop, C Frank Bennett
Publikováno v:
The Lancet Neurology. 22:218-228
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06edbb966b88ee3a85a273542b721585
https://doi.org/10.1016/s1474-4422(23)00001-7
https://doi.org/10.1016/s1474-4422(23)00001-7
Autor:
Jamison Seabury, Danae Alexandrou, Nuran Dilek, Brittany Cohen, John Heatwole, Jane Larkindale, David R. Lynch, Courtney Park, Spencer Rosero, Sub H. Subramony, Anika Varma, Ellen Wagner, Susan Walther, Jennifer Weinstein, McKenzie Wells, Christine Zizzi, Chad Heatwole
Publikováno v:
Neurology
Background and ObjectivesTo determine the prevalence and relative importance of symptoms experienced by children and adults with Friedreich ataxia (FA) and to identify factors associated with a higher burden of disease.MethodsWe conducted qualitative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0df1e01df7c43883e5c21de29decc1b
https://doi.org/10.1212/wnl.0000000000201598
https://doi.org/10.1212/wnl.0000000000201598
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:
Florian P. Thomas, Thomas H. Brannagan, Russell J. Butterfield, Urvi Desai, Ali A. Habib, David N. Herrmann, Katy J. Eichinger, Nicholas E. Johnson, Chafic Karam, Alan Pestronk, Colin Quinn, Michael E. Shy, Jeffrey M. Statland, Sub H. Subramony, David Walk, Katherine Stevens-Favorite, Barry Miller, Ashley Leneus, Marcie Fowler, Marc van de Rijn, Kenneth M. Attie
Publikováno v:
Neurology
Background and ObjectivesThe goal of this work was to determine whether locally acting ACE-083 is safe and well tolerated and increases muscle volume, motor function, and quality of life (QoL) in adults with Charcot-Marie-Tooth disease (CMT) type 1.M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::329712ce8129e647a1a0a334be2da51d
https://doi.org/10.1212/wnl.0000000000200325
https://doi.org/10.1212/wnl.0000000000200325
Autor:
Gayle K, Deutsch, Katharine A, Hagerman, Jacinda, Sampson, Gersham, Dent, Jeanne, Dekdebrun, Dana M, Parker, Charles A, Thornton, Chad R, Heatwole, Sub H, Subramony, Ami K, Mankodi, Tetsuo, Ashizawa, Jeffrey M, Statland, W David, Arnold, Richard T, Moxley, John W, Day
Publikováno v:
Muscle Nerve
Myotonic dystrophy type 1 (DM1) is known to affect cognitive function, but the best methods to assess central nervous system involvement in multicenter studies have not been determined. In this study our primary aim was to evaluate the potential of c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de9e6a103276407a2bfbbf964cbe5a08
https://doi.org/10.1002/mus.27520
https://doi.org/10.1002/mus.27520
The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications
Autor:
Louisa P. Selvadurai, Susan L. Perlman, George R. Wilmot, Sub H. Subramony, Christopher M. Gomez, Tetsuo Ashizawa, Henry L. Paulson, Chiadi U. Onyike, Liana S. Rosenthal, Haris I. Sair, Sheng-Han Kuo, Eva-Maria Ratai, Theresa A. Zesiewicz, Khalaf O. Bushara, Gülin Öz, Cameron Dietiker, Michael D. Geschwind, Alexandra B. Nelson, Puneet Opal, Talene A. Yacoubian, Peggy C. Nopoulos, Vikram G. Shakkottai, Karla P. Figueroa, Stefan M. Pulst, Peter E. Morrison, Jeremy D. Schmahmann
Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders, but there is no metric that predicts disease severity over time. We hypothesized that by developing a new metric, the Severity Factor (S-Factor) using immutable disease param
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d9f84d79ecb1e743ffa267784f9f2c4
https://escholarship.org/uc/item/798300bm
https://escholarship.org/uc/item/798300bm
Publikováno v:
Pediatric neurology. 131
The purpose of this review is to describe the current diagnostic approach to inherited ataxias during childhood. With the expanding use and availability of gene testing technologies including large sequencing panels, the ability to arrive at a precis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0200d8cb9dff151bc93166e6e3e2723
https://pubmed.ncbi.nlm.nih.gov/35490578
https://pubmed.ncbi.nlm.nih.gov/35490578
Autor:
Christian Rummey, Louise A. Corben, Martin Delatycki, George Wilmot, Sub H. Subramony, Manuela Corti, Khalaf Bushara, Antoine Duquette, Christopher Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch
Publikováno v:
Neurology.
Background and ObjectivesThe understanding of the natural history of Friedreich ataxia (FRDA) has improved considerably recently, but patterns of neurologic deterioration are not fully clarified, compromising the assessment of the clinical relevance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae96347eebb26547918a9954881c7f33
https://pubmed.ncbi.nlm.nih.gov/35817567
https://pubmed.ncbi.nlm.nih.gov/35817567