Zobrazeno 1 - 10
of 51
pro vyhledávání: '"S Subramony"'
Autor:
Nicholas Johnson, John Day, Johanna Hamel, Charles Thornton, S Subramony, Payam Soltanzadeh, Jeffrey Statland, William Arnold, Matthew Wicklund, Kelly Ditrapani, Carrie Heusner, Chao-Yin Chen, Bradley McEvoy, Yiming Zhu, Li-Jung Tai, Elizabeth Ackermann
Publikováno v:
Thursday, April 27.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8916fd2cb0933c368b50cb0371a030e8
https://doi.org/10.1212/wnl.0000000000202529
https://doi.org/10.1212/wnl.0000000000202529
Autor:
Michaela Walker, Russell Butterfield, John Day, Katy Eichinger, Bakri Elsheikh, Seth Friedman, Angela Genge, Kiley Higgs, Nicholas Johnson, Peter Jones, Doris Leung, Leann Lewis, Hanns Lochmuller, Erin O'Ferrall, William Martens, Dennis Shaw, Perry Shieh, S Subramony, Jaya Trivedi, Leo Wang, Matthew Wicklund, Alrabi Tawil, Jeffrey Statland
Publikováno v:
Sunday, April 23.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d72198021f79280095c4880366c4e0f9
https://doi.org/10.1212/wnl.0000000000203663
https://doi.org/10.1212/wnl.0000000000203663
Akademický článek
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Akademický článek
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Autor:
Ashley McCormick, Martin B. Delatycki, Joseph Chad Hoyle, Jaclyn Tamaroff, Kimberly Y. Lin, Jonathan A. Mitchell, Maya Patel, Manuela Corti, Jennifer M. Farmer, Christian Rummey, Susan Perlman, S Subramony, Theresa A. Zesiewicz, David A. Lynch, Grace Yoon, George Wilmot, Katherine D. Mathews, Julia Dunn, Shana E. McCormack
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and ObjectivesBody mass index (BMI) and height are important indices of health. We tested the association between these outcomes and clinical characteristics in Friedreich ataxia (FRDA), a progressive neuromuscular disorder.MethodsParticip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04eeacbd2ecc7472124aad677a02d6dd
http://europepmc.org/articles/PMC8589265
http://europepmc.org/articles/PMC8589265
CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity
Autor:
Christopher M. Gomez, Lawrence J. Schut, Yoshio Ikeda, Lisa E.L. Romano, Tetsuo Ashizawa, Tammy Reid, Lis Hasholt, Tao Zu, Thomas D. Bird, Kaalak Reddy, S Subramony, Barbara A. Perez, J. Andrew Berglund, Laura P.W. Ranum, Jørgen E. Nielsen, Hannah K. Shorrock, Lauren A. Laboissonniere, Monica Banez-Coronel, Alfredo Brusco
Publikováno v:
EMBO Molecular Medicine
Perez, B A, Shorrock, H K, Banez-Coronel, M, Zu, T, Romano, L E, Laboissonniere, L A, Reid, T, Ikeda, Y, Reddy, K, Gomez, C M, Bird, T, Ashizawa, T, Schut, L J, Brusco, A, Berglund, J A, Hasholt, L F, Nielsen, J E, Subramony, S H & Ranum, L P 2021, ' CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity ', EMBO Molecular Medicine, vol. 13, no. 11, e14095 . https://doi.org/10.15252/emmm.202114095
EMBO Molecular Medicine, Vol 13, Iss 11, Pp n/a-n/a (2021)
Perez, B A, Shorrock, H K, Banez-Coronel, M, Zu, T, Romano, L E, Laboissonniere, L A, Reid, T, Ikeda, Y, Reddy, K, Gomez, C M, Bird, T, Ashizawa, T, Schut, L J, Brusco, A, Berglund, J A, Hasholt, L F, Nielsen, J E, Subramony, S H & Ranum, L P 2021, ' CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity ', EMBO Molecular Medicine, vol. 13, no. 11, e14095 . https://doi.org/10.15252/emmm.202114095
EMBO Molecular Medicine, Vol 13, Iss 11, Pp n/a-n/a (2021)
Spinocerebellar ataxia type 8 (SCA8), a dominantly inherited neurodegenerative disorder caused by a CTG•CAG expansion, is unusual because most individuals that carry the mutation do not develop ataxia. To understand the variable penetrance of SCA8,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ff48419dc26e4372e10886d7f4906a0
http://europepmc.org/articles/PMC8573593
http://europepmc.org/articles/PMC8573593
Autor:
Raymond Y. Lo, Karla P. Figueroa, Stefan M. Pulst, Chi-Ying Lin, Susan Perlman, George Wilmot, Christopher M. Gomez, Jeremy Schmahmann, Henry Paulson, Vikram G. Shakkottai, Sarah H. Ying, Theresa Zesiewicz, Khalaf Bushara, Michael Geschwind, Guangbin Xia, S S. Subramony, Tetsuo Ashizawa, Sheng-Han Kuo
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 5 (2015)
Background: The contributions of vascular risk factors to spinocerebellar ataxia (SCA) are not known.Methods: We studied 319 participants with SCA 1, 2, 3, and 6 and repeatedly measured clinical severity using the Scale for Assessment and Rating of A
Externí odkaz:
https://doaj.org/article/14b395d8005b41a98fd41890a80fb7eb
Autor:
N. Johnson, J. Day, J. Hamel, J. Statland, S. Subramony, W. Arnold, C. Thornton, M. Wicklund, P. Soltanzadeh, B. Knisely, V. Goel, K. DiTrapani, C. Chen, K. Clark, A. Peters, C. Heusner, H. Younis, L. Tai, E. Ackermann
Publikováno v:
Neuromuscular Disorders. 32:S131
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0bb55e8f5ec063b29c51d66eba3ca289
https://doi.org/10.1016/j.nmd.2022.07.372
https://doi.org/10.1016/j.nmd.2022.07.372
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
CCG•CGG interruptions in high penetrance SCA8 families increase RAN translation and protein toxicity
Autor:
J. Andrew Berglund, Laura P.W. Ranum, Yoshio Ikeda, Thomas D. Bird, Lawrence J. Schut, S Subramony, Tammy Reid, Alfredo Brusco, Barbara A. Perez, Lis Hasholt, Tetsuo Ashizawa, Monica Banez-Coronel, Kaalak Reddy, Christopher M. Gomez, Hannah K. Shorrock, Jørgen E. Nielsen, Lauren A. Laboissonniere
Spinocerebellar ataxia type 8 (SCA8), a dominantly inherited neurodegenerative disorder caused by a CTG•CAG expansion, is unusual because most individuals that carry the mutation do not develop ataxia. To understand the variable penetrance of SCA8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02a72fb4c525293fd4cac4851e0a2d37
https://doi.org/10.1101/2021.02.08.430311
https://doi.org/10.1101/2021.02.08.430311
