Zobrazeno 1 - 10
of 243
pro vyhledávání: '"Sparks Susan"'
Publikováno v:
In Molecular Genetics and Metabolism September-October 2024 143(1-2)
Autor:
Dorward Heidi, Ciccone Carla, Sonies Barbara, Harris-Love Michael, Shrader Joseph, Manoli Irini, Joe Galen, Rakocevic Goran, Sparks Susan, Krasnewich Donna, Huizing Marjan, Dalakas Marinos C, Gahl William A
Publikováno v:
BMC Neurology, Vol 7, Iss 1, p 3 (2007)
Abstract Background Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, adult onset, non-inflammatory neuromuscular disorder with no effective treatment. The causative gene, GNE, codes for UDP-N-acetylglucosamine 2-epimerase/N-acetyl
Externí odkaz:
https://doaj.org/article/17dd9c74b7ac4987be046db553795ec6
Autor:
Kishnani, Priya S., Kronn, David, Brassier, Anaïs, Broomfield, Alexander, Davison, James, Hahn, Si Houn, Kumada, Satoko, Labarthe, François, Ohki, Hirotaka, Pichard, Samia, Prakalapakorn, S. Grace, Haack, Kristina An, Kittner, Barbara, Meng, Xianzhang, Sparks, Susan, Wilson, Catherine, Zaher, Atef, Chien, Yin-Hsiu
Publikováno v:
In Genetics in Medicine February 2023 25(2)
Akademický článek
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Autor:
Kishnani, Priya S., Gibson, James B., Gambello, Michael J., Hillman, Richard, Stockton, David W., Kronn, David, Leslie, Nancy D., Pena, Loren D.M., Tanpaiboon, Pranoot, Day, John W., Wang, Raymond Y., Goldstein, Jennifer L., An Haack, Kristina, Sparks, Susan E., Zhao, Yang, Hahn, Si Houn
Publikováno v:
In Genetics in Medicine November 2019 21(11):2543-2551
Autor:
Hahn, Si Houn, Kronn, David, Leslie, Nancy D., Pena, Loren D.M., Tanpaiboon, Pranoot, Gambello, Michael J., Gibson, James B., Hillman, Richard, Stockton, David W., Day, John W., Wang, Raymond Y., An Haack, Kristina, Shafi, Raheel, Sparks, Susan, Zhao, Yang, Wilson, Catherine, Kishnani, Priya S.
Publikováno v:
In Genetics in Medicine October 2018 20(10):1284-1294
Autor:
Wu, Bo, Shah, Sapana N., Lu, Peijuan, Bollinger, Lauren E., Blaeser, Anthony, Sparks, Susan, Harper, Amy D., Lu, Qi L.
Publikováno v:
In The American Journal of Pathology April 2018 188(4):1069-1080
Autor:
Quistad, Gary B., Barlow, Carrolee, Winrow, Christopher J., Sparks, Susan E., Casida, John E.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2003 Jun . 100(13), 7983-7987.
Externí odkaz:
https://www.jstor.org/stable/3139858
Autor:
Wassif, Christopher A. 1, Kratz, Lisa 2, Sparks, Susan E. 1, 3, Wheeler, Courtney 4, Bianconi, Simona 1, Gropman, Andrea 5, Calis, Karim A. 6, Kelley, Richard I. 7, Tierney, Elaine 4, Porter, Forbes D. 1
Publikováno v:
In Genetics in Medicine March 2017 19(3):297-305
Autor:
Kronn, David, Kishnani, Priya, Davison, James, Brassier, Anais, Broomfield, Alexander, Hahn, Sihoun, Kumada, Satoko, Labarthe, François, Ohki, Hirotaka, Haack, Kristina An, Sparks, Susan, Tammireddy, Swathi, Zaher, Atef, Zhou, Tianyue, Chien, Yin-Hsiu
Publikováno v:
In Molecular Genetics and Metabolism February 2024 141(2)