Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ashlin S. Rodrigues"'
Autor:
Vincent J Carson, Erik G Puffenberger, Lauren E Bowser, Karlla W Brigatti, Millie Young, Dominika Korulczyk, Ashlin S Rodrigues, KaLynn K Loeven, Kevin A Strauss
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0202104 (2018)
We correlate chromosome 5 haplotypes and SMN2 copy number with disease expression in 42 Mennonite and 14 Amish patients with spinal muscular atrophy (SMA). A single haplotype (A1) with 1 copy of SMN2 segregated among all Amish patients. SMN1 deletion
Externí odkaz:
https://doaj.org/article/b0b1f5ec37954fb1bcb69e96611e98eb
Autor:
Stephanie Chopko, Millie Young, Vincent J Carson, George V. Mazariegos, Jennifer Hailey, Cora M. Taylor, Barbara Haas-Givler, Karlla W. Brigatti, KaLynn K. Loeven, Erik G. Puffenberger, Adam D. Heaps, Keturah Beiler, Ashlin S. Rodrigues, Kyle Soltys, Emilie R. Muelly, Kevin A. Strauss, Lauren E. Bowser, Zachary Radcliff, Christine Hendrickson, Katie B. Williams, Diana A. Shellmer, D. Holmes Morton, Donna L. Robinson
Publikováno v:
Molecular Genetics and Metabolism. 129:193-206
Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain α-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple syrup urine disease (MSUD)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86af95984cf0f1393318580bd7a2c565
https://doi.org/10.1016/j.ymgme.2020.01.006
https://doi.org/10.1016/j.ymgme.2020.01.006
Autor:
Millie Young, Dominika Korulczyk, Vincent J Carson, Kevin A. Strauss, KaLynn K. Loeven, Erik G. Puffenberger, Ashlin S. Rodrigues, Lauren E. Bowser, Karlla W. Brigatti
Publikováno v:
PLoS ONE
PLoS ONE, Vol 13, Iss 9, p e0202104 (2018)
PLoS ONE, Vol 13, Iss 9, p e0202104 (2018)
We correlate chromosome 5 haplotypes and SMN2 copy number with disease expression in 42 Mennonite and 14 Amish patients with spinal muscular atrophy (SMA). A single haplotype (A1) with 1 copy of SMN2 segregated among all Amish patients. SMN1 deletion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e808f2e5e70580a9386b321455288cfa
http://europepmc.org/articles/PMC6126807
http://europepmc.org/articles/PMC6126807