Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Miriam A. Kaufman"'
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-15 (2019)
Abstract Background The mitochondrial aminoacyl-tRNA synthetase proteins (mt-aaRSs) are a group of nuclear-encoded enzymes that facilitate conjugation of each of the 20 amino acids to its cognate tRNA molecule. Mitochondrial diseases are a large, cli
Externí odkaz:
https://doaj.org/article/7ca3c8f0f7e1417da7bb60e3a2e38c0b
Autor:
Bela R, Turk, Christina L, Nemeth, Joel S, Marx, Carol, Tiffany, Richard, Jones, Benjamin, Theisen, Siva, Kambhampati, Raj, Ramireddy, Sarabdeep, Singh, Melissa, Rosen, Miriam L, Kaufman, Connor F, Murray, Paul A, Watkins, Sujatha, Kannan, Rangaramanujam, Kannan, Ali, Fatemi
Publikováno v:
Annals of neurology. 84(3)
OBJECTIVE: X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disorder due to mutations in the peroxisomal very long-chain fatty acyl-CoA transporter, ABCD1, with limited therapeutic options. ALD may manifest in a slowly progressive adrenomye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fb3cb6cb9db75cbf251045b09cd39423
https://pubmed.ncbi.nlm.nih.gov/30069915
https://pubmed.ncbi.nlm.nih.gov/30069915
Autor:
Ryan J. Shaw1 ryan.shaw@duke.edu, Miriam A. Kaufman1, Hayden B. Bosworth1,2,3, Weiner, Bryan J.4, Zullig, Leah L.1,4, Shoou-Yih Daniel Lee5, Kravetz, Jeffrey D.6,7, Rakley, Susan M.2,8, Roumie, Christianne L.9,10, Bowen, Michael E.11, Monte, Pamela S. Del8, Oddone, Eugene Z.1,2, Jackson, George L.1,2
Publikováno v:
Implementation Science. 2013, Vol. 8 Issue 1, p1-13. 13p.