Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Connor F. Murray"'
Autor:
Christina L. Nemeth, Joel Marx, Mahim Jain, Melissa Rosen, Connor F. Murray, Amena Smith Fine, Dan Wu, Oscar Larraza, Brett M. O'Brien, Ali Fatemi, Michael Delannoy, Aleksandra Trifunovic, Sophia N. Tomlinson
Publikováno v:
Exp Neurol
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare, slowly progressive white matter disease caused by mutations in the mitochondrial aspartyl-tRNA synthetase (mt-AspRS, or DARS2). While patients show
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffc91b18ae926374e3c274137104bf4e
https://doi.org/10.1016/j.expneurol.2019.113164
https://doi.org/10.1016/j.expneurol.2019.113164
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