Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Darryl C. De Vivo, MD"'
Autor:
Jeremy S. Francis, PhD, Ireneusz Wojtas, PhD, Vladimir Markov, MD, Steven J. Gray, PhD, Thomas J. McCown, PhD, R. Jude Samulski, PhD, Larissa T. Bilaniuk, MD, Dah-Jyuu Wang, PhD, Darryl C. De Vivo, MD, Christopher G. Janson, MD, Paola Leone, PhD
Publikováno v:
Neurobiology of Disease, Vol 96, Iss , Pp 323-334 (2016)
Breakdown of neuro-glial N-acetyl-aspartate (NAA) metabolism results in the failure of developmental myelination, manifest in the congenital pediatric leukodystrophy Canavan disease caused by mutations to the sole NAA catabolizing enzyme aspartoacyla
Externí odkaz:
https://doaj.org/article/36bbbc38714a4910a6a154ba0ec668da
Autor:
Yasemin Gulcan Kurt MD, Jorida Çoku MS, H. Orhan Akman PhD, Ali Naini PhD, Jesheng Lu PhD, Kristin Engelstad MS, Michio Hirano MD, Darryl C. De Vivo MD, Salvatore DiMauro MD
Publikováno v:
Child Neurology Open, Vol 3 (2016)
Dystonia is often associated with the symmetrical basal ganglia lesions of Leigh syndrome. However, it has also been associated with mitochondrial ND mutations, with or without Leber hereditary optic neuropathy. The m.14459G>A mutation in ND6 causes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::327ce975345fecd9831da0a1d6f71b95
https://doaj.org/article/1993d142b6854626afa4d6163b9df8b2
https://doaj.org/article/1993d142b6854626afa4d6163b9df8b2