Results 181 to 190 of about 3,353 (190)

Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.

Journal of Neurochemistry, 2007
Ryuichiro Sato, Masashi Morita, Tsuneo Imanaka   +2 more
exaly  

A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective

Human Mutation, 2000
J, Berger, T, Korosec, G, Unterrainer, B, Molzer   +3 more
openaire   +2 more sources

Natural history of a cohort of ABCD1 variant female carriers

European Journal of Neurology, 2019
Marco Cappa, Alberto Romano, Tommaso Schirinzi   +2 more
exaly  

Retinal Ganglion Cell Loss in X-linked Adrenoleukodystrophy with an ABCD1 Mutation (Gly266Arg)

Neuro-Ophthalmology, 2014
Nobuyuki Shimozawa, Toya Ohashi, Yasuhiro Ohkuma   +2 more
exaly  

Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.

Human genetics, 2008
openaire   +3 more sources

ABCD1 mutations and the X-linked adrenoleukodystrophy database

2005
Kemp, Stephan, Wanders, Ronaldus J. A.
openaire   +1 more source

A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy

Journal of Pediatric Endocrinology and Metabolism, 2015
exaly  

Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing

Genetics in Medicine
Carlos A. Dominguez Gonzalez, Nancy B. Spinner, Rebecca C. Ahrens-Nicklas, Lisa R. Young, Laura A. Voss, Sara L. Reichert, Daniel J. Gallo, Julie S. Cohen, Joshua L. Bonkowsky, Stephanie R. Keller, Mariko L. Bennett, Amy M. Pizzino, Meghan Swantkowski, Kaley Arnold, Jamie L. Fraser, Felicity J. Emerson, Kelly Miettunen, Ali Fatemi, Keith P. Van Haren, Laura Adang, Amy Waldman, Lisa Emrick, Florian Eichler, Adeline Vanderver   +23 more
openaire   +2 more sources

Phase I clinical trial of intracerebral injection of lentiviral- for the treatment of cerebral adrenoleukodystrophy

Science Bulletin
Zhi-Qiang Cui, Qiu-Hong Wang
exaly  

INTRATHECAL DELIVERY OF NUCLEIC ACID SEQUENCES ENCODING ABCD1 FOR TREATMENT OF ADRENOMYELONEUROPATHY

2017
MAGUIRE CASEY A, EICHLER FLORIAN
openaire   +5 more sources