Results 141 to 150 of about 7,333,851 (157)

Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene

Journal of the Neurological Sciences, 2007
Stanislav Sutovsky, Robert Petrović, Jan Chandoga   +2 more
exaly  

NOVEL MUTATIONS IN THE ABCD1 GENE OF TWO TAIWANESE PATIENTS WITH ADRENOLEUKODYSTROPHY

Neuropediatrics, 2006
J Liang, CC Sung, JF Lu
openaire   +1 more source

A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease

Biochemistry and Cell Biology, 2016
Fakhri Kallabi, Ghada Ben Salah, Amel Ben Chehida   +2 more
exaly  

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient.

Neurosciences research, 2015
Fakhri Kallabi, I. Hadj Salem, A. Ben Chehida, Ghada Ben Salah, H. Ben Turkia, N. Tebib, L. Keskes, H. Kamoun   +7 more
semanticscholar   +1 more source

Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene

Molecular Genetics and Metabolism, 2002
Jorge E Azevedo
exaly  

Eight novelABCD1gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange

Human Mutation, 2001
Lenka Dvořáková, Gabriela Štorkánová, Jiří Zeman   +2 more
exaly  

Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance

Neuromuscular Disorders, 2019
Michelle L Mauermann, Zhiyv Niu, Deborah L Renaud   +2 more
exaly  

Addison disease as presenting manifestation of one patient with adrenoleukodystrophy and identification of a novel ABCD1 gene mutation

, 2019
Yue Zhou, B. Dong, Xiang Wang, Zhuang Geng, Yajing Huang, Yangang Wang   +5 more
semanticscholar   +1 more source

Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation

Journal of the Neurological Sciences, 2010
Chia-Chi Hsu, Ching-Shiang Chi
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
Johannes Berger
exaly