Results 71 to 80 of about 4,338 (139)
Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report
, 2021 Introduction: Adrenomyeloneuropathy is one of the manifestations of adrenoleukodystrophy-X, which is found within the 6 phenotypes of this neurodegenerative disorder.
Pacheco-Barrios, K. +9 more
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Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy
, 2019 Mutations in the gene encoding the peroxisomal ATP-binding cassette transporter (ABCD1) cause elevations in very long-chain fatty acids (VLCFAs) and the neurodegenerative disease adrenoleukodystrophy (ALD).
Maguire, Casey A. +12 more
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Adrenomyeloneuropathy in Patients with ‘Addison's Disease’: Genetic Case Analysis
, 2006 Objective To review the clinical presentations and diagnostic issues in adrenomyeloneuropathy and adrenoleukodystrophy, which are different presentations of the same single gene disorder. Design Observational study.
John N Harvey +2 more
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amn mutants show defects in egg-laying decisions.
, 2015 (A) In sucrose/caffeine chamber, amn1, amn28A, amnc651, and amnX8 flies showed significant difference in egg-laying decisions compared to wild-type flies. amnX8 showed significant difference compared to the other amn mutants. Each value represents mean ±
Tsai-Feng Fu (112400) +3 more
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The Application of Clinical Genetics, 2015 Christoph Wiesinger,1 Florian S Eichler,2 Johannes Berger1 1Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria; 2Department for Neurology, Massachusetts General Hospital, Harvard ...
Wiesinger C, Eichler FS, Berger J
doaj
, 2000 Adrenomyeloneuropathy (AMN) is one of the most frequent subtype of X-linked adrenoleucodystrophy. It's a difficult clinical entity to diagnose and treat with its combination of I. and II. motor neuron symptoms.
AYAŞ, ŞEHRİ +3 more
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Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy
, 2006 A combined genotype of polymorphisms of methionine metabolism has been associated with CNS demyelination in methotrexate-treated patients. Within a sample of 86 patients with X-linked adrenoleukodystrophy, this genotype was overrepresented in a subgroup ...
Kemp, S. +27 more
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, 2015 (A) The expression pattern of C316-GAL4 (green). The brain was immunostained with DLG antibody (red). Arrowheads indicate the somata of DPM neurons. The scale bar represents 50 μm. Genotype was as follow: UAS-mCD8::GFP/+; C316-GAL4/UAS-mCD8::GFP. (B) The
Tsai-Feng Fu (112400) +3 more
core +1 more source
Genetics and Molecular Biology, 2000 X-Linked adrenoleukodystrophy (X-ALD) is a hereditary disorder of the peroxisomal metabolism biochemically characterized by the accumulation of very long chain fatty acids (VLCFA) in tissues and biological fluids.
Vargas Carmen R. +8 more
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