Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference15 articles.
1. A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene;Mosser;Genomics,1994
2. X-linked adrenoleukodystrophy;Moser;Nat Clin Pract Neurol,2007
3. Adrenoleukodystrophy: new approaches to a neurodegenerative disease;Moser;JAMA,2005
4. A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration;Dunne;Ann Neurol,1999
5. Adrenoleukodystrophy presenting as spinocerebellar degeneration;Nakazato;Eur Neurol,1989
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