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Phenotype of adult Refsum disease due to a defect in peroxin 7.
Horn MA, van den Brink DM, Wanders RJ, Duran M, Poll-The BT, Tallaksen CM, Stokke OH, Moser H, Skjeldal OH. Horn MA, et al. Neurology. 2007 Feb 27;68(9):698-700. doi: 10.1212/01.wnl.0000255960.01644.39. Neurology. 2007. PMID: 17325280
[Refsum disease--a rare cause of polyneuropathy].
Horn MA, Skjeldal OH. Horn MA, et al. Tidsskr Nor Laegeforen. 2007 Aug 9;127(15):1960. Tidsskr Nor Laegeforen. 2007. PMID: 17700744 Free article. Norwegian. No abstract available.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H. Nicole S, et al. Among authors: horn ma. Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20. Brain. 2014. PMID: 24951643
140 results