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Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.
Verpoorten N, Claeys KG, Deprez L, Jacobs A, Van Gerwen V, Lagae L, Arts WF, De Meirleir L, Keymolen K, Ceuterick-de Groote C, De Jonghe P, Timmerman V, Nelis E. Verpoorten N, et al. Among authors: arts wf. Neuromuscul Disord. 2006 Jan;16(1):19-25. doi: 10.1016/j.nmd.2005.10.007. Epub 2005 Dec 20. Neuromuscul Disord. 2006. PMID: 16373086
Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine.
Jansen J, Friesema EC, Kester MH, Milici C, Reeser M, Grüters A, Barrett TG, Mancilla EE, Svensson J, Wemeau JL, Busi da Silva Canalli MH, Lundgren J, McEntagart ME, Hopper N, Arts WF, Visser TJ. Jansen J, et al. Among authors: arts wf. J Clin Endocrinol Metab. 2007 Jun;92(6):2378-81. doi: 10.1210/jc.2006-2570. Epub 2007 Mar 13. J Clin Endocrinol Metab. 2007. PMID: 17356046
PRPS1 mutations: four distinct syndromes and potential treatment.
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J. de Brouwer AP, et al. Among authors: arts wf. Am J Hum Genet. 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. Am J Hum Genet. 2010. PMID: 20380929 Free PMC article. Review.
126 results