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Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K, Bross P, Koefoed P, Hjermind LE, Eiberg H, Born AP, Vissing J, Gyllenborg J, Nørremølle A, Hasholt L, Nielsen JE. Svenstrup K, et al. J Neurol Sci. 2009 Sep 15;284(1-2):90-5. doi: 10.1016/j.jns.2009.04.024. Epub 2009 May 6. J Neurol Sci. 2009. PMID: 19423133
Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'.
Svenstrup K, Giraud G, Boespflug-Tanguy O, Danielsen ER, Thomsen C, Rasmussen K, Law I, Vogel A, Stokholm J, Crone C, Hjermind LE, Nielsen JE. Svenstrup K, et al. J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):666-72. doi: 10.1136/jnnp.2009.180315. Epub 2009 Dec 1. J Neurol Neurosurg Psychiatry. 2010. PMID: 19955111
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
Eiberg H, Hansen L, Korbo L, Nielsen IM, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE. Eiberg H, et al. Among authors: svenstrup k. Clin Genet. 2012 Sep;82(3):256-63. doi: 10.1111/j.1399-0004.2011.01745.x. Epub 2011 Jul 18. Clin Genet. 2012. PMID: 21696388
36 results