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The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
Hasholt L, Ballegaard M, Bundgaard H, Christiansen M, Law I, Lund AM, Norremolle A, Krogh Rasmussen A, Ravn K, Tumer Z, Wibrand F, Feldt-Rasmussen U. Hasholt L, et al. Among authors: ballegaard m. Scand J Clin Lab Invest. 2017 Dec;77(8):617-621. doi: 10.1080/00365513.2017.1390782. Epub 2017 Oct 16. Scand J Clin Lab Invest. 2017. PMID: 29037082
Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion.
Feldt-Rasmussen U, Dobrovolny R, Nazarenko I, Ballegaard M, Hasholt L, Rasmussen AK, Christensen EI, Sorensen SS, Wibrand F, Desnick RJ. Feldt-Rasmussen U, et al. Among authors: ballegaard m. Mol Genet Metab. 2011 Nov;104(3):314-8. doi: 10.1016/j.ymgme.2011.05.008. Epub 2011 May 14. Mol Genet Metab. 2011. PMID: 21641253
Fabry disease in children: agalsidase-beta enzyme replacement therapy.
Borgwardt L, Feldt-Rasmussen U, Rasmussen AK, Ballegaard M, Meldgaard Lund A. Borgwardt L, et al. Among authors: ballegaard m. Clin Genet. 2013 May;83(5):432-8. doi: 10.1111/j.1399-0004.2012.01947.x. Epub 2012 Sep 27. Clin Genet. 2013. PMID: 22880956
Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation.
Lindquist SG, Nielsen JE, Stokholm J, Schwartz M, Batbayli M, Ballegaard M, Erdal J, Krabbe K, Waldemar G. Lindquist SG, et al. Among authors: ballegaard m. J Neurol Sci. 2008 May 15;268(1-2):124-30. doi: 10.1016/j.jns.2007.11.021. Epub 2008 Jan 9. J Neurol Sci. 2008. PMID: 18187157
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F. Zaharieva IT, et al. Among authors: ballegaard m. Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22. Brain. 2016. PMID: 26700687 Free PMC article.
45 results