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Page 1
ANO5 mutations in the Dutch limb girdle muscular dystrophy population.
van der Kooi AJ, Ten Dam L, Frankhuizen WS, Straathof CS, van Doorn PA, de Visser M, Ginjaar IB. van der Kooi AJ, et al. Among authors: frankhuizen ws. Neuromuscul Disord. 2013 Jun;23(6):456-60. doi: 10.1016/j.nmd.2013.03.012. Epub 2013 Apr 19. Neuromuscul Disord. 2013. PMID: 23607914
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo R, Voermans N, Verrips A, Hoogendijk JE, van der Pol L, Westra D, de Visser M, van der Kooi AJ, Ginjaar I. Ten Dam L, et al. Among authors: frankhuizen ws. Clin Genet. 2019 Aug;96(2):126-133. doi: 10.1111/cge.13544. Epub 2019 May 6. Clin Genet. 2019. PMID: 30919934
Local dystrophin restoration with antisense oligonucleotide PRO051.
van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M, den Dunnen JT, Koop K, van der Kooi AJ, Goemans NM, de Kimpe SJ, Ekhart PF, Venneker EH, Platenburg GJ, Verschuuren JJ, van Ommen GJ. van Deutekom JC, et al. Among authors: frankhuizen ws. N Engl J Med. 2007 Dec 27;357(26):2677-86. doi: 10.1056/NEJMoa073108. N Engl J Med. 2007. PMID: 18160687 Free article. Clinical Trial.
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
Stam AH, Vanmolkot KR, Kremer HP, Gärtner J, Brown J, Leshinsky-Silver E, Gilad R, Kors EE, Frankhuizen WS, Ginjaar HB, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM, Terwindt GM. Stam AH, et al. Among authors: frankhuizen ws. Clin Genet. 2008 Nov;74(5):481-5. doi: 10.1111/j.1399-0004.2008.00996.x. Epub 2008 Apr 8. Clin Genet. 2008. PMID: 18400034
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients.
Fransen van de Putte DE, Frankhuizen WS, Vijfhuizen L, Groenewegen L, Tamminga RYJ, Bouman K, van Essen AJ, Gijsbers ACJ, Ruivenkamp CAL, Boon EMJ. Fransen van de Putte DE, et al. Among authors: frankhuizen ws. Haemophilia. 2015 May;21(3):e237-e239. doi: 10.1111/hae.12648. Epub 2015 Feb 5. Haemophilia. 2015. PMID: 25655912 No abstract available.