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Items: 8

1.

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.

Clin Genet. 2019 Aug;96(2):126-133. doi: 10.1111/cge.13544. Epub 2019 May 6.

PMID:
30919934
2.

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 RY, Bouman K, van Essen AJ, Gijsbers AC, Ruivenkamp CA, Boon EM.

Haemophilia. 2015 May;21(3):e237-9. doi: 10.1111/hae.12648. Epub 2015 Feb 5. No abstract available.

PMID:
25655912
3.

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.

Neuromuscul Disord. 2013 Jun;23(6):456-60. doi: 10.1016/j.nmd.2013.03.012. Epub 2013 Apr 19.

PMID:
23607914
4.

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.

Clin Genet. 2008 Nov;74(5):481-5. doi: 10.1111/j.1399-0004.2008.00996.x. Epub 2008 Apr 8.

PMID:
18400034
5.

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.

N Engl J Med. 2007 Dec 27;357(26):2677-86.

6.

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.

van der Kooi AJ, Frankhuizen WS, Barth PG, Howeler CJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, van Ommen GJ, de Visser M, Bakker E, Ginjaar HB.

Neurology. 2007 Jun 12;68(24):2125-8.

PMID:
17562833
7.

CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.

Reijneveld JC, Ginjaar IB, Frankhuizen WS, Notermans NC.

Muscle Nerve. 2006 Nov;34(5):656-8.

PMID:
16770780
8.

The insulin receptor tyrosine kinase domain in a chimaeric epidermal growth factor-insulin receptor generates Ca2+ signals through the PLC-gamma1 pathway.

Telting D, Smeets RL, Willems PH, van der Zon GC, Frankhuizen WS, Maassen JA.

Biochim Biophys Acta. 1999 May 18;1431(2):421-32.

PMID:
10350617

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