Mientjes E - Search Results

1

NPHP4 variants are associated with pleiotropic heart malformations.

French VM, van de Laar IM, Wessels MW, Rohe C, Roos-Hesselink JW, Wang G, Frohn-Mulder IM, Severijnen LA, de Graaf BM, Schot R, Breedveld G, Mientjes E, van Tienhoven M, Jadot E, Jiang Z, Verkerk A, Swagemakers S, Venselaar H, Rahimi Z, Najmabadi H, Meijers-Heijboer H, de Graaff E, Helbing WA, Willemsen R, Devriendt K, Belmont JW, Oostra BA, Amack JD, Bertoli-Avella AM. French VM, et al. Among authors: mientjes e. Circ Res. 2012 Jun 8;110(12):1564-74. doi: 10.1161/CIRCRESAHA.112.269795. Epub 2012 May 1. Circ Res. 2012. PMID: 22550138 Free PMC article.

2

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.

Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen LA, Nieuwenhuizen IM, Schrier M, van Unen L, Tassone F, Hoogeveen AT, Hagerman PJ, Mientjes EJ, Oostra BA. Willemsen R, et al. Hum Mol Genet. 2003 May 1;12(9):949-59. doi: 10.1093/hmg/ddg114. Hum Mol Genet. 2003. PMID: 12700164 Free article.

3

Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo.

Mientjes EJ, Willemsen R, Kirkpatrick LL, Nieuwenhuizen IM, Hoogeveen-Westerveld M, Verweij M, Reis S, Bardoni B, Hoogeveen AT, Oostra BA, Nelson DL. Mientjes EJ, et al. Hum Mol Genet. 2004 Jul 1;13(13):1291-302. doi: 10.1093/hmg/ddh150. Epub 2004 May 5. Hum Mol Genet. 2004. PMID: 15128702

4

Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS).

Van Dam D, Errijgers V, Kooy RF, Willemsen R, Mientjes E, Oostra BA, De Deyn PP. Van Dam D, et al. Among authors: mientjes e. Behav Brain Res. 2005 Jul 30;162(2):233-9. doi: 10.1016/j.bbr.2005.03.007. Behav Brain Res. 2005. PMID: 15876460

5

Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome.

Koekkoek SK, Yamaguchi K, Milojkovic BA, Dortland BR, Ruigrok TJ, Maex R, De Graaf W, Smit AE, VanderWerf F, Bakker CE, Willemsen R, Ikeda T, Kakizawa S, Onodera K, Nelson DL, Mientjes E, Joosten M, De Schutter E, Oostra BA, Ito M, De Zeeuw CI. Koekkoek SK, et al. Among authors: mientjes e. Neuron. 2005 Aug 4;47(3):339-52. doi: 10.1016/j.neuron.2005.07.005. Neuron. 2005. PMID: 16055059 Free article.

6

FXTAS: a progressive neurologic syndrome associated with Fragile X premutation.

Willemsen R, Mientjes E, Oostra BA. Willemsen R, et al. Among authors: mientjes e. Curr Neurol Neurosci Rep. 2005 Sep;5(5):405-10. doi: 10.1007/s11910-005-0065-5. Curr Neurol Neurosci Rep. 2005. PMID: 16131424 Review.

7

The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo.

Mientjes EJ, Nieuwenhuizen I, Kirkpatrick L, Zu T, Hoogeveen-Westerveld M, Severijnen L, Rifé M, Willemsen R, Nelson DL, Oostra BA. Mientjes EJ, et al. Neurobiol Dis. 2006 Mar;21(3):549-55. doi: 10.1016/j.nbd.2005.08.019. Epub 2005 Oct 26. Neurobiol Dis. 2006. PMID: 16257225

8

Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.

Brouwer JR, Mientjes EJ, Bakker CE, Nieuwenhuizen IM, Severijnen LA, Van der Linde HC, Nelson DL, Oostra BA, Willemsen R. Brouwer JR, et al. Among authors: mientjes ej. Exp Cell Res. 2007 Jan 15;313(2):244-53. doi: 10.1016/j.yexcr.2006.10.002. Epub 2006 Oct 13. Exp Cell Res. 2007. PMID: 17150213 Free PMC article.

9

Reduction in fragile X related 1 protein causes cardiomyopathy and muscular dystrophy in zebrafish.

Van't Padje S, Chaudhry B, Severijnen LA, van der Linde HC, Mientjes EJ, Oostra BA, Willemsen R. Van't Padje S, et al. J Exp Biol. 2009 Aug;212(Pt 16):2564-70. doi: 10.1242/jeb.032532. J Exp Biol. 2009. PMID: 19648401

10

A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.

Punzo F, Mientjes EJ, Rohe CF, Scianguetta S, Amendola G, Oostra BA, Bertoli-Avella AM, Perrotta S. Punzo F, et al. Among authors: mientjes ej. J Thromb Haemost. 2010 Sep;8(9):2085-7. doi: 10.1111/j.1538-7836.2010.03979.x. J Thromb Haemost. 2010. PMID: 20626622 Free article. No abstract available.

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