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Items: 22

1.

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.

Verhagen JMA, van den Born M, van der Linde HC, G J Nikkels P, Verdijk RM, Kivlen MH, van Unen LMA, Baas AF, Ter Heide H, van Osch-Gevers L, Hoogeveen-Westerveld M, Herkert JC, Bertoli-Avella AM, van Slegtenhorst MA, Wessels MW, Verheijen FW, Hassel D, Hofstra RMW, Hegde RS, van Hasselt PM, van Ham TJ, van de Laar IMBH.

Circ Genom Precis Med. 2019 Sep;12(9):397-406. doi: 10.1161/CIRCGEN.119.002507. Epub 2019 Aug 28.

PMID:
31461301
2.

Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development.

Kuil LE, López Martí A, Carreras Mascaro A, van den Bosch JC, van den Berg P, van der Linde HC, Schoonderwoerd K, Ruijter GJG, van Ham TJ.

Glia. 2019 Sep;67(9):1705-1718. doi: 10.1002/glia.23641. Epub 2019 May 29.

3.

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.

Oosterhof N, Chang IJ, Karimiani EG, Kuil LE, Jensen DM, Daza R, Young E, Astle L, van der Linde HC, Shivaram GM, Demmers J, Latimer CS, Keene CD, Loter E, Maroofian R, van Ham TJ, Hevner RF, Bennett JT.

Am J Hum Genet. 2019 May 2;104(5):936-947. doi: 10.1016/j.ajhg.2019.03.010. Epub 2019 Apr 11.

PMID:
30982608
4.

Reverse genetic screen reveals that Il34 facilitates yolk sac macrophage distribution and seeding of the brain.

Kuil LE, Oosterhof N, Geurts SN, van der Linde HC, Meijering E, van Ham TJ.

Dis Model Mech. 2019 Mar 8;12(3). pii: dmm037762. doi: 10.1242/dmm.037762.

5.

Colony-Stimulating Factor 1 Receptor (CSF1R) Regulates Microglia Density and Distribution, but Not Microglia Differentiation In Vivo.

Oosterhof N, Kuil LE, van der Linde HC, Burm SM, Berdowski W, van Ijcken WFJ, van Swieten JC, Hol EM, Verheijen MHG, van Ham TJ.

Cell Rep. 2018 Jul 31;24(5):1203-1217.e6. doi: 10.1016/j.celrep.2018.06.113.

6.

IDH1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis.

Gao Y, de Wit M, Struys EA, van der Linde HCZ, Salomons GS, Lamfers MLM, Willemsen R, Sillevis Smitt PAE, French PJ.

PLoS One. 2018 Jun 28;13(6):e0199737. doi: 10.1371/journal.pone.0199737. eCollection 2018.

7.

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.

Gui H, Schriemer D, Cheng WW, Chauhan RK, Antiňolo G, Berrios C, Bleda M, Brooks AS, Brouwer RW, Burns AJ, Cherny SS, Dopazo J, Eggen BJ, Griseri P, Jalloh B, Le TL, Lui VC, Luzón-Toro B, Matera I, Ngan ES, Pelet A, Ruiz-Ferrer M, Sham PC, Shepherd IT, So MT, Sribudiani Y, Tang CS, van den Hout MC, van der Linde HC, van Ham TJ, van IJcken WF, Verheij JB, Amiel J, Borrego S, Ceccherini I, Chakravarti A, Lyonnet S, Tam PK, Garcia-Barceló MM, Hofstra RM.

Genome Biol. 2017 Mar 8;18(1):48. doi: 10.1186/s13059-017-1174-6.

8.

Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.

Hukema RK, Riemslagh FW, Melhem S, van der Linde HC, Severijnen LW, Edbauer D, Maas A, Charlet-Berguerand N, Willemsen R, van Swieten JC.

Acta Neuropathol Commun. 2016 Dec 9;4(1):129. No abstract available.

9.

Identification of a conserved and acute neurodegeneration-specific microglial transcriptome in the zebrafish.

Oosterhof N, Holtman IR, Kuil LE, van der Linde HC, Boddeke EW, Eggen BJ, van Ham TJ.

Glia. 2017 Jan;65(1):138-149. doi: 10.1002/glia.23083. Epub 2016 Oct 19.

10.

A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.

Hukema RK, Riemslagh FW, Melhem S, van der Linde HC, Severijnen LA, Edbauer D, Maas A, Charlet-Berguerand N, Willemsen R, van Swieten JC.

Acta Neuropathol Commun. 2014 Dec 13;2:166. doi: 10.1186/s40478-014-0166-y. No abstract available. Retraction in: Acta Neuropathol Commun. 2016 Dec 9;4(1):129.

11.

The zebrafish homologue of Parkinson's disease ATP13A2 is essential for embryonic survival.

Lopes da Fonseca T, Correia A, Hasselaar W, van der Linde HC, Willemsen R, Outeiro TF.

Brain Res Bull. 2013 Jan;90:118-26. doi: 10.1016/j.brainresbull.2012.09.017. Epub 2012 Oct 31.

PMID:
23123961
12.

AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome.

Levenga J, Hayashi S, de Vrij FM, Koekkoek SK, van der Linde HC, Nieuwenhuizen I, Song C, Buijsen RA, Pop AS, Gomezmancilla B, Nelson DL, Willemsen R, Gasparini F, Oostra BA.

Neurobiol Dis. 2011 Jun;42(3):311-7. doi: 10.1016/j.nbd.2011.01.022. Epub 2011 Feb 21.

PMID:
21316452
13.

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.

J Exp Biol. 2009 Aug;212(Pt 16):2564-70. doi: 10.1242/jeb.032532.

14.

Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice.

de Vrij FM, Levenga J, van der Linde HC, Koekkoek SK, De Zeeuw CI, Nelson DL, Oostra BA, Willemsen R.

Neurobiol Dis. 2008 Jul;31(1):127-32. doi: 10.1016/j.nbd.2008.04.002. Epub 2008 Apr 25.

15.

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.

Exp Cell Res. 2007 Jan 15;313(2):244-53. Epub 2006 Oct 13.

16.

Genetic and clinical analysis of a large Dutch Gilles de la Tourette family.

Verkerk AJ, Cath DC, van der Linde HC, Both J, Heutink P, Breedveld G, Aulchenko YS, Oostra BA.

Mol Psychiatry. 2006 Oct;11(10):954-64. Epub 2006 Aug 8.

PMID:
16894393
17.

Novel parkin mutations detected in patients with early-onset Parkinson's disease.

Bertoli-Avella AM, Giroud-Benitez JL, Akyol A, Barbosa E, Schaap O, van der Linde HC, Martignoni E, Lopiano L, Lamberti P, Fincati E, Antonini A, Stocchi F, Montagna P, Squitieri F, Marini P, Abbruzzese G, Fabbrini G, Marconi R, Dalla Libera A, Trianni G, Guidi M, De Gaetano A, Boff Maegawa G, De Leo A, Gallai V, de Rosa G, Vanacore N, Meco G, van Duijn CM, Oostra BA, Heutink P, Bonifati V; Italian Parkinson Genetics Network.

Mov Disord. 2005 Apr;20(4):424-31.

PMID:
15584030
18.

Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring.

Galjaard RJ, van der Linde HC, Eussen BH, de Vries BB, Wouters CH, Oostra BA, de Graaff E, Heutink P.

Am J Med Genet A. 2003 Aug 30;121A(2):168-73.

PMID:
12910499
19.

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.

Lettice LA, Horikoshi T, Heaney SJ, van Baren MJ, van der Linde HC, Breedveld GJ, Joosse M, Akarsu N, Oostra BA, Endo N, Shibata M, Suzuki M, Takahashi E, Shinka T, Nakahori Y, Ayusawa D, Nakabayashi K, Scherer SW, Heutink P, Hill RE, Noji S.

Proc Natl Acad Sci U S A. 2002 May 28;99(11):7548-53.

20.

A double RING-H2 domain in RNF32, a gene expressed during sperm formation.

van Baren MJ, van der Linde HC, Breedveld GJ, Baarends WM, Rizzu P, de Graaff E, Oostra BA, Heutink P.

Biochem Biophys Res Commun. 2002 Mar 22;292(1):58-65.

PMID:
11890671
21.

X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.

Galjaard RJ, Kostakoglu N, Hoogeboom JJ, Breedveld GJ, van der Linde HC, Hovius SE, Oostra BA, Sandkuijl LA, Akarsu AN, Heutink P.

Eur J Hum Genet. 2001 Sep;9(9):653-8. Review.

22.

Thin-layer chromatographic method for the quantitative analysis of L-tryptophan in human plasma.

Hundt HK, Clark EC, van der Linde HC.

J Chromatogr. 1980 Apr 11;182(1):110-5. No abstract available.

PMID:
7380895

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