van Dijk T - Search Results

1

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

van Dijk T, Baas F, Barth PG, Poll-The BT. van Dijk T, et al. Orphanet J Rare Dis. 2018 Jun 15;13(1):92. doi: 10.1186/s13023-018-0826-2. Orphanet J Rare Dis. 2018. PMID: 29903031 Free PMC article. Review.

2

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

van Dijk T, van Ruissen F, Jaeger B, Rodenburg RJ, Tamminga S, van Maarle M, Baas F, Wolf NI, Poll-The BT. van Dijk T, et al. Among authors: van ruissen f, van maarle m. JIMD Rep. 2017;33:87-92. doi: 10.1007/8904_2016_584. Epub 2016 Sep 29. JIMD Rep. 2017. PMID: 27683254 Free PMC article.

3

A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.

van Dijk T, Barth P, Reneman L, Appelhof B, Baas F, Poll-The BT. van Dijk T, et al. Am J Med Genet A. 2017 Jan;173(1):207-212. doi: 10.1002/ajmg.a.37962. Epub 2016 Nov 9. Am J Med Genet A. 2017. PMID: 27862915 Review.

4

Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.

van Dijk T, Rudnik-Schöneborn S, Senderek J, Hajmousa G, Mei H, Dusl M, Aronica E, Barth P, Baas F. van Dijk T, et al. Brain. 2017 Aug 1;140(8):e46. doi: 10.1093/brain/awx147. Brain. 2017. PMID: 28637197 No abstract available.

5

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.

van Dijk T, Vermeij JD, van Koningsbruggen S, Lakeman P, Baas F, Poll-The BT. van Dijk T, et al. Among authors: van koningsbruggen s. J Inherit Metab Dis. 2018 Sep;41(5):897-898. doi: 10.1007/s10545-018-0151-x. Epub 2018 Feb 20. J Inherit Metab Dis. 2018. PMID: 29464431 Free PMC article.

6

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.

van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F. van Dijk T, et al. Eur J Hum Genet. 2018 Dec;26(12):1752-1758. doi: 10.1038/s41431-018-0233-0. Epub 2018 Aug 8. Eur J Hum Genet. 2018. PMID: 30089828 Free PMC article.

7

Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia.

van Dijk T, Barth P, Baas F, Reneman L, Poll-The BT. van Dijk T, et al. Neuropediatrics. 2021 Jun;52(3):163-169. doi: 10.1055/s-0040-1716900. Epub 2020 Oct 27. Neuropediatrics. 2021. PMID: 33111306

8

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.

Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: van dijk t. Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26. Case Rep Genet. 2015. PMID: 26587300 Free PMC article.

9

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA. Tripathy R, et al. Among authors: van dijk t, van bon bw. Neuron. 2018 Dec 19;100(6):1354-1368.e5. doi: 10.1016/j.neuron.2018.10.044. Epub 2018 Nov 15. Neuron. 2018. PMID: 30449657 Free PMC article.

10

Macro-invertebrate decline in surface water polluted with imidacloprid.

Van Dijk TC, Van Staalduinen MA, Van der Sluijs JP. Van Dijk TC, et al. PLoS One. 2013 May 1;8(5):e62374. doi: 10.1371/journal.pone.0062374. Print 2013. PLoS One. 2013. PMID: 23650513 Free PMC article.

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