M. Motazacker

发表

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

Dagmar Wieczorek, Stephan J Sigrist, Kirsten Cremer, 2012, American journal of human genetics.

Lipoprotein distribution and serum concentrations of 7α-hydroxy-4-cholesten-3-one and bile acids: effects of monogenic disturbances in high-density lipoprotein metabolism.

L. Rohrer, R. Frikke-Schmidt, A. Tybjaerg-hansen, 2012, Clinical science.

Plasma levels of sphingosine-1-phosphate and apolipoprotein M in patients with monogenic disorders of HDL metabolism.

T. Hornemann, A. von Eckardstein, L. Rohrer, 2011, Atherosclerosis.

Characterization of antioxidant/anti-inflammatory properties and apoA-I-containing subpopulations of HDL from family subjects with monogenic low HDL disorders.

M. Motazacker, J. Kuivenhoven, A. Chroni, 2011, Clinica chimica acta; international journal of clinical chemistry.

Excess of Rare Variants in HDLC Dyslipidemia 1523 Rare Variants in Lipid Geneset and Lipid-Unrelated Genes

C. Shoulders, M. Motazacker, J. Kuivenhoven, 2022 .

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations

Ethan M. Goldberg, Zara, Silvana, 2021 .

Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families

M. Hayden, J. Kastelein, J. Kastelein, 2014, Clinical genetics.

Genetic variant of the scavenger receptor BI in humans.

Jan Albert Kuivenhoven, J. Kastelein, J. Kastelein, 2011, The New England journal of medicine.

Evidence of a Polygenic Origin of Extreme High-Density Lipoprotein Cholesterol Levels

C. Shoulders, M. Motazacker, J. Kuivenhoven, 2013, Arteriosclerosis, thrombosis, and vascular biology.

Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein.

J. Kastelein, J. Nelson, N. Zelcer, 2013, European heart journal.

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.

S. Gabriel, S. Kathiresan, R. Do, 2012, European heart journal.

BOD1 Is Required for Cognitive Function in Humans and Drosophila

J. Swedlow, H. Scherthan, U. Felbor, 2016, PLoS genetics.

Genome-Wide Association Studies in Atherosclerosis

S. Sivapalaratnam, M. Trip, M. Motazacker, 2011, Current atherosclerosis reports.

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

Wei Chen, S. Lenzner, H. Ropers, 2007, Human Genetics.

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

R. Stevenson, K. Doheny, V. Narayanan, 2021, npj Genomic Medicine.

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

R. Stevenson, K. Doheny, V. Narayanan, 2021, NPJ genomic medicine.

Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man.

A. Zwinderman, J. Seidman, L. Tabak, 2011, Cell metabolism.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

University of Dundee BOD 1 Is Required for Cognitive Function in Humans and Drosophila

Seyed, H. Scherthan, U. Felbor, 2016 .

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

R. Redon, J. Honnorat, A. Toutain, 2021, American journal of human genetics.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

W. Chung, E. Puffenberger, Z. Niu, 2021, American journal of human genetics.

Expanding the spectrum of CEP55‐associated disease to viable phenotypes

J. Gastier-Foster, E. Pivnick, M. Motazacker, 2020, American journal of medical genetics. Part A.

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.

Benjamin R. Rost, H. Ropers, D. Schmitz, 2007, American journal of human genetics.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.

Plasma levels of 27-hydroxycholesterol in humans and mice with monogenic disturbances of high density lipoprotein metabolism.

A. von Eckardstein, R. Frikke-Schmidt, A. Tybjaerg-hansen, 2011, Atherosclerosis.

Genetics of HDL-C: A Causal Link to Atherosclerosis?

J. Kastelein, M. Motazacker, G. Hovingh, 2013, Current Atherosclerosis Reports.

Are high-density lipoprotein genes and their products targets for therapy?

J. Kastelein, M. Motazacker, J. Kuivenhoven, 2010, Current opinion in lipidology.

The Aggregation Potential of the 1–15- and 1–16-Fragments of the Amyloid β Peptide and Their Influence on the Aggregation of Aβ40

M. Motazacker, J. Meijers, T. Plug, 2013 .

Proteome of human plasma very low-density lipoprotein and low-density lipoprotein exhibits a link with coagulation and lipid metabolism

M. Peppelenbosch, M. Dashty, M. Motazacker, 2014, Thrombosis and Haemostasis.

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in the Netherlands: Identification and characterization of eight novel mutations

J. Kastelein, E. Stroes, M. Motazacker, 2011, Human mutation.

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

S. Lenzner, H. Ropers, F. Rüschendorf, 2006, Human Genetics.

Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein.

J. Kastelein, J. Nelson, N. Zelcer, 2013, European heart journal.