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Clinical Pharmacokinetics|May 8, 2026
Population Pharmacokinetic/Pharmacodynamic Modeling of Therapeutic Enzymes in Lysosomal Storage DiseasesIna Barzel, Ans T van der Ploeg, W W M Pim Pijnappel, et al.
Nucleic Acids Research|October 21, 2011
Interconversion between active and inactive TATA-binding protein transcription complexes in the mouse genomeMohamed-Amin Choukrallah, Dominique Kobi, Igor Martianov, et al.
The Biochemical Journal|June 30, 2009
Human Ccr4-Not complexes contain variable deadenylase subunitsNga-Chi Lau, Annemieke Kolkman, Frederik M A van Schaik, et al.
Developmental Medicine and Child Neurology|May 26, 2017
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotypeAudrey A M Vollebregt, Marianne Hoogeveen-Westerveld, Marian A Kroos, et al.
European Journal of Human Genetics : EJHG|November 10, 2020
A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe diseaseAtze J Bergsma, Stijn L M In 't Groen, Fabio Catalano, et al.
Molecular Therapy. Methods & Clinical Development|November 19, 2020
A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VIMike Broeders, Kasper Smits, Busra Goynuk, et al.
Nucleic Acids Research|October 7, 2011
Tight cooperation between Mot1p and NC2β in regulating genome-wide transcription, repression of transcription following heat shock induction and genetic interaction with SAGAGianpiero Spedale, Claartje A Meddens, Maria J E Koster, et al.
EMBO Reports|July 17, 2010
The structural plasticity of SCA7 domains defines their differential nucleosome-binding propertiesJacques Bonnet, Ying-Hui Wang, Gianpiero Spedale, et al.
Human Mutation|February 9, 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screeningDouglas O S de Faria, Stijn L M In 't Groen, Marianne Hoogeveen-Westerveld, et al.
Bone|November 1, 2020
Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectivesEsmee Oussoren, Margreet A E M Wagenmakers, Bianca Link, et al.
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