R. Willemsen

发表

FMRP expression as a potential prognostic indicator in fragile X syndrome.

B. Oostra, A. Taylor, R. Willemsen, 1999, American journal of medical genetics.

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.

J Sijbers, G Van Camp, E Fransen, 1998, Human molecular genetics.

Deletion of FMR1 in Purkinje Cells Enhances Parallel Fiber LTD, Enlarges Spines, and Attenuates Cerebellar Eyelid Conditioning in Fragile X Syndrome

E. De Schutter, C. I. De Zeeuw, B. R. Dortland, 2005, Neuron.

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

D. Nelson, B. Oostra, R. Willemsen, 2006, Neurobiology of Disease.

Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities

B. Oostra, M. Losekoot, R. Willemsen, 1999, Journal of medical genetics.

Normal phenotype in two brothers with a full FMR1 mutation.

H. Smeets, B. Oostra, J. Oosterwijk, 1995, Human molecular genetics.

Members of the fragile X gene family exhibit genetic and phenotypic interaction in mammals

D. Nelson, E. Klann, J. Botas, 2006, International Journal of Developmental Neuroscience.

The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice

S. Koekkoek, A. Cupido, C. D. De Zeeuw, 2012, Genes, brain, and behavior.

Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.

A. Reuser, M. Kroos, N. Brons, 1991, The Journal of clinical investigation.

Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II.

C. V. van Noorden, P. Zondervan, A. Reuser, 1993, Ultrastructural pathology.

Introduction of a FMR1 transgene in the fragile X knockout mouse

R. D'Hooge, F. Tamanini, B. Oostra, 2000 .

Rat Heart Perfusion as Model System for Enzyme Replacement Therapy in Glycogenosis Type II

A. Reuser, M. Kroos, R. Willemsen, 1990, Pediatric Research.

The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

B. Oostra, A. Reuser, M. Kroos, 1993, The Biochemical journal.

Clinical Diversity in Lysosomal Storage Disorders: Molecular and Cellular Aspects

B. Oostra, A. Reuser, M. Kroos, 1988 .

Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.

D. Swallow, H. Galjaard, A. Reuser, 1987, The Journal of clinical investigation.

Restoring the phenotype of fragile X syndrome: insight from the mouse model.

R. D'Hooge, B. Oostra, R. Kooy, 2001, Current molecular medicine.

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

A. V. D. van den Ouweland, D. Schindler, R. Wevers, 1996, Journal of medical genetics.

Characterization of FMR1 proteins isolated from different tissues.

B. Oostra, H. Galjaard, R. Willemsen, 1995, Human molecular genetics.

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

E. Ginns, R. Mulligan, B. Martin, 1992, Nature.

Characterization of the full fragile X syndrome mutation in fetal gametes

S. Warren, B. Oostra, E. Graaff, 1997, Nature Genetics.

FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics

B. D. de Vries, B. Oostra, D. Halley, 2003, Journal of medical genetics.

The X chromosome and fragile X mental retardation

B. Oostra, R. Willemsen, B. Oostra, 2002, Cytogenetic and Genome Research.

FMRP detection assay for the diagnosis of the fragile X syndrome.

R. Willemsen, B. Oostra, 2000, American journal of medical genetics.

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

B. D. de Vries, A. V. D. van den Ouweland, B. Oostra, 1996, Journal of medical genetics.

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

W. Brown, B. Oostra, E. Graaff, 1995, American journal of human genetics.

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

Erik Sistermans, B. D. de Vries, A. V. D. van den Ouweland, 1997, Human Genetics.

The FMR1 gene and fragile X‐associated tremor/ataxia syndrome

J. Brouwer, R. Willemsen, B. Oostra, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

D. Nelson, B. Oostra, R. Willemsen, 2007, Experimental cell research.

In vitro reactivation of the FMR1 gene involved in fragile X syndrome.

B. Oostra, G. Neri, R. Willemsen, 1998, Human molecular genetics.

Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells.

L. Hoefsloot, B. Oostra, A. Reuser, 1990, The Biochemical journal.

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

S. Warren, A. V. D. van den Ouweland, B. Oostra, 1997, Journal of medical genetics.

Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations.

F. Tamanini, B. Oostra, M. Yoshida, 1999, Human molecular genetics.

Genes, pathways, and animal models in primary open-angle glaucoma

Adriana I. Iglesias, C. Klaver, C. Duijn, 2015, Eye.

# 2008 The Authors Journal compilation # 2008 Blackwell Publishing Ltd/International Behavioural and Neural Genetics Society

C. I. Zeeuw, S. Koekkoek, F. Vanderwerf, 2022 .

The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

B. Oostra, A. Reuser, M. Joosse, 1994, Human molecular genetics.

A fragile X case with an amplification/deletion mosaic pattern

R. Willemsen, B. Oostra, Y. de Diego, 2000, Human Genetics.

Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene

F. Vanderwerf, C. D. De Zeeuw, R. Willemsen, 2007, Clinical genetics.

CGG repeat in the FMR1 gene: size matters

R. Willemsen, R. Willemsen, BA Oostra, 2011, Clinical genetics.

FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics.

B. D. de Vries, D. Halley, L. Severijnen, 2003, Journal of medical genetics.

CGG repeat in the FMR1 gene: size matters

R. Willemsen, J. Levenga, B. Oostra, 2011, Clinical genetics.

A fragile X case with an amplification/deletion mosaic pattern.

R. Willemsen, D. G. Arocena, Y. D. Diego, 2000 .