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Rob Willemsen

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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TOP 3
Zheng Ping-Pin; Severijnen Lies-Anne; Willemsen Rob; Kros Johan M
Circulation status of subintestinal vessels is a sensitive parameter for monitoring suboptimal systemic circulation in experimental zebrafish embryos.
Brugman Sylvia; Liu Kit-Yeng; Lindenbergh-Kortleve Dicky; Samsom Janneke N; Furuta Glenn T; Renshaw Stephen A; Willemsen Rob; Nieuwenhuis Edward E S
Oxazolone-induced enterocolitis in zebrafish depends on the composition of the intestinal microbiota.
Zheng Ping-Pin; Severijnen Lies-Anne; Willemsen Rob; Kros Johan M
Images in cardiovascular medicine. Functional cardiac phenotypes in zebrafish caldesmon morphants: a digital motion analysis.

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All Publications

2009: Zheng Ping-Pin; Severijnen Lies-Anne; Willemsen Rob; Kros Johan M
Circulation status of subintestinal vessels is a sensitive parameter for monitoring suboptimal systemic circulation in experimental zebrafish embryos.
Cell cycle (Georgetown, Tex.) 2009;8(22):3782-3.
2009: Brugman Sylvia; Liu Kit-Yeng; Lindenbergh-Kortleve Dicky; Samsom Janneke N; Furuta Glenn T; Renshaw Stephen A; Willemsen Rob; Nieuwenhuis Edward E S
Oxazolone-induced enterocolitis in zebrafish depends on the composition of the intestinal microbiota.
Gastroenterology 2009;137(5):1757-67.e1.
2009: Zheng Ping-Pin; Severijnen Lies-Anne; Willemsen Rob; Kros Johan M
Images in cardiovascular medicine. Functional cardiac phenotypes in zebrafish caldesmon morphants: a digital motion analysis.
Circulation 2009;120(17):e145-6.
2009: Brouwer J R; Willemsen R; Oostra B A
The FMR1 gene and fragile X-associated tremor/ataxia syndrome.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(6):782-98.
2009: Van't Padje Sandra; Chaudhry Bill; Severijnen Lies-Anne; van der Linde Herma C; Mientjes Edwin J; Oostra Ben A; Willemsen Rob
Reduction in fragile X related 1 protein causes cardiomyopathy and muscular dystrophy in zebrafish.
The Journal of experimental biology 2009;212(Pt 16):2564-70.
2009: Levenga Josien; Buijsen Ronald A M; Rifé Maria; Moine Hervé; Nelson David L; Oostra Ben A; Willemsen Rob; de Vrij Femke M S
Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons.
Neurobiology of disease 2009;35(2):241-50.
2009: Verkerk Annemieke J M H; Schot Rachel; Dumee Belinda; Schellekens Karlijn; Swagemakers Sigrid; Bertoli-Avella Aida M; Lequin Maarten H; Dudink Jeroen; Govaert Paul; van Zwol A L; Hirst Jennifer; Wessels Marja W; Catsman-Berrevoets Coriene; Verheijen Frans W; de Graaff Esther; de Coo Irenaeus F M; Kros Johan M; Willemsen Rob; Willems Patrick J; van der Spek Peter J; Mancini Grazia M S
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
American journal of human genetics 2009;85(1):40-52.
2009: Oostra Ben A; Willemsen Rob
FMR1: a gene with three faces.
Biochimica et biophysica acta 2009;1790(6):467-77.
2009: Zheng Ping-Pin; Severijnen Lies-Anne; Willemsen Rob; Kros Johan M
Haemoglobin staining for in vivo portraying of functional vasculature in experimental zebrafish embryos.
Biochemical and biophysical research communications 2009;380(4):823-4.
2009: Zheng Ping-Pin; Severijnen Lies-Anne; van der Weiden Marcel; Willemsen Rob; Kros Johan M
Cell proliferation and migration are mutually exclusive cellular phenomena in vivo: implications for cancer therapeutic strategies.
Cell cycle (Georgetown, Tex.) 2009;8(6):950-1.
2009: D'Hulst Charlotte; Heulens Inge; Brouwer Judith R; Willemsen Rob; De Geest Natalie; Reeve Simon P; De Deyn Peter P; Hassan Bassem A; Kooy R Frank
Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS).
Brain research 2009;1253():176-83.
2009: Zheng Ping-Pin; Severijnen Lies-Anne; van der Weiden Marcel; Willemsen Rob; Kros Johan M
A crucial role of caldesmon in vascular development in vivo.
Cardiovascular research 2009;81(2):362-9.
2009: Zheng Ping-Pin; Severijnen Lies-Anne; Willemsen Rob; Kros Johan M
Reduction of caldesmon expression induces apoptosis and causes disassembly of the sarcomeric protein complex in cardiomyocytes in vivo.
Cell cycle (Georgetown, Tex.) 2009;8(2):325-6.
2009: Zheng Ping-Pin; Severijnen Lies-Anne; Willemsen Rob; Kros Johan M
Caldesmon is essential for cardiac morphogenesis and function: in vivo study using a zebrafish model.
Biochemical and biophysical research communications 2009;378(1):37-40.
2008: Cavallaro Sebastiano; Paratore Sabrina; Fradale Francesco; de Vrij Femke M S; Willemsen Rob; Oostra Ben A
Genes and pathways differentially expressed in the brains of Fxr2 knockout mice.
Neurobiology of disease 2008;32(3):510-20.
2008: Smit A E; van der Geest J N; Vellema M; Koekkoek S K E; Willemsen R; Govaerts L C P; Oostra B A; De Zeeuw C I; VanderWerf F
Savings and extinction of conditioned eyeblink responses in fragile X syndrome.
Genes, brain, and behavior 2008;7(7):770-7.
2008: de Vrij Femke M S; Levenga Josien; van der Linde Herma C; Koekkoek Sebastiaan K; De Zeeuw Chris I; Nelson David L; Oostra Ben A; Willemsen Rob
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice.
Neurobiology of disease 2008;31(1):127-32.
2008: Brouwer J R; Severijnen E; de Jong F H; Hessl D; Hagerman R J; Oostra B A; Willemsen R
Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome.
Psychoneuroendocrinology 2008;33(6):863-73.
2007: Govaerts L C P; Smit A E; Saris J J; VanderWerf F; Willemsen R; Bakker C E; De Zeeuw C I; Oostra B A
Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene.
Clinical genetics 2007;72(2):138-44.
2007: Seelaar Harro; Schelhaas H Jurgen; Azmani Asma; Küsters Benno; Rosso Sonia; Majoor-Krakauer Danielle; de Rijik Maarten C; Rizzu Patrizia; ten Brummelhuis Ming; van Doorn Pieter A; Kamphorst Wouter; Willemsen Rob; van Swieten John C
TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations.
Brain : a journal of neurology 2007;130(Pt 5):1375-85.
2007: Burghoorn Jan; Dekkers Martijn P J; Rademakers Suzanne; de Jong Ton; Willemsen Rob; Jansen Gert
Mutation of the MAP kinase DYF-5 affects docking and undocking of kinesin-2 motors and reduces their speed in the cilia of Caenorhabditis elegans.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(17):7157-62.
2007: van Swieten John C; Bronner Iraad F; Azmani Asma; Severijnen Lies-Anne; Kamphorst Wouter; Ravid Rivka; Rizzu Patrizia; Willemsen Rob; Heutink Peter
The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo.
Journal of neuropathology and experimental neurology 2007;66(1):17-25.
2007: Brouwer J R; Mientjes E J; Bakker C E; Nieuwenhuizen I M; Severijnen L A; Van der Linde H C; Nelson D L; Oostra B A; Willemsen R
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.
Experimental cell research 2007;313(2):244-53.
2006: Simonis Marieke; Klous Petra; Splinter Erik; Moshkin Yuri; Willemsen Rob; de Wit Elzo; van Steensel Bas; de Laat Wouter
Nuclear organization of active and inactive chromatin domains uncovered by chromosome conformation capture-on-chip (4C).
Nature genetics 2006;38(11):1348-54.
2006: Bergink Steven; Severijnen Lies-Anne; Wijgers Nils; Sugasawa Kaoru; Yousaf Humaira; Kros Johan M; van Swieten John; Oostra Ben A; Hoeijmakers Jan H; Vermeulen Wim; Willemsen Rob
The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair.
Neurobiology of disease 2006;23(3):708-16.
2006: Mientjes E J; Nieuwenhuizen I; Kirkpatrick L; Zu T; Hoogeveen-Westerveld M; Severijnen L; Rifé M; Willemsen R; Nelson D L; Oostra B A
The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo.
Neurobiology of disease 2006;21(3):549-55.
2006: Gantois Ilse; Vandesompele Jo; Speleman Frank; Reyniers Edwin; D'Hooge Rudi; Severijnen Lies-Anne; Willemsen Rob; Tassone Flora; Kooy R Frank
Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model.
Neurobiology of disease 2006;21(2):346-57.
2006: Reis Surya A; Oostra Ben A; Willemsen Rob
Isolation of mouse neuritic mRNAs.
Journal of molecular histology 2006;37(1-2):79-86.
2005: Bronner I F; ter Meulen B C; Azmani A; Severijnen L A; Willemsen R; Kamphorst W; Ravid R; Heutink P; van Swieten J C
Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology.
Brain : a journal of neurology 2005;128(Pt 11):2645-53.
2005: Willemsen Rob; Mientjes Edwin; Oostra Ben A
FXTAS: a progressive neurologic syndrome associated with Fragile X premutation.
Current neurology and neuroscience reports 2005;5(5):405-10.
2005: Koekkoek S K E; Yamaguchi K; Milojkovic B A; Dortland B R; Ruigrok T J H; Maex R; De Graaf W; Smit A E; VanderWerf F; Bakker C E; Willemsen R; Ikeda T; Kakizawa S; Onodera K; Nelson D L; Mientjes E; Joosten M; De Schutter E; Oostra B A; Ito M; De Zeeuw C I
Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome.
Neuron 2005;47(3):339-52.
2005: Van Dam Debby; Errijgers Vanessa; Kooy R Frank; Willemsen Rob; Mientjes Edwin; Oostra Ben A; De Deyn Peter Paul
Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS).
Behavioural brain research 2005;162(2):233-9.
2005: van 't Padje Sandra; Engels Bart; Blonden Lau; Severijnen Lies-Anne; Verheijen Frans; Oostra Ben A; Willemsen Rob
Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene.
Development genes and evolution 2005;215(4):198-206.
2005: Blonden Lau; van 't Padje Sandra; Severijnen Lies-Anne; Destree Olivier; Oostra Ben A; Willemsen Rob
Two members of the Fxr gene family, Fmr1 and Fxr1, are differentially expressed in Xenopus tropicalis.
The International journal of developmental biology 2005;49(4):437-41.
2004: Schrier Mariëtte; Severijnen Lies-Anne; Reis Surya; Rife Maria; van't Padje Sandra; van Cappellen Gert; Oostra Ben A; Willemsen Rob
Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells.
Experimental neurology 2004;189(2):343-53.
2004: Clarke Nigel F; Mowat David; Kooy R Frank; Reyniers Edwin; Willemsen Rob
Fragile X syndrome phenotype with normal FMR1 gene studies.
American journal of medical genetics. Part A 2004;129A(3):326-8.
2004: Engels Bart; van 't Padje Sandra; Blonden Lau; Severijnen Lies-Anne; Oostra Ben A; Willemsen Rob
Characterization of Fxr1 in Danio rerio; a simple vertebrate model to study costamere development.
The Journal of experimental biology 2004;207(Pt 19):3329-38.
2004: Mientjes Edwin J; Willemsen Rob; Kirkpatrick Laura L; Nieuwenhuizen Ingeborg M; Hoogeveen-Westerveld Marianne; Verweij Marcel; Reis Surya; Bardoni Barbara; Hoogeveen Andre T; Oostra Ben A; Nelson David L
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo.
Human molecular genetics 2004;13(13):1291-302.
2004: Bard Martin P; Hegmans Joost P; Hemmes Annabrita; Luider Theo M; Willemsen Rob; Severijnen Lies-Anne A; van Meerbeeck Jan P; Burgers Sjaak A; Hoogsteden Henk C; Lambrecht Bart N
Proteomic analysis of exosomes isolated from human malignant pleural effusions.
American journal of respiratory cell and molecular biology 2004;31(1):114-21.
2004: Reis Surya A; Willemsen Rob; van Unen Leontine; Hoogeveen Andre T; Oostra Ben A
Prospects of TAT-mediated protein therapy for fragile X syndrome.
Journal of molecular histology 2004;35(4):389-95.
2004: Rifé M; Nadal A; Milà M; Willemsen R
Immunohistochemical FMRP studies in a full mutated female fetus.
American journal of medical genetics. Part A 2004;124A(2):129-32.
2004: Willemsen Rob; Oostra Ben A; Bassell Gary J; Dictenberg Jason
The fragile X syndrome: from molecular genetics to neurobiology.
Mental retardation and developmental disabilities research reviews 2004;10(1):60-7.
2003: van Herpen Esther; Rosso Sonia M; Serverijnen Lies-Anne; Yoshida Hirotaka; Breedveld Guido; van de Graaf Raoul; Kamphorst Wouter; Ravid Rivka; Willemsen Rob; Dooijes Dennis; Majoor-Krakauer Daniëlle; Kros Johan M; Crowther R Anthony; Goedert Michel; Heutink Peter; van Swieten John C
Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.
Annals of neurology 2003;54(5):573-81.
2003: Oostra Ben A; Willemsen Rob
A fragile balance: FMR1 expression levels.
Human molecular genetics 2003;12 Spec No 2():R249-57.
2003: Bardoni Barbara; Willemsen Rob; Weiler Ivan Jeanne; Schenck Annette; Severijnen Lies-Anne; Hindelang Colette; Lalli Enzo; Mandel Jean-Louis
NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes.
Experimental cell research 2003;289(1):95-107.
2003: de Vries B B A; Severijnen L-A; Jacobs A; Olmer R; Halley D J J; Oostra B A; Willemsen R
FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics.
Journal of medical genetics 2003;40(7):535-9.
2003: Willemsen R; Smits A; Severijnen L-A; Jansen M; Jacobs A; De Bruyn E; Oostra B
Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis.
Journal of medical genetics 2003;40(5):377-9.
2003: Willemsen Rob; Hoogeveen-Westerveld Marianne; Reis Surya; Holstege Joan; Severijnen Lies-Anne W F M; Nieuwenhuizen Ingeborg M; Schrier Mariette; van Unen Leontine; Tassone Flora; Hoogeveen Andre T; Hagerman Paul J; Mientjes Edwin J; Oostra Ben A
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.
Human molecular genetics 2003;12(9):949-59.
2002: De Diego Otero Yolanda; Severijnen Lies-Anne; van Cappellen Gert; Schrier Mariëtte; Oostra Ben; Willemsen Rob
Transport of fragile X mental retardation protein via granules in neurites of PC12 cells.
Molecular and cellular biology 2002;22(23):8332-41.
2002: Willemsen Rob; Bontekoe Carola J M; Severijnen Lies-Anne; Oostra Ben A
Timing of the absence of FMR1 expression in full mutation chorionic villi.
Human genetics 2002;110(6):601-5.
2002: Hoogeveen André T; Willemsen Rob; Oostra Ben A
Fragile X syndrome, the Fragile X related proteins, and animal models.
Microscopy research and technique 2002;57(3):148-55.
2002: Rosso Sonia M; van Herpen Esther; Deelen Wout; Kamphorst Wouter; Severijnen Lies-Anne; Willemsen Rob; Ravid Rivka; Niermeijer Martinus F; Dooijes Dennis; Smith Michael J; Goedert Michel; Heutink Peter; van Swieten John C
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.
Annals of neurology 2002;51(3):373-6.
2002: Bontekoe Carola J M; McIlwain Kellie L; Nieuwenhuizen Ingeborg M; Yuva-Paylor Lisa A; Nellis Anna; Willemsen Rob; Fang Zhe; Kirkpatrick Laura; Bakker Cathy E; McAninch Robin; Cheng Ngan Ching; Merriweather Michelle; Hoogeveen Andre T; Nelson David; Paylor Richard; Oostra Ben A
Knockout mouse model for Fxr2: a model for mental retardation.
Human molecular genetics 2002;11(5):487-98.
2002: Oostra B A; Willemsen R
The X chromosome and fragile X mental retardation.
Cytogenetic and genome research 2002;99(1-4):257-64.
2001: Rosso S M; Kamphorst W; de Graaf B; Willemsen R; Ravid R; Niermeijer M F; Spillantini M G; Heutink P; van Swieten J C
Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.
Brain : a journal of neurology 2001;124(Pt 10):1948-57.
2001: Gantois I; Bakker C E; Reyniers E; Willemsen R; D'Hooge R; De Deyn P P; Oostra B A; Kooy R F
Restoring the phenotype of fragile X syndrome: insight from the mouse model.
Current molecular medicine 2001;1(4):447-55.
2001: Hoogenraad C C; Akhmanova A; Howell S A; Dortland B R; De Zeeuw C I; Willemsen R; Visser P; Grosveld F; Galjart N
Mammalian Golgi-associated Bicaudal-D2 functions in the dynein-dynactin pathway by interacting with these complexes.
The EMBO journal 2001;20(15):4041-54.
2001: Oostra B A; Willemsen R
Diagnostic tests for fragile X syndrome.
Expert review of molecular diagnostics 2001;1(2):226-32.
2000: Rizzu P; Joosse M; Ravid R; Hoogeveen A; Kamphorst W; van Swieten J C; Willemsen R; Heutink P
Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients.
Human molecular genetics 2000;9(20):3075-82.
2000: Tunçbilek E; Alikasifoglu M; Aktas D; Duman F; Yanik H; Anar B; Oostra B; Willemsen R
Screening for the fragile X syndrome among mentally retarded males by hair root analysis.
American journal of medical genetics 2000;95(2):105-7.
2000: Willemsen R; Olmer R; De Diego Otero Y; Oostra B A
Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype.
Journal of medical genetics 2000;37(8):603-4.
2000: Bakker C E; de Diego Otero Y; Bontekoe C; Raghoe P; Luteijn T; Hoogeveen A T; Oostra B A; Willemsen R
Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse.
Experimental cell research 2000;258(1):162-70.
2000: Kooy R F; Willemsen R; Oostra B A
Fragile X syndrome at the turn of the century.
Molecular medicine today 2000;6(5):193-8.
2000: Willemsen R; Oostra B A
FMRP detection assay for the diagnosis of the fragile X syndrome.
American journal of medical genetics 2000;97(3):183-8.
1999: Willemsen R; Anar B; De Diego Otero Y; de Vries B B; Hilhorst-Hofstee Y; Smits A; van Looveren E; Willems P J; Galjaard H; Oostra B A
Noninvasive test for fragile X syndrome, using hair root analysis.
American journal of human genetics 1999;65(1):98-103.
1999: Tamanini F; Bontekoe C; Bakker C E; van Unen L; Anar B; Willemsen R; Yoshida M; Galjaard H; Oostra B A; Hoogeveen A T
Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations.
Human molecular genetics 1999;8(5):863-9.
1999: Helderman-van den Enden A T; Maaswinkel-Mooij P D; Hoogendoorn E; Willemsen R; Maat-Kievit J A; Losekoot M; Oostra B A
Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities.
Journal of medical genetics 1999;36(3):253-7.
1999: de Crom R; van Haperen R; Janssens R; Visser P; Willemsen R; Grosveld F; van der Kamp A
Gp96/GRP94 is a putative high density lipoprotein-binding protein in liver.
Biochimica et biophysica acta 1999;1437(3):378-92.
1998: de Vries B B; Mohkamsing S; van den Ouweland A M; Halley D J; Niermeijer M F; Oostra B A; Willemsen R
Screening with the FMR1 protein test among mentally retarded males.
Human genetics 1998;103(4):520-2.
1998: Fransen E; D'Hooge R; Van Camp G; Verhoye M; Sijbers J; Reyniers E; Soriano P; Kamiguchi H; Willemsen R; Koekkoek S K; De Zeeuw C I; De Deyn P P; Van der Linden A; Lemmon V; Kooy R F; Willems P J
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.
Human molecular genetics 1998;7(6):999-1009.
1998: Sacchi N; Tamanini F; Willemsen R; Denis-Donini S; Campiglio S; Hoogeveen A T
Subcellular localization of the oncoprotein MTG8 (CDR/ETO) in neural cells.
Oncogene 1998;16(20):2609-15.
1997: Losekoot M; Hoogendoorn E; Olmer R; Jansen C C; Oosterwijk J C; van den Ouweland A M; Halley D J; Warren S T; Willemsen R; Oostra B A; Bakker E
Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.
Journal of medical genetics 1997;34(11):924-6.
1997: Bontekoe C J; de Graaff E; Nieuwenhuizen I M; Willemsen R; Oostra B A
FMR1 premutation allele (CGG)81 is stable in mice.
European journal of human genetics : EJHG 1997;5(5):293-8.
1997: Tamanini F; Willemsen R; van Unen L; Bontekoe C; Galjaard H; Oostra B A; Hoogeveen A T
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis.
Human molecular genetics 1997;6(8):1315-22.
1997: Willemsen R; Los F; Mohkamsing S; van den Ouweland A; Deelen W; Galjaard H; Oostra B
Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.
Journal of medical genetics 1997;34(3):250-1.
1997: Willemsen R; Smits A; Mohkamsing S; van Beerendonk H; de Haan A; de Vries B; van den Ouweland A; Sistermans E; Galjaard H; Oostra B A
Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.
Human genetics 1997;99(3):308-11.
1997: Malter H E; Iber J C; Willemsen R; de Graaff E; Tarleton J C; Leisti J; Warren S T; Oostra B A
Characterization of the full fragile X syndrome mutation in fetal gametes.
Nature genetics 1997;15(2):165-9.
1996: de Vries B B; Jansen C C; Duits A A; Verheij C; Willemsen R; van Hemel J O; van den Ouweland A M; Niermeijer M F; Oostra B A; Halley D J
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.
Journal of medical genetics 1996;33(12):1007-10.
1996: de Graaff E; de Vries B B; Willemsen R; van Hemel J O; Mohkamsing S; Oostra B A; van den Ouweland A M
The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.
American journal of medical genetics 1996;64(2):302-8.
1996: Willemsen R; Bontekoe C; Tamanini F; Galjaard H; Hoogeveen A; Oostra B
Association of FMRP with ribosomal precursor particles in the nucleolus.
Biochemical and biophysical research communications 1996;225(1):27-33.
1996: Keulemans J L; Reuser A J; Kroos M A; Willemsen R; Hermans M M; van den Ouweland A M; de Jong J G; Wevers R A; Renier W O; Schindler D; Coll M J; Chabas A; Sakuraba H; Suzuki Y; van Diggelen O P
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
Journal of medical genetics 1996;33(6):458-64.
1995: Bonten E J; Galjart N J; Willemsen R; Usmany M; Vlak J M; d'Azzo A
Lysosomal protective protein/cathepsin A. Role of the "linker" domain in catalytic activation.
The Journal of biological chemistry 1995;270(44):26441-5.
1995: de Graaff E; Willemsen R; Zhong N; de Die-Smulders C E; Brown W T; Freling G; Oostra B
Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.
American journal of human genetics 1995;57(3):609-18.
1995: Willemsen R; Tibbe J J; Kroos M A; Martin B M; Reuser A J; Ginns E I
A biochemical and immunocytochemical study on the targeting of alglucerase in murine liver.
The Histochemical journal 1995;27(8):639-46.
1995: Willemsen R; Mohkamsing S; de Vries B; Devys D; van den Ouweland A; Mandel J L; Galjaard H; Oostra B
Rapid antibody test for fragile X syndrome.
Lancet 1995;345(8958):1147-8.
1995: Verheij C; de Graaff E; Bakker C E; Willemsen R; Willems P J; Meijer N; Galjaard H; Reuser A J; Oostra B A; Hoogeveen A T
Characterization of FMR1 proteins isolated from different tissues.
Human molecular genetics 1995;4(5):895-901.
1995: Willemsen R; Tybulewicz V; Sidransky E; Eliason W K; Martin B M; LaMarca M E; Reuser A J; Tremblay M; Westphal H; Mulligan R C
A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse.
Molecular and chemical neuropathology / sponsored by the International Society for Neurochemistry and the World Federation of Neurology and research groups on neurochemistry and cerebrospinal fluid 1995;24(2-3):179-92.
1994: Hermans M M; De Graaff E; Kroos M A; Mohkamsing S; Eussen B J; Joosse M; Willemsen R; Kleijer W J; Oostra B A; Reuser A J
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.
Human molecular genetics 1994;3(12):2213-8.
1994: Poorthuis B J; Romme A E; Willemsen R; Wagemaker G
Bone marrow transplantation has a significant effect on enzyme levels and storage of glycosaminoglycans in tissues and in isolated hepatocytes of mucopolysaccharidosis type VII mice.
Pediatric research 1994;36(2):187-93.
1994: Reuser A J; Kroos M A; Visser W J; Willemsen R
Lysosomal storage diseases: cellular pathology, clinical and genetic heterogeneity, therapy.
Annales de biologie clinique 1994;52(10):721-8.
1993: Hoogeveen A T; Willemsen R; Meyer N; de Rooij K E; Roos R A; van Ommen G J; Galjaard H
Characterization and localization of the Huntington disease gene product.
Human molecular genetics 1993;2(12):2069-73.
1993: Willemsen R; van der Ploeg A T; Busch H F; Zondervan P E; Van Noorden C J; Reuser A J
Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II.
Ultrastructural pathology 1993;17(5):515-27.
1993: Verheij C; Bakker C E; de Graaff E; Keulemans J; Willemsen R; Verkerk A J; Galjaard H; Reuser A J; Hoogeveen A T; Oostra B A
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome.
Nature 1993;363(6431):722-4.
1993: Hermans M M; de Graaff E; Kroos M A; Wisselaar H A; Willemsen R; Oostra B A; Reuser A J
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.
The Biochemical journal 1993;289 ( Pt 3)():687-93.
1992: Morreau H; Galjart N J; Willemsen R; Gillemans N; Zhou X Y; d'Azzo A
Human lysosomal protective protein. Glycosylation, intracellular transport, and association with beta-galactosidase in the endoplasmic reticulum.
The Journal of biological chemistry 1992;267(25):17949-56.
1992: Tybulewicz V L; Tremblay M L; LaMarca M E; Willemsen R; Stubblefield B K; Winfield S; Zablocka B; Sidransky E; Martin B M; Huang S P
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.
Nature 1992;357(6377):407-10.
1991: Zhou X Y; Galjart N J; Willemsen R; Gillemans N; Galjaard H; d'Azzo A
A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.
The EMBO journal 1991;10(13):4041-8.
1991: Versnel M A; Claesson-Welsh L; Hammacher A; Bouts M J; van der Kwast T H; Eriksson A; Willemsen R; Weima S M; Hoogsteden H C; Hagemeijer A
Human malignant mesothelioma cell lines express PDGF beta-receptors whereas cultured normal mesothelial cells express predominantly PDGF alpha-receptors.
Oncogene 1991;6(11):2005-11.
1991: Willemsen R; Brünken R; Sorber C W; Hoogeveen A T; Wisselaar H A; Van Dongen J M; Reuser A J
A quantitative immunoelectronmicroscopic study on soluble, membrane-associated and membrane-bound lysosomal enzymes in human intestinal epithelial cells.
The Histochemical journal 1991;23(10):467-73.
1991: Galjart N J; Morreau H; Willemsen R; Gillemans N; Bonten E J; d'Azzo A
Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function.
The Journal of biological chemistry 1991;266(22):14754-62.
1991: Hoogeveen A T; Keulemans J; Willemsen R; Scholte B J; Bijman J; Edixhoven M J; De Jonge H R; Galjaard H
Immunological localization of cystic fibrosis candidate gene products.
Experimental cell research 1991;193(2):435-7.
1991: Van der Ploeg A T; Kroos M A; Willemsen R; Brons N H; Reuser A J
Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.
The Journal of clinical investigation 1991;87(2):513-8.
1990: Hoefsloot L H; Willemsen R; Kroos M A; Hoogeveen-Westerveld M; Hermans M M; Van der Ploeg A T; Oostra B A; Reuser A J
Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells.
The Biochemical journal 1990;272(2):485-92.
1990: van der Ploeg A T; van der Kraaij A M; Willemsen R; Kroos M A; Loonen M C; Koster J F; Reuser A J
Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II.
Pediatric research 1990;28(4):344-7.
1990: Willemsen R; Wisselaar H A; van der Ploeg A T
Plasmalemmal vesicles are involved in transendothelial transport of albumin, lysosomal enzymes and mannose 6-phosphate receptor fragments in capillary endothelium.
European journal of cell biology 1990;51(2):235-41.
1989: Morreau H; Galjart N J; Gillemans N; Willemsen R; van der Horst G T; d'Azzo A
Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein.
The Journal of biological chemistry 1989;264(34):20655-63.
1988: Willemsen R; van Dongen J M; Aerts J M; Schram A W; Tager J M; Goudsmit R; Reuser A J
An immunoelectron microscopic study of glucocerebrosidase in type 1 Gaucher's disease spleen.
Ultrastructural pathology 1988;12(5):471-8.
1988: Willemsen R; Kroos M; Hoogeveen A T; van Dongen J M; Parenti G; van der Loos C M; Reuser A J
Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: a comparative study with lysosomal enzymes and the mannose 6-phosphate receptor.
The Histochemical journal 1988;20(1):41-51.
1988: van Diggelen O P; Schindler D; Willemsen R; Boer M; Kleijer W J; Huijmans J G; Blom W; Galjaard H
alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.
Journal of inherited metabolic disease 1988;11(4):349-57.
1987: Reuser A J; Kroos M; Willemsen R; Swallow D; Tager J M; Galjaard H
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.
The Journal of clinical investigation 1987;79(6):1689-99.
1987: Parenti G; Willemsen R; Hoogeveen A T; Verleun-Mooyman M; Van Dongen J M; Galjaard H
Immunocytochemical localization of lysosomal acid phosphatase in normal and "I-cell" fibroblasts.
European journal of cell biology 1987;43(1):121-7.
1987: Willemsen R; van Dongen J M; Ginns E I; Sips H J; Schram A W; Tager J M; Barranger J A; Reuser A J
Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry.
Journal of neurology 1987;234(1):44-51.
1987: Galjaard H; Willemsen R; Hoogeveen A T; Mancini G M; Palmeri S; Verheijen F W; D'Azzo A
Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency.
Enzyme 1987;38(1-4):132-43.
1986: Willemsen R; Hoogeveen A T; Sips H J; van Dongen J M; Galjaard H
Immunoelectron microscopical localization of lysosomal beta-galactosidase and its precursor forms in normal and mutant human fibroblasts.
European journal of cell biology 1986;40(1):9-15.
1985: van Dongen J M; Willemsen R; Ginns E I; Sips H J; Tager J M; Barranger J A; Reuser A J
The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study.
European journal of cell biology 1985;39(1):179-89.
1985: Sips H J; Claass A H; van Dongen J M; Willemsen R; Hoogeveen A T; Galjaard H; Sinaasappel M; Hauri H P; Sterchi E E
Sucrase-isomaltase and cystic fibrosis.
Journal of inherited metabolic disease 1985;8(4):163-8.

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