Rob Willemsen - Publications, H-index & Citations

Rob Willemsen

Erasmus University Rotterdam

76H指数

291论文数

1.9W被引数

收录论文 117

发表时间

Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome 未甲基化全突变携带者的转录组分析表明，TET3 参与 Fragile X 综合征中 FMR1 CGG 重复扩增的甲基化动态过程。

JOURNAL OF NEURODEVELOPMENTAL DISORDERS

IF4

2025-04-26

OAAI

Farmiloe, Grace; Bejczy, Veronika; Tabolacci, Elisabetta; Willemsen, Rob; Jacobs, Frank

Disruption of TUFT1, a DesmosomeAssociated Protein, Causes Skin Fragilit Woolly Hair, and Palmoplantar Keratoderma

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2024-02-01

OAAI

Verkerk, Annemieke J. M. H.; Andrei, Daniela; Vermeer, Mathilde C. S. C.; Kramer, Duco; Schouten, Marloes; Arp, Pascal; Verlouw, Joost A. M.; Pas, Hendri H.; Meijer, Hillegonda J.; van der Molen, Marije; Oberdorf-Maass, Silke; Nijenhuis, Miranda; Romero-Herrera, Pedro H.; Hoes, Martijn F.; Bremer, Jeroen; Slotman, Johan A.; van den Akker, Peter C.; Diercks, Gilles F. H.; Giepmans, Ben N. G.; Stoop, Hans; Saris, Jasper J.; van den Ouweland, Ans M. W.; Willemsen, Rob; Hublin, Jean -Jacques; Dean, M. Christopher; Hoogeboom, A. Jeannette M.; Sillje, Herman H. W.; Uitterlinden, Andre G.; van der Meer, Peter; Bolling, Maria C.

Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization

JCI INSIGHT

IF6.1

2023-09-08

OAAI

Ruijmbeek, Claudine W. B.; Housley, Filomena; Idrees, Hafiza; Housley, Michael P.; Pestel, Jenny; Keller, Leonie; Lai, Jason K. H.; Linde, Herma C. van der; Willemsen, Rob; Piesker, Janett; Al-Hassnan, Zuhair N.; Almesned, Abdulrahman; Dalinghaus, Michiel; van den Bersselaar, Lisa M.; van Slegtenhorst, Marjon A.; Tessadori, Federico; Bakkers, Jeroen; van Ham, Tjakko J.; Stainier, Didier Y. R.; Verhagen, Judith M. A.; Reischauer, Sven

Exposure to cyan or red light inhibits the axial growth of zebrafish eyes

EXPERIMENTAL EYE RESEARCH

IF2.7

2023-05-01

OAAI

Quint, Wim H.; van Buuren, Renee; Kokke, Nina C. C. J.; Meester-Smoor, Magda A.; Willemsen, Rob; Broersma, Remy; Iglesias, Adriana I.; Lucassen, Marcel; Klaver, Caroline C. W.

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

ACTA NEUROPATHOLOGICA

IF9.3

2023-04-29

OAAI

Deng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kuhn, Nikolas A.; van der Linde, Herma C.; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T.; Ruijter, George J. G.; Luetjohann, Dieter; Jacobs, Edwin H.; Houlden, Henry; Pagnamenta, Alistair T.; Metcalfe, Kay; Jackson, Adam; Banka, Siddharth; De Simone, Lenika; Schwaede, Abigail; Kuntz, Nancy; Palculict, Timothy Blake; Abbas, Safdar; Umair, Muhammad; AlMuhaizea, Mohammed; Colak, Dilek; AlQudairy, Hanan; Alsagob, Maysoon; Pereira, Catarina; Trunzo, Roberta; Karageorgou, Vasiliki; Bertoli-Avella, Aida M.; Bauer, Peter; Bouman, Arjan; Hoefsloot, Lies H.; van Ham, Tjakko J.; Issa, Mahmoud; Zaki, Maha S.; Gleeson, Joseph G.; Willemsen, Rob; Kaya, Namik; Arold, Stefan T.; Maroofian, Reza; Sanderson, Leslie E.; Barakat, Tahsin Stefan

Transport of fragile X mental retardation protein via granules in neurites of PC12 cells

MOLECULAR AND CELLULAR BIOLOGY

IF2.7

2023-03-28

135

OAAI

Otero, YD; Severijnen, LA; van Cappellen, G; Schrier, M; Oostra, B; Willemsen, R

Post-GWAS screening of candidate genes for refractive error in mutant zebrafish models

SCIENTIFIC REPORTS

IF3.9

2023-02-03

OAAI

Quint, Wim H.; Tadema, Kirke C. D.; Kokke, Nina C. C. J.; Meester-Smoor, Magda A.; Miller, Adam C.; Willemsen, Rob; Klaver, Caroline C. W.; Iglesias, Adriana I.

Mouse models of fragile X-related disorders

DISEASE MODELS & MECHANISMS

IF3.3

2023-01-24

OAAI

Willemsen, Rob; Kooy, R. Frank

Allopregnanolone Improves Locomotor Activity and Arousal in the Aged CGG Knock-in Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome

FRONTIERS IN NEUROSCIENCE

IF3.2

2021-12-03

OAAI

Schwartzer, Jared J.; Garcia-Arocena, Dolores; Jamal, Amanda; Izadi, Ali; Willemsen, Rob; Berman, Robert F.

Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos

DISEASE MODELS & MECHANISMS

IF3.3

2021-12-01

OAAI

Riemslagh, Frederike W.; Verhagen, Rob F. M.; van der Toorn, Esmay C.; Smits, Daphne J.; Quint, Wim H.; van der Linde, Herma C.; van Ham, Tjakko J.; Willemsen, Rob

Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafish

COMMUNICATIONS BIOLOGY

IF5.1

2021-06-03

OAAI

Quint, Wim H.; Tadema, Kirke C. D.; de Vrieze, Erik; Lukowicz, Rachel M.; Broekman, Sanne; Winkelman, Beerend H. J.; Hoevenaars, Melanie; de Gruiter, H. Martijn; van Wijk, Erwin; Schaeffel, Frank; Meester-Smoor, Magda; Miller, Adam C.; Willemsen, Rob; Klaver, Caroline C. W.; Iglesias, Adriana I.

Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation

HUMAN MOLECULAR GENETICS

IF3.2

2021-06-02

OAAI

Haify, Saif N.; Buijsen, Ronald A. M.; Verwegen, Lucas; Severijnen, Lies-Anne W. F. M.; de Boer, Helen; Boumeester, Valerie; Monshouwer, Roos; Yang, Wang-Yong; Cameron, Michael D.; Willemsen, Rob; Disney, Matthew D.; Hukema, Renate K.

Editorial: Proceedings of the Fourth International Conference of the FMR1 Premutation: Basic Mechanisms, Clinical Involvement and Therapy 社论: 第四届FMR1前突变国际会议论文集: 基本机制，临床参与和治疗

FRONTIERS IN MOLECULAR BIOSCIENCES

IF4

2021-04-27

OAAI

Usdin, Karen; Rodriguez-Revenga, Laia; Willemsen, Rob; Hukema, Renate; Giulivi, Cecilia

Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice

DISEASE MODELS & MECHANISMS

IF3.3

2021-02-16

OAAI

Riemslagh, Frederike W.; van der Toorn, Esmay C.; Verhagen, Rob F. M.; Maas, Alex; Bosman, Laurens W. J.; Hukema, Renate K.; Willemsen, Rob

Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms

BRAIN COMMUNICATIONS

IF4.5

2021-01-27

OAAI

Dijkstra, Anke A.; Haify, Saif N.; Verwey, Niek A.; Prins, Niels D.; van der Toorn, Esmay C.; Rozemuller, Annemieke J. M.; Bugiani, Marianna; den Dunnen, Wilfred F. A.; Todd, Peter K.; Charlet-Berguerand, Nicolas; Willemsen, Rob; Hukema, Renate K.; Hoozemans, Jeroen J. M.

Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive Aggregates

FRONTIERS IN MOLECULAR BIOSCIENCES

IF4

2020-12-14

OAAI

Haify, Saif N.; Mankoe, Ruchira S. D.; Boumeester, Valerie; van der Toorn, Esmay C.; Verhagen, Rob F. M.; Willemsen, Rob; Hukema, Renate K.; Bosman, Laurens W. J.

Identification of antiparkinsonian drugs in the 6-hydroxydopamine zebrafish model

PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR

IF2.5

2020-02-01

PREAI

Vaz, Rita L.; Sousa, Sara; Chapela, Diana; van der Linde, Hernia C.; Willemsen, Rob; Correia, Ana D.; Outeiro, Tiago F.; Afonso, Nuno D.

Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS

MOLECULAR THERAPY-NUCLEIC ACIDS

IF0

2019-12-01

OAAI

Drozd, Malgorzata; Delhaye, Sebastien; Maurin, Thomas; Castagnola, Sara; Grossi, Mauro; Brau, Frederic; Jarjat, Marielle; Willemsen, Rob; Capovilla, Maria; Hukema, Renate K.; Lalli, Enzo; Bardoni, Barbara

HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis 在C9ORF72-linked额颞痴呆和肌萎缩侧索硬化中，HR23B病理学优先与p62，pTDP-43和poly-ga共定位

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2019-03-13

OAAI

Riemslagh, Frederike W.; Lans, Hannes; Seelaar, Harro; Severijnen, Lies-Anne W. F. M.; Melhem, Shamiram; Vermeulen, Wim; Aronica, Eleonora; Pasterkamp, R. Jeroen; van Swieten, John C.; Willemsen, Rob

Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2019-02-26

OAAI

Wenzel, H. Juergen; Murray, Karl D.; Haify, Saif N.; Hunsaker, Michael R.; Schwartzer, Jared J.; Kim, Kyoungmi; La Spada, Albert R.; Sopher, Bryce L.; Hagerman, Paul J.; Raske, Christopher; Severijnen, Lies-Anne W. F. M.; Willemsen, Rob; Hukema, Renate K.; Berman, Robert F.

研究方向