Dopaminergic Neuronal Loss and Dopamine-Dependent Locomotor Defects in Fbxo7-Deficient Zebrafish

por Zhao, Tianna, Zondervan-van der Linde, Herma, Severijnen, Lies-Anne, Oostra, Ben A., Willemsen, Rob, Bonifati, Vincenzo
Publicado 2012

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

por Buijsen, Ronald AM, Sellier, Chantal, Severijnen, Lies-Anne WFM, Oulad-Abdelghani, Mustapha, Verhagen, Rob FM, Berman, Robert F, Charlet-Berguerand, Nicolas, Willemsen, Rob, Hukema, Renate K
Publicado 2014

HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis

por 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
Publicado 2019

A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

por Hukema, Renate K, Riemslagh, Fréderike W, Melhem, Shamiram, van der Linde, Herma C, Severijnen, Lies-Anne WFM, Edbauer, Dieter, Maas, Alex, Charlet-Berguerand, Nicolas, Willemsen, Rob, van Swieten, John C
Publicado 2014

Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15)

por Zhao, Tianna, De Graaff, Esther, Breedveld, Guido J., Loda, Agnese, Severijnen, Lies-Anne, Wouters, Cokkie H., Verheijen, Frans W., Dekker, Marieke C. J., Montagna, Pasquale, Willemsen, Rob, Oostra, Ben A., Bonifati, Vincenzo
Publicado 2011

Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

por Hukema, Renate K., Riemslagh, Fréderike W., Melhem, Shamiram, van der Linde, Herma C., Severijnen, Lies-Anne W. F. M., Edbauer, Dieter, Maas, Alex, Charlet-Berguerand, Nicolas, Willemsen, Rob, van Swieten, John C.
Publicado 2016

An Integrative Study of Protein-RNA Condensates Identifies Scaffolding RNAs and Reveals Players in Fragile X-Associated Tremor/Ataxia Syndrome

por Cid-Samper, Fernando, Gelabert-Baldrich, Mariona, Lang, Benjamin, Lorenzo-Gotor, Nieves, Ponti, Riccardo Delli, Severijnen, Lies-Anne W.F.M., Bolognesi, Benedetta, Gelpi, Ellen, Hukema, Renate K., Botta-Orfila, Teresa, Tartaglia, Gian Gaetano
Publicado 2018

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

por 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
Publicado 2021

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 pa...

por Wenzel, H. Jürgen, 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.
Publicado 2019