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Author/Creator Boumeester, Valerie

1. Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation. Issue 17 (2nd June 2021)

Authors:
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
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 17(2021)
Page Start:
1632
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. (January 2022)

Authors:
Skorvanek, Matej; Rektorova, Irena; Mandemakers, Wim; Wagner, Matias; Steinfeld, Robert; Orec, Laura; Han, Vladimir; Pavelekova, Petra; Lackova, Alexandra; Kulcsarova, Kristina; Ostrozovicova, Miriam; Gdovinova, Zuzana; Plecko, Barbara; Brunet, Theresa; Berutti, Riccardo; Kuipers, Demy J.S.; Boum...
Journal:
Parkinsonism & related disorders
Issue:
Volume 94(2022)
Page Start:
54
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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