Valerie Boumeester

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia

Matěj Škorvánek, Irena Rektorová, Wim Mandemakers et al. · Parkinsonism & Related Disorders · 2021 · 28 citations · Full text

Experimental Neuropathology, Pathology, Degenerative Disease +4

<i>PTPA</i> variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

Christina Fevga, Christelle Tesson, Ana Carreras Mascaro et al. · Brain · 2022 · 27 citations · Full text

LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson’s disease and dementia with Lewy bodies

Martyna M. Grochowska, Ana Carreras Mascaro, Valerie Boumeester et al. · Acta Neuropathologica · 2021 · 24 citations · Full text

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

Saif N. Haify, Ronald A.M. Buijsen, Lucas Verwegen et al. · Human Molecular Genetics · 2021 · 14 citations · Full text

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

Saif N. Haify, Ruchira S. D. Mankoe, Valerie Boumeester et al. · Frontiers in Molecular Biosciences · 2020 · 12 citations · Full text