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PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Brain. 2023 Apr 19;146(4):1496-1510. doi: 10.1093/brain/awac326.
Brain. 2023.
PMID: 36073231
Free PMC article.
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R.
Skorvanek M, et al. Among authors: boumeester v.
Parkinsonism Relat Disord. 2022 Jan;94:54-61. doi: 10.1016/j.parkreldis.2021.11.030. Epub 2021 Dec 2.
Parkinsonism Relat Disord. 2022.
PMID: 34890876
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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.
Grochowska MM, Carreras Mascaro A, Boumeester V, Natale D, Breedveld GJ, Geut H, van Cappellen WA, Boon AJW, Kievit AJA, Sammler E; Netherlands Brain Bank; Parchi P, Cortelli P, Alessi DR, van de Berg WDJ, Bonifati V, Mandemakers W.
Grochowska MM, et al. Among authors: boumeester v.
Acta Neuropathol. 2021 Jul;142(1):117-137. doi: 10.1007/s00401-021-02313-3. Epub 2021 Apr 28.
Acta Neuropathol. 2021.
PMID: 33913039
Free PMC article.
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Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive Aggregates.
Haify SN, Mankoe RSD, Boumeester V, van der Toorn EC, Verhagen RFM, Willemsen R, Hukema RK, Bosman LWJ.
Haify SN, et al. Among authors: boumeester v.
Front Mol Biosci. 2020 Dec 14;7:599101. doi: 10.3389/fmolb.2020.599101. eCollection 2020.
Front Mol Biosci. 2020.
PMID: 33381520
Free PMC article.
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Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation.
Haify SN, Buijsen RAM, Verwegen L, Severijnen LWFM, de Boer H, Boumeester V, Monshouwer R, Yang WY, Cameron MD, Willemsen R, Disney MD, Hukema RK.
Haify SN, et al. Among authors: boumeester v.
Hum Mol Genet. 2021 Aug 12;30(17):1632-1648. doi: 10.1093/hmg/ddab143.
Hum Mol Genet. 2021.
PMID: 34077515
Free PMC article.
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LRP10 and α-synuclein transmission in Lewy body diseases.
Carreras Mascaro A, Grochowska MM, Boumeester V, Dits NFJ, Bilgiҫ EN, Breedveld GJ, Vergouw L, de Jong FJ, van Royen ME, Bonifati V, Mandemakers W.
Carreras Mascaro A, et al. Among authors: boumeester v.
Cell Mol Life Sci. 2024 Feb 5;81(1):75. doi: 10.1007/s00018-024-05135-0.
Cell Mol Life Sci. 2024.
PMID: 38315424
Free PMC article.
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deCLUTTER2+ - a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes.
Grochowska MM, Ferraro F, Carreras Mascaro A, Natale D, Winkelaar A, Boumeester V, Breedveld GJ, Bonifati V, Mandemakers W.
Grochowska MM, et al. Among authors: boumeester v.
Dis Model Mech. 2023 Jun 1;16(6):dmm049980. doi: 10.1242/dmm.049980. Epub 2023 Jun 23.
Dis Model Mech. 2023.
PMID: 37260295
Free PMC article.
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