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Ronald A. M. Buijsen · SciRah

Researcher profile · Semantic Scholar

Ronald A. M. Buijsen

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Ronald A. M. Buijsen — researcher profile on SciRah

h-index: 17
Works: 47
Citations: 1,772

Most-cited papers

Delivery of oligonucleotide‐based therapeutics: challenges and opportunities
S. Hammond, Annemieke Aartsma-Rus, S. Alves, S. Borgos +18 more
2021EMBO Molecular Medicine345 citations Open access
Semantic Scholar
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome
C. Sellier, Ronald A. M. Buijsen, Fang He, Sam Natla +24 more
2017Neuron226 citations Open access
Semantic Scholar
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome.
Josien Levenga, S. Hayashi, F. D. de Vrij, S. Koekkoek +10 more
2011Neurobiology of Disease125 citations
Semantic Scholar
Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias
Ronald A. M. Buijsen, L. Toonen, S. L. Gardiner, W. V. van Roon-Mom
2019Neurotherapeutics124 citations Open access
Semantic Scholar
Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice.
I. Gantois, A. Pop, C. de Esch, Ronald A. M. Buijsen +6 more
2013Behavioural Brain Research94 citations
Semantic Scholar
Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant
A. Pop, Josien Levenga, C. de Esch, Ronald A. M. Buijsen +6 more
2012Psychopharmacology90 citations
Semantic Scholar
FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome
Ronald A. M. Buijsen, C. Sellier, Lies-anne Severijnen, M. Oulad-Abdelghani +5 more
2014Acta Neuropathologica Communications86 citations Open access
Semantic Scholar
Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency.
Ronald A. M. Buijsen, J. A. Visser, Piet Kramer, E. Severijnen +6 more
2016Human Reproduction85 citations Open access
Semantic Scholar
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome
R. Berman, Ronald A. M. Buijsen, K. Usdin, E. Pintado +8 more
2014Journal of Neurodevelopmental Disorders79 citations Open access
Semantic Scholar
The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice
María Fernanda Vinueza Veloz, Ronald A. M. Buijsen, R. Willemsen, A. Cupido +5 more
2012Genes, Brain and Behavior66 citations Open access
Semantic Scholar
Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo
Renate K. Hukema, Ronald A. M. Buijsen, Christopher Raske, Lies-anne Severijnen +8 more
2014Cell Cycle54 citations Open access
Semantic Scholar
Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO mice.
Josien Levenga, F. D. de Vrij, Ronald A. M. Buijsen, Tracy Li +4 more
2011Neurobiology of Learning and Memory54 citations
Semantic Scholar
Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.
Renate K. Hukema, Ronald A. M. Buijsen, M. Schonewille, Christopher Raske +10 more
2015Human Molecular Genetics50 citations Open access
Semantic Scholar
Fragile X mice have robust mGluR5-dependent alterations of social behaviour in the Automated Tube Test.
C. de Esch, W. van den Berg, Ronald A. M. Buijsen, I. A. Jaafar +4 more
2015Neurobiology of Disease43 citations Open access
Semantic Scholar
Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons
Josien Levenga, Ronald A. M. Buijsen, M. Rifé, H. Moine +4 more
2009Neurobiology of Disease28 citations Open access
Semantic Scholar
Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.
Ronald A. M. Buijsen, S. L. Gardiner, M. Bouma, L. M. van der Graaf +6 more
2018Stem Cell Research26 citations Open access
Semantic Scholar
Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset
S. L. Gardiner, C. Milanese, M. Boogaard, Ronald A. M. Buijsen +5 more
2018Neurology: Genetics20 citations Open access
Semantic Scholar
Early molecular layer interneuron hyperactivity triggers Purkinje neuron degeneration in SCA1
Federica Pilotto, Christopher Douthwaite, Rim Diab, XiaoQian Ye +14 more
2023Neuron18 citations Open access
Semantic Scholar
Spinocerebellar Ataxia Type 1 Characteristics in Patient‐Derived Fibroblast and iPSC‐Derived Neuronal Cultures
Ronald A. M. Buijsen, Michel Hu, Maria Sáez-González, S. Notopoulou +12 more
2023Movement Disorders16 citations Open access
Semantic Scholar
Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome
H. Castro, Emre Kul, Ronald A. M. Buijsen, Lies-anne Severijnen +4 more
2017Human Molecular Genetics16 citations Open access
Semantic Scholar
Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model
S. Zeidler, A. Pop, I. A. Jaafar, Helen de Boer +5 more
2018Brain and Behavior15 citations Open access
Semantic Scholar
Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias
Marina P. Hommersom, Ronald A. M. Buijsen, W. V. van Roon-Mom, B. C. van de Warrenburg +1 more
2021Stem Cell Reviews and Reports14 citations Open access
Semantic Scholar
Therapeutic Strategies for Spinocerebellar Ataxia Type 1
L. M. Kerkhof, B. C. van de Warrenburg, W. V. van Roon-Mom, Ronald A. M. Buijsen
2023Biomolecules13 citations Open access
Semantic Scholar
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
D. Beijer, B. Fogel, S. Beltrán, M. Danzi +33 more
2023Cerebellum13 citations Open access
Semantic Scholar
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation
S. Haify, Ronald A. M. Buijsen, Lucas Verwegen, Lies-anne Severijnen +8 more
2021Human Molecular Genetics11 citations Open access
Semantic Scholar
Antisense Oligonucleotide-Induced Amyloid Precursor Protein Splicing Modulation as a Therapeutic Approach for Dutch-Type Cerebral Amyloid Angiopathy
Elena Daoutsali, Tsinatkeab T. Hailu, Ronald A. M. Buijsen, B. Pepers +5 more
2021Nucleic Acid Therapeutics10 citations Open access
Semantic Scholar
Amyloid beta accumulations and enhanced neuronal differentiation in cerebral organoids of Dutch-type cerebral amyloid angiopathy patients
Elena Daoutsali, B. Pepers, Stavros Stamatakis, L. M. van der Graaf +4 more
2023Frontiers in Aging Neuroscience9 citations Open access
Semantic Scholar
Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient.
Elena Daoutsali, Ronald A. M. Buijsen, S. van de Pas, An-Ke T. Jong +10 more
2019Stem Cell Research8 citations Open access
Semantic Scholar
Determining off-target effects of splice-switching antisense oligonucleotides using short read RNAseq in neuronally differentiated human induced pluripotent stem cells
E. Kuijper, L. M. van der Graaf, B. Pepers, Mariana Guimarães Ramos +7 more
2025bioRxiv6 citations Open access
Semantic Scholar
Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients.
E. van der Wal, B. den Hamer, P. van der Vliet, Merve Tok +10 more
2019Stem Cell Research6 citations Open access
Semantic Scholar
Antisense oligonucleotide-mediated disruption of HTT caspase-6 cleavage site ameliorates the phenotype of YAC128 Huntington disease mice.
E. Kuijper, M. Overzier, E. Suidgeest, O. Dzyubachyk +8 more
2023Neurobiology of Disease5 citations Open access
Semantic Scholar
Calcium-Enhanced Medium-Based Delivery of Splice Modulating Antisense Oligonucleotides in 2D and 3D hiPSC-Derived Neuronal Models
Ronald A. M. Buijsen, L. M. van der Graaf, E. Kuijper, B. Pepers +5 more
2024Biomedicines4 citations Open access
Semantic Scholar
Training and peer-group coaching for pairs of researchers and patient representatives to support continuous two-way learning
Casper G. Schoemaker, Inge Schalkers, B. D. de Jong, W. Wissink +6 more
2024Research Involvement and Engagement4 citations Open access
Semantic Scholar
Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7.
Linde F. Bouwman, M. E. M. Joosen, Ronald A. M. Buijsen, L. M. van der Graaf +5 more
2024Stem Cell Research2 citations Open access
Semantic Scholar
Fragile X-associated Tremor/Ataxia Syndrome: RNA or RAN?
Ronald A. M. Buijsen
20162 citations
Semantic Scholar
Impedance-based phenotypic profiling of metabotropic glutamate receptor ligand responses in SCA1 human iPSC-derived neuronal cultures.
L. M. Kerkhof, Ronald A. M. Buijsen, S. Hartman, B. Pepers +5 more
2026Neurobiology of Disease1 citations Open access
Semantic Scholar
A Novel APP p.V742L variant in a patient with ischemic small vessel disease enhances FE65 signalling.
B. J. Voesenek, J. Rutten, Monique P. C. Mulder, Hai-Liang Mei +6 more
2026Neurobiology of Disease1 citations Open access
Semantic Scholar
Targeting rare splicing defects: Antisense oligonucleotides offer a therapeutic strategy in FRDA
L. M. Kerkhof, Ronald A. M. Buijsen
2025Molecular Therapy: Nucleic Acids1 citations Open access
Semantic Scholar
Establishment of In Vitro Brain Models for AON Delivery.
Elena Daoutsali, Ronald A. M. Buijsen
2022Methods in molecular biology1 citations Open access
Semantic Scholar
Loss of astrocytic markers and impaired metabolic function in spinocerebellar ataxia type 7 patient-derived neural cultures.
Linde F. Bouwman, Ronald A. M. Buijsen, L. M. van der Graaf, B. Pepers +4 more
2026Neurobiology of Disease0 citations Open access
Semantic Scholar
Generation of 4 human induced pluripotent stem cell lines (LUMCi070-A, -B, -C, and -D) from a patient with ischemic cerebral small vessel disease.
B. J. Voesenek, L. M. van der Graaf, S. Lesnik Oberstein, W. V. van Roon-Mom +2 more
2026Stem Cell Research0 citations Open access
Semantic Scholar
Selective silencing of expanded CAG repeats: Chemically modified siRNA advances RNA-based therapies for polyglutamine diseases
Gijs-Jan Scholten, J. Hyde, Ronald A. M. Buijsen
2026Molecular Therapy: Nucleic Acids0 citations Open access
Semantic Scholar
Generation of an isogenic human induced pluripotent stem cell line for spinocerebellar ataxia type 1.
L. M. Kerkhof, B. Pepers, L. M. van der Graaf, Angela Santiago-Aranda +4 more
2026Stem Cell Research0 citations Open access
Semantic Scholar
A scalable system using mini-organs to test personalized RNA therapy
Ronald A. M. Buijsen
2025Nature0 citations
Semantic Scholar
17th Annual Meeting of the Oligonucleotide Therapeutics Society: A Tribute to Bob Letsinger, Progress in N = 1 Treatments, and Successful First In-Humans CRISPR Trials
Ronald A. M. Buijsen, A. Lacroix, Joseph Ochaba, D. O'reilly +2 more
2022Nucleic Acid Therapeutics0 citations
Semantic Scholar
A33 Differences in bioenergetic status in patient-derived fibroblast cells are associated with age of onset in huntington disease
S. L. Gardiner, C. Milanese, M. Boogaard, Ronald A. M. Buijsen +5 more
2018Pathogenic mechanisms0 citations
Semantic Scholar
Mouse Models for FXTAS and the Fragile X Premutation
M. Foote, M. Careaga, Ronald A. M. Buijsen, R. Berman +2 more
20160 citations
Semantic Scholar

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