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Ronald A.M. Buijsen

Leiden University Medical Center

Netherlands

Research Interests

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Articles (16)

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2026

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2026

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2022

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2021

Collaborators (10)

Willeke van Roon-Mom

Assistant Professor

Leiden University Medical Center

NETHERLANDS

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Eleni Mina

Senior researcher

Leiden University Medical Center

NETHERLANDS

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Carmen Espinós

Professor

University of Valencia

SPAIN

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LOURDES R DESVIAT

Full Professor

Universidad Autónoma de Madrid

SPAIN

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Renate Hukema

Lecturer/Research supervisor/Coach

Erasmus University Rotterdam

NETHERLANDS

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Giovanni Stevanin

Directeur d'Etudes Cumulant (Professor)

École Pratique des Hautes Études

FRANCE

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Sandra Alves

Auxiliary Investigator (Staff Scientist). Head of the Lysosomal Storage Diseases Research Group

Instituto Nacional de Saúde Doutor Ricardo Jorge

PORTUGAL

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Virginia Arechavala-Gomeza

Ikerbasque Professor

Ikerbasque, Basque Foundation for Science

SPAIN

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Michela Alessandra Denti

University of Trento

ITALY

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David Parfitt

NETHERLANDS

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Ronald A.M. Buijsen

Research Interests

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Articles (16)

Generation of 4 human induced pluripotent stem cell lines (LUMCi070-A, −B, −C, and −D) from a patient with ischemic cerebral small vessel disease

A Novel APP p.V742L variant in a patient with ischemic small vessel disease enhances FE65 signalling

Impedance-based phenotypic profiling of metabotropic glutamate receptor ligand responses in SCA1 human iPSC-derived neuronal cultures

Selective silencing of expanded CAG repeats: Chemically modified siRNA advances RNA-based therapies for polyglutamine diseases

Targeting rare splicing defects: Antisense oligonucleotides offer a therapeutic strategy in FRDA

Determining off-target effects of splice-switching antisense oligonucleotides using short read RNAseq in neuronally differentiated human induced pluripotent stem cells

A scalable system using mini-organs to test personalized RNA therapy

Therapeutic Strategies for Spinocerebellar Ataxia Type 1

Spinocerebellar Ataxia Type 1 Characteristics in Patient‐Derived Fibroblast and iPSC‐Derived Neuronal Cultures

Amyloid beta accumulations and enhanced neuronal differentiation in cerebral organoids of Dutch-type cerebral amyloid angiopathy patients

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

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

Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias

Delivery of oligonucleotide-based therapeutics: challenges and opportunities.

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

Antisense Oligonucleotide-Induced Amyloid Precursor Protein Splicing Modulation as a Therapeutic Approach for Dutch-Type Cerebral Amyloid Angiopathy

Collaborators (10)

Willeke van Roon-Mom

Eleni Mina

Carmen Espinós

LOURDES R DESVIAT

Renate Hukema

Giovanni Stevanin

Sandra Alves

Virginia Arechavala-Gomeza

Michela Alessandra Denti

David Parfitt

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