Maria M. Zwartkruis
Utrecht, UT, Netherlands
Last Updated: 09/26/2026
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Found 10 publications
The SMN locus in the T2T era: Structure, gene conversion, and clinical implications.
Journal: Trends in genetics : TIG
Published: January 30, 2026
A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling.
Journal: Human molecular genetics
Published: January 30, 2025
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.
Journal: Genome medicine
Published: September 18, 2024
Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids.
Journal: Acta neuropathologica communications
Published: August 21, 2024
Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts.
Journal: Molecular therapy. Methods & clinical development
Published: August 21, 2024
Promoting expression in gene therapy: more is not always better.
Journal: EMBO molecular medicine
Published: December 11, 2023
Inflammatory markers in cerebrospinal fluid of paediatric spinal muscular atrophy patients receiving nusinersen treatment.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: July 21, 2022
An Intersectional Approach to Target Neural Circuits With Cell- and Projection-Type Specificity: Validation in the Mesolimbic Dopamine System.
Journal: Frontiers in molecular neuroscience
Published: November 19, 2018
Showing 1-10 of 10
Last Updated: 09/26/2026