Mirjam S. De Pagter

Utrecht, UT 3584CX, Netherlands

Last Updated: 09/26/2026

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Found 12 publications

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling.

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling.

Journal: Human molecular genetics

Published: January 30, 2025

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Journal: Nature communications

Published: February 06, 2024

Rhabdomyolysis, encephalopathy, epilepsy and cardiac arrhythmia.

Rhabdomyolysis, encephalopathy, epilepsy and cardiac arrhythmia.

Journal: Practical neurology

Published: April 11, 2023

Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial.

Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial.

Journal: Trials

Published: October 05, 2022

Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease - Case series and review.

Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease - Case series and review.

Journal: Neuromuscular disorders : NMD

Published: December 08, 2021

Micronuclei-based model system reveals functional consequences of chromothripsis in human cells.

Micronuclei-based model system reveals functional consequences of chromothripsis in human cells.

Journal: eLife

Published: July 17, 2019

The presence of extra chromosomes leads to genomic instability.

The presence of extra chromosomes leads to genomic instability.

Journal: Nature communications

Published: November 09, 2015

The Diverse Effects of Complex Chromosome Rearrangements and Chromothripsis in Cancer Development.

The Diverse Effects of Complex Chromosome Rearrangements and Chromothripsis in Cancer Development.

Journal: Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer

Published: September 18, 2015

Chromosomal instability, tolerance of mitotic errors and multidrug resistance are promoted by tetraploidization in human cells.

Chromosomal instability, tolerance of mitotic errors and multidrug resistance are promoted by tetraploidization in human cells.

Journal: Cell cycle (Georgetown, Tex.)

Published: July 08, 2015

Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.

Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.

Journal: American journal of human genetics

Published: December 12, 2014

Genomic and transcriptomic plasticity in treatment-naive ovarian cancer.

Genomic and transcriptomic plasticity in treatment-naive ovarian cancer.

Journal: Genome research

Published: November 14, 2013

A multiplex (m)RNA-profiling system for the forensic identification of body fluids and contact traces.

A multiplex (m)RNA-profiling system for the forensic identification of body fluids and contact traces.

Journal: Forensic science international. Genetics

Published: October 02, 2011

Showing 1-12 of 12

Last Updated: 09/26/2026