Ludo W. Van Der Pol

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 13 publications

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.

Journal: EClinicalMedicine

Published: December 17, 2025

Sleep in children with spinal muscular atrophy and their caregivers: Exploring sleep problems and the need for care.

Sleep in children with spinal muscular atrophy and their caregivers: Exploring sleep problems and the need for care.

Journal: Research in developmental disabilities

Published: October 01, 2025

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.

Journal: Brain : a journal of neurology

Published: May 17, 2023

Oscillometry: A substitute of spirometry in children with neuromuscular diseases?

Oscillometry: A substitute of spirometry in children with neuromuscular diseases?

Journal: Pediatric pulmonology

Published: December 23, 2021

Short-term effect and effect on rate of lung function decline after surgery for neuromuscular or syndromic scoliosis.

Short-term effect and effect on rate of lung function decline after surgery for neuromuscular or syndromic scoliosis.

Journal: Pediatric pulmonology

Published: September 22, 2021

Buying time for infants with spinal muscular atrophy.

Buying time for infants with spinal muscular atrophy.

Journal: The Lancet. Neurology

Published: August 26, 2021

Nerve ultrasound for diagnosing chronic inflammatory neuropathy: A multicenter validation study.

Nerve ultrasound for diagnosing chronic inflammatory neuropathy: A multicenter validation study.

Journal: Neurology

Published: December 23, 2019

Effect of mechanical insufflation-exsufflation in children with neuromuscular weakness.

Effect of mechanical insufflation-exsufflation in children with neuromuscular weakness.

Journal: Pediatric pulmonology

Published: October 17, 2019

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Journal: Clinical genetics

Published: January 01, 2019

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

Journal: JIMD reports

Published: April 24, 2018

Social participation of adult patients with spinal muscular atrophy: Frequency, restrictions, satisfaction, and correlates.

Social participation of adult patients with spinal muscular atrophy: Frequency, restrictions, satisfaction, and correlates.

Journal: Muscle & nerve

Published: November 17, 2017

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 13, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026