W. Ludo van der Pol
Utrecht University(NL)Heidelberg University(DE)University Hospital Heidelberg(DE)University Medical Center Utrecht(NL)University Medical Center Utrecht(NL)Hersenstichting(NL)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Congenital Anomalies and Fetal Surgery, RNA modifications and cancer, Peripheral Neuropathies and Disorders, Hereditary Neurological Disorders
Most-Cited Works
- → Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling(2013)367 cited
- → IgG receptor polymorphisms: risk factors for disease(1998)246 cited
- → Muscle strength and motor function throughout life in a cross‐sectional cohort of 180 patients with spinal muscular atrophy types 1c–4(2017)225 cited
- → RYR1‐related myopathies: a wide spectrum of phenotypes throughout life(2015)141 cited
- → VCP mutations in familial and sporadic amyotrophic lateral sclerosis(2011)139 cited
- → Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0–4(2017)136 cited