Martje E. van Egmond

Van Buchem disease: Clinical, biochemical, and densitometric features of patients and disease carriers

Antoon H van Lierop, Neveen A. T. Hamdy, Martje E. van Egmond et al. · Journal of Bone and Mineral Research · 2012 · 121 citations · Full text

Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Dora Steel, Michael Zech, Chen Zhao et al. · Annals of Neurology · 2020 · 106 citations · Full text

Improvement of White Matter Changes on Neuroimaging Modalities After Stem Cell Transplant in Metachromatic Leukodystrophy

Martje E. van Egmond, Petra J. W. Pouwels, Jaap Jan Boelens et al. · JAMA Neurology · 2013 · 57 citations

A post hoc study on gene panel analysis for the diagnosis of dystonia

Martje E. van Egmond, Coen H.A. Lugtenberg, Oebele F. Brouwer et al. · Movement Disorders · 2017 · 56 citations · Full text

Spasticity, dyskinesia and ataxia in cerebral palsy: Are we sure we can differentiate them?

Hendriekje Eggink, Daan Kremer, O.F. Brouwer et al. · European Journal of Paediatric Neurology · 2017 · 55 citations · Full text

Neurorehabilitation, Neuropsychology, Corticobasal Degeneration +12