Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers AH van Lierop, NAT Hamdy, ME van Egmond, E Bakker, FG Dikkers, ... Journal of bone and mineral research 28 (4), 848-854, 2013 | 132 | 2013 |
A novel diagnostic approach to patients with myoclonus R Zutt, ME Van Egmond, JW Elting, PJ Van Laar, OF Brouwer, DA Sival, ... Nature Reviews Neurology 11 (12), 687-697, 2015 | 103 | 2015 |
Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm ME Van Egmond, A Kuiper, H Eggink, RJ Sinke, OF Brouwer, ... Journal of Neurology, Neurosurgery & Psychiatry 86 (7), 774-781, 2015 | 87 | 2015 |
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities D Steel, M Zech, C Zhao, KES Barwick, D Burke, D Demailly, KR Kumar, ... Annals of neurology 88 (5), 867-877, 2020 | 80 | 2020 |
A post hoc study on gene panel analysis for the diagnosis of dystonia ME van Egmond, CHA Lugtenberg, OF Brouwer, MF Contarino, ... Movement Disorders 32 (4), 569-575, 2017 | 69 | 2017 |
Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience DF van Rappard, JJ Boelens, ME van Egmond, J Kuball, PM van Hasselt, ... Blood, The Journal of the American Society of Hematology 127 (24), 3098-3101, 2016 | 62 | 2016 |
Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation ME van Egmond, CC Verschuuren‐Bemelmans, EA Nibbeling, JWJ Elting, ... Movement disorders 29 (1), 139-143, 2014 | 60 | 2014 |
Spasticity, dyskinesia and ataxia in cerebral palsy: are we sure we can differentiate them? H Eggink, D Kremer, OF Brouwer, MF Contarino, ME van Egmond, ... european journal of paediatric neurology 21 (5), 703-706, 2017 | 53 | 2017 |
Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy ME van Egmond, PJW Pouwels, JJ Boelens, CA Lindemans, F Barkhof, ... JAMA neurology 70 (6), 779-782, 2013 | 50 | 2013 |
Toward adaptive deep brain stimulation for dystonia D Piña-Fuentes, M Beudel, S Little, J van Zijl, JW Elting, DLM Oterdoom, ... Neurosurgical focus 45 (2), E3, 2018 | 44 | 2018 |
Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment ME Van Egmond, JWJ Elting, A Kuiper, R Zutt, KR Heineman, OF Brouwer, ... european journal of paediatric neurology 19 (6), 726-729, 2015 | 30 | 2015 |
Non-motor effects of deep brain stimulation in dystonia: a systematic review H Eggink, S Szlufik, MA Coenen, ME van Egmond, E Moro, MAJ Tijssen Parkinsonism & Related Disorders 55, 26-44, 2018 | 24 | 2018 |
Bilateral pallidotomy for dystonia: a systematic review LM Centen, DLM Oterdoom, MAJ Tijssen, I Lesman‐Leegte, ... Movement Disorders 36 (3), 547-557, 2021 | 22 | 2021 |
Challenges in clinicogenetic correlations: one phenotype–many genes R Gannamani, S van der Veen, M van Egmond, TJ de Koning, ... Movement Disorders Clinical Practice 8 (3), 311-321, 2021 | 19 | 2021 |
Intermuscular coherence as biomarker for pallidal deep brain stimulation efficacy in dystonia E Doldersum, JC Van Zijl, M Beudel, H Eggink, R Brandsma, ... Clinical Neurophysiology 130 (8), 1351-1357, 2019 | 19 | 2019 |
Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders ME van Egmond, H Eggink, A Kuiper, DA Sival, ... Journal of clinical movement disorders 5, 1-7, 2018 | 18 | 2018 |
Reversal of status dystonicus after relocation of pallidal electrodes in DYT6 generalized dystonia DLM Oterdoom, ME Van Egmond, LC Ascencao, JMC Van Dijk, ... Tremor and Other Hyperkinetic Movements 8, 2018 | 18 | 2018 |
Low-frequency oscillation suppression in dystonia: implications for adaptive deep brain stimulation D Piña-Fuentes, M Beudel, JC Van Zijl, ME Van Egmond, DLM Oterdoom, ... Parkinsonism & Related Disorders 79, 105-109, 2020 | 17 | 2020 |
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study ME Van Egmond, A Weijenberg, ME Van Rijn, JWJ Elting, JM Gelauff, ... Orphanet journal of rare diseases 12, 1-6, 2017 | 17 | 2017 |
Dystonia‐deafness syndrome caused by a β‐actin gene mutation and response to deep brain stimulation H Eggink, ME van Egmond, CC Verschuuren‐Bemelmans, MC Schönherr, ... Movement Disorders 32 (1), 162-165, 2017 | 17 | 2017 |