• P. Debyelaan 25

    6229 HX Maastricht

    Netherlands

Research Output

2020

Absence Epilepsy and Panayiotopoulos Syndrome: Neurocognition and Brain Development

Fonseca Wald, E. L. A., 2020, Maastricht: Drukkerij Walters. 188 p.

Research output: ThesisDoctoral ThesisInternal

Open Access
File
92 Downloads (Pure)

Activities of daily living in myotonic dystrophy type 1

Landfeldt, E., Nikolenko, N., Jimenez-Moreno, C., Cumming, S., Monckton, D. G., Faber, C. G., Merkies, I. S. J., Gorman, G., Turner, C. & Lochmueller, H., May 2020, In : Acta Neurologica Scandinavica. 141, 5, p. 380-387 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

A mutation update for the FLNC gene in myopathies and cardiomyopathies

Verdonschot, J. A. J., Vanhoutte, E. K., Claes, G. R. F., van den Enden, A. T. J. M. H., Hoeijmakers, J. G. J., Hellebrekers, D. M. E. I., Haan, A. D., Christiaans, I., Deprez, R. H. L., Boen, H. M., Craenenbroeck, E. M. V., Loeys, B. L., Hoedemaekers, Y. M., Marcelis, C., Kempers, M., Brusse, E., Waning, J. I., Baas, A. F., Dooijes, D., Asselbergs, F. W. & 6 others, Barge-Schaapveld, D. Q. C. M., Koopman, P., Wijngaard, A. V. D., Heymans, S. R. B., Krapels, I. P. C. & Brunner, H. G., Jun 2020, In : Human Mutation. 41, 6, p. 1091-1111 21 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Association of Prediabetes and Type 2 Diabetes With Cognitive Function After Stroke: A STROKOG Collaboration Study

Lo, J. W., Crawford, J. D., Samaras, K., Desmond, D. W., Kohler, S., Staals, J., Verhey, F. R. J., Bae, H-J., Lee, K-J., Kim, B. J., Bordet, R., Cordonnier, C., Dondaine, T., Mendyk, A-M., Lee, B-C., Yu, K-H., Lim, J-S., Kandiah, N., Chander, R. J., Yatawara, C. & 3 others, Lipnicki, D. M., Sachdev, P. S. & STROKOG Collaboration, Jun 2020, In : Stroke. 51, 6, p. 1640-1646 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Clinical and Imaging Determinants of Collateral Status in Patients With Acute Ischemic Stroke in MR CLEAN Trial and Registry

Wiegers, E. J. A., Mulder, M. J. H. L., Jansen, I. G. H., Venema, E., Compagne, K. C. J., Berkhemer, O. A., Emmer, B. J., Marquering, H. A., van Es, A. C. G. M., Sprengers, M. E., van Zwam, W. H., van Oostenbrugge, R. J., Roos, Y. B. W. E. M., Majoie, C. B. L. M., Roozenbeek, B., Lingsma, H. F., Dippel, D. W. J. & van der Lugt, A., May 2020, In : Stroke. 51, 5, p. 1493-1502 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Constructing an Axonal-Specific Myelin Developmental Graph and its Application to Childhood Absence Epilepsy

Drenthen, G. S., Fonseca Wald, E. L. A., Backes, W. H., Aldenkamp, A. P., Vermeulen, R. J., Debeij-van Hall, M. H. J. A., Klinkenberg, S. & Jansen, J. F. A., May 2020, In : Journal of Neuroimaging. 30, 3, p. 308-314 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Diagnosing Juvenile Huntington's Disease: An Explorative Study among Caregivers of Affected Children

Oosterloo, M., Bijlsma, E. K., de Die-Smulders, C. & Roos, R. A. C., Mar 2020, In : Brain Sciences. 10, 3, 12 p., 155.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Endovascular Treatment for Acute Ischemic Stroke in Patients on Oral Anticoagulants: Results From the MR CLEAN Registry

Goldhoorn, R-J. B., van de Graaf, R. A., van Rees, J. M., Lingsma, H. F., Dippel, D. W. J., Hinsenveld, W. H., Postma, A., van den Wijngaard, I., van Zwam, W. H., van Oostenbrugge, R. J., Roozenbeek, B. & MR CLEAN Registry Investigators, Jun 2020, In : Stroke. 51, 6, p. 1781-1789 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Ketogenic diet for the treatment of pediatric epilepsy: review and meta-analysis

Sourbron, J., Klinkenberg, S., van Kuijk, S. M. J., Lagae, L., Lambrechts, D., Braakman, H. M. H. & Majoie, M., Jun 2020, In : Child's Nervous System. 36, 6, p. 1099-1109 11 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Longitudinal follow-up of verbal span and processing speed in Duchenne muscular dystrophy

Hellebrekers, D. M. J., Doorenweerd, N., Sweere, D. J. J., van Kuijk, S. M. J., Aartsma-Rus, A. M., Klinkenberg, S., Vles, J. S. H. & Hendriksen, J. G. M., Mar 2020, In : European Journal of Paediatric Neurology. 25, p. 120-126 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene

Van Beusichem, A. E., Nicolai, J., Verhoeven, J., Speth, L., Coenen, M., Willemsen, M. A., Kamsteeg, E. J., Stumpel, C. & Vermeulen, R. J., Apr 2020, In : Neuropediatrics. 51, 2, p. 146-153 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Natural killer cells in multiple sclerosis: A review

Mimpen, M., Smolders, J., Hupperts, R. & Damoiseaux, J., Jun 2020, In : Immunology Letters. 222, p. 1-11 11 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Non-gated cardiac CT angiography for detection of cardio-aortic sources of embolism in the acute phase of ischaemic stroke

Guglielmi, V., Planken, R. N., Mihl, C., Niesen, S., Staals, J., Coutinho, J. M. & Postma, A. A., Apr 2020, In : Journal of Neurology Neurosurgery and Psychiatry. 91, 4, p. 442-443 2 p.

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

On the merits of non-invasive myelin imaging in epilepsy, a literature review

Drenthen, G. S., Backes, W. H., Aldenkamp, A. P., Vermeulen, R. J., Klinkenberg, S. & Jansen, J. F. A., 15 May 2020, In : Journal of Neuroscience Methods. 338, 9 p., 108687.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Path From Clinical Research to Implementation Endovascular Treatment of Ischemic Stroke in the Netherlands

Wiegers, E. J. A., Compagne, K. C. J., Janssen, P. M., Venema, E., Deckers, J. W., Schonewille, W. J., Albert Vos, J., Nijeholt, G. J. L. A., Roozenbeek, B., Martens, J. M., Hofmeijer, J., van Oostenbrugge, R-J., van Zwam, W. H., Majoie, C. B. L. M., van der Lugt, A., Lingsma, H. F., Roos, Y. B. W. E. M. & Dippel, D. W. J., Jul 2020, In : Stroke. 51, 7, p. 1941-1950 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Repeated Endovascular Thrombectomy in Patients With Acute Ischemic Stroke: Results From a Nationwide Multicenter Database

Pirson, F. A. V., van Oostenbrugge, R. J., van Zwam, W. H., Remmers, M. J. M., Dippel, D. W. J., van Es, A. C. G. M., van den Wijngaard, I. R., Schonewille, W. J. & Staals, J., Feb 2020, In : Stroke. 51, 2, p. 526-532 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Swallow-related quality of life and oropharyngeal dysphagia in myotonic dystrophy

Pilz, W., Passos, V. L., Verdonschot, R. J., Meijers, J., Roodenburg, N., Halmans, Y., Faber, C. G., Kremer, B. & Baijens, L. W. J., Aug 2020, In : European Archives of Oto-Rhino-Laryngology. 277, 8, p. 2357-2362 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Therapeutic drug monitoring of anti-epileptic drugs - a clinical verification of volumetric absorptive micro sampling

Canisius, T. P. I. J. M., Soons, J. W. P. H., Verschuure, P., Wammes-van der Heijden, E. A., Rouhl, R. P. W. & Majoie, H. J. M., May 2020, In : Clinical Chemistry and Laboratory Medicine. 58, 5, p. 828-835 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

2019

Acute Endovascular Treatment of Patients With lschemic Stroke From Intracranial Large Vessel Occlusion and Extracranial Carotid Dissection

Compagne, K. C. J., Goldhoorn, R. B., Uyttenboogaart, M., van Oostenbrugge, R. J., van Zwam, W. H., van Doormaal, P. J., Dippel, D. W. J., van der Lugt, A., Emmer, B. J., van Es, A. C. G. M., Majoie, C. B. L. M., Roos, Y. B. W. E. M., Boiten, J., Vos, J. A., Jansen, I. G. H., Mulder, M. J. H. L., Kappelhof, M., Schonewille, W. J., Coutinho, J. M., Wermer, M. J. H. & 31 others, van Walderveen, M. A. A., Staals, J., Hofmeijer, J., Martens, J. M., Nijeholt, G. J. L., Roozenbeek, B., de Bruijn, S. F., van Dijk, L. C., van der Worp, H. B., Lo, R. H., van Dijk, E. J., Boogaarts, H. D., de Kort, P. L. M., Peluso, J. J. P., van den Berg, J. S. P., van Hasselt, B. A. A. M., Aerden, L. A. M., Dallinga, R. J., Eshghi, O., Schreuder, T. H. C. M. L., Heijboer, R. J. J., Keizer, K., Yo, L. S. F., den Hertog, H. M., Sturm, E. J. C., Sprengers, M. E. S., Jenniskens, S. F. M., van den Berg, R., Postma, A. A., Groot, P. F. C. & MR CLEAN Investigators, 19 Feb 2019, In : Frontiers in Neurology. 10, p. 1-9 9 p., 102.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
Open Access

Association of Initial Disease-Modifying Therapy With Later Conversion to Secondary Progressive Multiple Sclerosis

Brown, J. W. L., Coles, A., Horakova, D., Havrdova, E., Izquierdo, G., Prat, A., Girard, M., Duquette, P., Trojano, M., Lugaresi, A., Bergamaschi, R., Grammond, P., Alroughani, R., Hupperts, R., McCombe, P., Van Pesch, V., Sola, P., Ferraro, D., Grand'Maison, F., Terzi, M. & 31 others, Lechner-Scott, J., Flechter, S., Slee, M., Shaygannejad, V., Pucci, E., Granella, F., Jokubaitis, V., Willis, M., Rice, C., Scolding, N., Wilkins, A., Pearson, O. R., Ziemssen, T., Hutchinson, M., Harding, K., Jones, J., McGuigan, C., Butzkueven, H., Kalincik, T., Robertson, N., Onofrj, M., De Luca, G., Di Tommaso, V., Travaglini, D., Pietrolongo, E., di Ioia, M., Farina, D., Mancinelli, L., Hodgkinson, S., Oreja-Guevara, C. & MSBase Study Grp, 15 Jan 2019, In : JAMA-Journal of the American Medical Association. 321, 2, p. 175-187 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Association of Time From Stroke Onset to Groin Puncture With Quality of Reperfusion After Mechanical Thrombectomy A Meta-analysis of Individual Patient Data From 7 Randomized Clinical Trials

Bourcier, R., Goyal, M., Liebeskind, D. S., Muir, K. W., Desal, H., Siddiqui, A. H., Dippel, D. W. J., Majoie, C. B., van Zwam, W. H., Jovin, T. G., Levy, E. I., Mitchell, P. J., Berkhemer, O. A., Davis, S. M., Derraz, L., Donnan, G. A., Demchuk, A. M., van Oostenbrugge, R. J., Kelly, M., Roos, Y. B. & 23 others, Jahan, R., van der Lugt, A., Sprengers, M., Velasco, S., Nijeholt, G. J. L. A., Ben Hassen, W., Burns, P., Brown, S., Chabert, E., Krings, T., Chloe, H., Weimar, C., Campbell, B. C. V., Ford, G. A., Ribo, M., White, P., Cloud, G. C., San Roman, L., Davalos, A., Naggara, O., Hill, M. D., Bracard, S. & HERMES Trialists Collaboration, Apr 2019, In : JAMA Neurology. 76, 4, p. 405-411 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Autoantibodies in disorders of the brain: expanding the spectrum

Zong, S., 6 Nov 2019, Maastricht: Maastricht University.

Research output: ThesisDoctoral ThesisInternal

Open Access
File
282 Downloads (Pure)

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

ten Dam, L., Frankhuizen, W. S., Linssen, W. H. J. P., Straathof, C. S., Niks, E. H., Faber, K., Fock, A., Kuks, J. B., Brusse, E., de Coo, R., Voermans, N., Verrips, A., Hoogendijk, J. E., van Der Pol, L., Westra, D., de Visser, M., van der Kooi, A. J. & Ginjaar, I., Aug 2019, In : Clinical Genetics. 96, 2, p. 126-133 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

A zebrafish model of small-fiber neuropathy

Eijkenboom, I., 2019, Maastricht: ProefschriftMaken Maastricht. 183 p.

Research output: ThesisDoctoral ThesisInternal

Open Access
File
19 Downloads (Pure)

A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1

Eijkenboom, I., Vanoevelen, J. M., Hoeijmakers, J. G. J., Wijnen, I., Gerards, M., Faber, C. G. & Smeets, H. J. M., Jul 2019, In : Mitochondrion. 47, p. 273-281 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Balloon Guide Catheter in Endovascular Treatment for Acute Ischemic Stroke: Results from the MR CLEAN Registry

Goldhoorn, R-J. B., Duijsters, N., Majoie, C. B. L. M., Roos, Y. B. W. E. M., Dippel, D. W. J., van Es, A. C. G. M., Vos, J. A., Boiten, J., van Oostenbrugge, R. J., van Zwam, W. H. & MR CLEAN Registry Investigators, Nov 2019, In : Journal of Vascular and Interventional Radiology. 30, 11, p. 1759-1764 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Blood-brain barrier impairment and hypoperfusion are linked in cerebral small vessel disease

Wong, S. M., Jansen, J. F. A., Zhang, C. E., Hoff, E. I., Staals, J., van Oostenbrugge, R. J. & Backes, W. H., 9 Apr 2019, In : Neurology. 92, 15, p. E1669-E1677 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
241 Downloads (Pure)

Cardiac surgery biochemical monitoring in infants with congenital heart diseases

Abella Antón, R. F., 2019, Maastricht: ProefschriftMaken Maastricht. 146 p.

Research output: ThesisDoctoral ThesisExternal prepared

Open Access
File
2 Downloads (Pure)

Cerebral microbleeds and stroke risk after ischaemic stroke or transient ischaemic attack: a pooled analysis of individual patient data from cohort studies

Wilson, D., Ambler, G., Lee, K-J., Lim, J-S., Shiozawa, M., Koga, M., Li, L., Lovelock, C., Chabriat, H., Hennerici, M., Wong, Y. K., Mak, H. K. F., Prats-Sanchez, L., Martinez-Domeno, A., Inamura, S., Yoshifuji, K., Arsava, E. M., Horstmann, S., Purrucker, J., Lam, B. Y. K. & 31 others, Wong, A., Kim, Y. D., Song, T-J., Schrooten, M., Lemmens, R., Eppinger, S., Gattringer, T., Uysal, E., Tanriverdi, Z., Bornstein, N. M., Ben Assayag, E., Hallevi, H., Tanaka, J., Hara, H., Coutts, S. B., Hert, L., Polymeris, A., Seiffge, D. J., Lyrer, P., Algra, A., Kappelle, J., Salman, R. A-S., Jager, H. R., Lip, G. Y. H., Mattle, H. P., Panos, L. D., Mas, J-L., Kooi, M. E., van Oostenbrugge, R., Staals, J. & Microbleeds Int Collaborative Net, Jul 2019, In : Lancet Neurology. 18, 7, p. 653-665 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Clinical and genetic characteristics of late-onset Huntington's disease

Oosterloo, M., Bijlsma, E., van Kuijk, S., Minkels, F. & de Die-Smulders, C. E. M., Apr 2019, In : Parkinsonism & Related Disorders. 61, p. 101-105 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Clinical and Imaging Markers Associated With Hemorrhagic Transformation in Patients With Acute Ischemic Stroke

van Kranendonk, K. R., Treumiet, K. M., Boers, A. M. M., Berkhemer, O. A., van den Berg, L. A., Chalos, V., Lingsma, H. F., van Zwam, W. H., van der Lugt, A., van Oostenbrugge, R. J., Dippel, D. W. J., Roos, Y. B. W. E. M., Marquering, H. A., Majoie, C. B. L. M., Fransen, P. S. S., Beumer, D., Yoo, A. J., Schonewille, W. J., Vos, J. A., Nederkoorn, P. J. & 31 others, Wenner, M. J. H., van Walderveen, M. A. A., Staals, J., Hofmeijer, J., van Oostayen, J. A., Nijeholt, G. J. L. A., Boiten, J., Brouwer, P. A., Emmet, B. J., de Bruijn, S. F., van Dijk, L. C., Kappelle, L. J., Lo, R. H., van Dijk, E. J., de Vries, J., de Kort, P. L. M., van Rooij, W. J. J., van den Berg, J. S. P., van Hassell, B. A. A. M., Aerden, L. A. M., Dallinga, R. J., Visser, M. C., Bot, J. C. J., Vroomen, P. C., Eshghi, O., Schreuder, T. H. C. M. L., Heijboer, R. J. J., Keizer, K., Tielbeek, A., den Hertog, H. M. & MR CLEAN Investigators, Aug 2019, In : Stroke. 50, 8, p. 2037-2043 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Cognitive development in absence epilepsy during long-term follow-up

Wald, E. L. A. F., Klinkenberg, S., Voncken, T. P. C., Ebus, S. C. M., Aldenkamp, A. P., Vles, J. S. H., Vermeulen, R. J., Hendriksen, J. G. M. & Debeij-Van Hall, M. H. J. A., 17 Nov 2019, In : Child Neuropsychology. 25, 8, p. 1003-1021 19 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Collateral Circulation and Outcome in Atherosclerotic Versus Cardioembolic Cerebral Large Vessel Occlusion

Guglielmi, V., LeCouffe, N. E., Zinkstok, S. M., Compagne, K. C. J., Eker, R., Treurniet, K. M., Tolhuisen, M. L., van der Worp, H. B., Jansen, I. G. H., van Oostenbrugge, R. J., Marquering, H. A., Dippel, D. W. J., Emmer, B. J., Majoie, C. B. L. M., Roos, Y. B. W. E. M., Coutinho, J. M., van der Lugt, A., van Zwam, W. H., Boiten, J., Vos, J. A. & 31 others, Mulder, M. J. H. L., Goldhoorn, R-J. B., Kappelhof, M., Schonewille, W. J., Wermer, M. J. H., van Walderveen, M. A. A., Staals, J., Hofmeijer, J., Martens, J. M., Nijeholt, G. J. L. A., Roozenbeek, B., de Bruijn, S. F., van Dijk, L. C., Lo, R. H., van Dijk, E. J., Boogaarts, H. D., de Kort, P. L. M., Peluso, J. P., van den Berg, J. S. P., van Hasselt, B. A. A. M., Aerden, L. A. M., Dallinga, R. J., Uyttenboogaart, M., Eshghi, O., Schreuder, T. H. C. M. L., Heijboer, R. J. J., Keizer, K., Postma, A. A., Hinsenveld, W., Groot, P. F. C. & MR CLEAN Registry Investigators, Dec 2019, In : Stroke. 50, 12, p. 3360-3368 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Comparison of three commonly used CT perfusion software packages in patients with acute ischemic stroke

Koopman, M. S., Berkhemer, O. A., Geuskens, R. R. E. G., Emmer, B. J., van Walderveen, M. A. A., Jenniskens, S. F. M., van Zwam, W. H., van Oostenbrugge, R. J., van der Lugt, A., Dippel, D. W. J., Beenen, L. F., Roos, Y. B. W. E. M., Marquering, H. A., Majoie, C. B. L. M. & MR CLEAN Trial Investigators, Dec 2019, In : Journal of Neurointerventional Surgery. 11, 12, p. 1249-1256 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Correction to: Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury

Konigs, M., Pouwels, P. J. W., van Heurn, L. W. E., Bakx, R., Vermeulen, R. J., Goslings, J. C., Poll-The, B. T., van der Wees, M., Catsman-Berrevoets, C. E. & Oosterlaan, J., Aug 2019, In : Brain Imaging and Behavior. 13, 4, p. 1183-1183 1 p.

Research output: Contribution to journalErratum / corrigendumAcademic

Correlation of different cellular assays to analyze T cell-related cytokine profiles in vitamin D-3-supplemented patients with multiple sclerosis

Rolf, L., Smolders, J., van den Ouweland, J., Hupperts, R. & Damoiseaux, J., Jan 2019, In : Molecular Immunology. 105, p. 198-204 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy

van Tol, W., van Scherpenzeel, M., Alsady, M., Riemersma, M., Hermans, E., Kragt, E., Tasca, G., Kamsteeg, E-J., Pennings, M., van Beusekom, E., Vermeulen, J. R., van Bokhoven, H., Voermans, N. C., Willemsen, M. A., Ashikov, A. & Lefeber, D. J., Oct 2019, In : Clinical Chemistry. 65, 10, p. 1295-1306 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Deep brain stimulation of the anterior nucleus of the thalamus for drug-resistant epilepsy

van der Vlis, T. A. M. B., Schijns, O. E. M. G., Schaper, F. L. W. V. J., Hoogland, G., Kubben, P., Wagner, L., Rouhl, R., Temel, Y. & Ackermans, L., Jun 2019, In : Neurosurgical Review. 42, 2, p. 287-296 10 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease?

Quarrell, O. W. J., Nance, M. A., Nopoulos, P., Reilmann, R., Oosterloo, M., Tabrizi, S. J., Furby, H., Saft, C., Roos, R. A. C., Squitieri, F., Landwehrmeyer, G. B., Burgunder, J-M. & European Huntington Dis Network, Apr 2019, In : Movement Disorders. 34, 4, p. 584-585 2 p.

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Frints, S. G. M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H. H., Hunt, D., Mendelsohn, B. A., Kordass, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Fernandez-Jaen, A., van Roozendaal, K., Stevens, S. J. C., Macville, M. V. E., Al-Nasiry, S., van Gassen, K., Utzig, N. & 18 others, Koudijs, S. M., McGregor, L., Maas, S. M., Baralle, D., Dixit, A., Wieacker, P., Lee, M., Lee, A. S., Engle, E. C., Houge, G., Gradek, G. A., Douglas, A. G. L., Longman, C., Joss, S., Velasco, D., Hennekam, R. C., Hirata, H. & Kalscheuer, V. M., Dec 2019, In : Human Mutation. 40, 12, p. 2270-2285 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Determinants of extended door-to-needle time in acute ischemic stroke and its influence on in-hospital mortality: results of a nationwide Dutch clinical audit

Kuhrij, L. S., Marang-van de Mheen, P. J., van den Berg-Vos, R. M., de Leeuw, F-E., Nederkoorn, P. J., Lingsma, H. F., the Dutch Acute Stroke Audit consortium & Staals, J., 4 Nov 2019, In : BMC Neurology. 19, 1, 8 p., 265.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, F. M., van Ool, J. S., Verhoeven, J. S., van Mierlo, P., Braakman, H. M. H., Smeets, E. E., Nicolai, J., Schoots, J., Teunissen, M. W. A., Rouhl, R. P. W., Tan, I. Y., Yntema, H. G., Brunner, H. G., Pfundt, R., Stegmann, A. P., Kamsteeg, E-J., Schelhaas, H. J. & Willemsen, M. H., Jan 2019, In : Epilepsia. 60, 1, p. 155-164 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diepe hersenstimulatie bij de ziekte van Parkinson

Duits, A. A., Munneke, M., Aalderink, C. J., Kuijf, M. L., Bloem, B. R. & Esselink, R. A. J., 6 Aug 2019, In : Nederlands Tijdschrift voor Geneeskunde. 163, D3838.

Research output: Contribution to journalArticleAcademic