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Anterior Opercular Syndrome as a First Presentation of Herpes Simplex Encephalitis.
Published in:
Journal of Child Neurology, 2014, v. 29, n. 4, p. 560, doi. 10.1177/0883073813482768
By:
- De Kleermaeker, Floriaan G. C. M.;
- Bouwmans, Angela E. P.;
- Nicolai, Joost;
- Klinkenberg, Sylvia
Publication type:
Article
Interobserver agreement of the old and the newly proposed ILAE epilepsy classification in children.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 4, p. 726, doi. 10.1111/epi.12111
By:
- Campen, Jolien S.;
- Jansen, Floor E.;
- Brouwer, Oebele F.;
- Nicolai, Joost;
- Braun, Kees P. J.
Publication type:
Article
The cognitive effects of interictal epileptiform EEG discharges and short nonconvulsive epileptic seizures.
Published in:
Epilepsia (Series 4), 2012, v. 53, n. 6, p. 1051, doi. 10.1111/j.1528-1167.2012.03491.x
By:
- Nicolai, Joost;
- Ebus, Saskia;
- Biemans, Danielle P. L. J. J. G.;
- Arends, Johan;
- Hendriksen, Jos;
- Vles, Johan S. H.;
- Aldenkamp, Albert P.
Publication type:
Article
EEG Characteristics Related to Educational Impairments in Children with Benign Childhood Epilepsy with Centrotemporal Spikes.
Published in:
Epilepsia (Series 4), 2007, v. 48, n. 11, p. 2093, doi. 10.1111/j.1528-1167.2007.01203.x
By:
- Nicolai, Joost;
- van der Linden, Inge;
- Arends, Johan B. A. M.;
- van Mil, Saskia G. M.;
- Weber, Jacobiene W.;
- Vles, Johan S. H.;
- Aldenkamp, Albert P.
Publication type:
Article
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
Published in:
Human Genetics, 2009, v. 125, n. 5/6, p. 581, doi. 10.1007/s00439-009-0653-6
By:
- van Kuilenburg, André B. P.;
- Meijer, Judith;
- Mul, Adri N. P. M.;
- Hennekam, Raoul C. M.;
- Hoovers, Jan M. N.;
- de Die-Smulders, Christine E. M.;
- Weber, Peter;
- Mori, Andrea Capone;
- Bierau, Jörgen;
- Fowler, Brian;
- Macke, Klaus;
- Sass, Jörn Oliver;
- Meinsma, Rutger;
- Hennermann, Julia B.;
- Miny, Peter;
- Zoetekouw, Lida;
- Vijzelaar, Raymon;
- Nicolai, Joost;
- Ylstra, Bauke;
- Rubio-Gozalbo, M. Estela
Publication type:
Article
Pediatric delirium in critical illness: phenomenology, clinical correlates and treatment response in 40 cases in the pediatric intensive care unit.
Published in:
Intensive Care Medicine, 2007, v. 33, n. 6, p. 1033, doi. 10.1007/s00134-007-0637-8
By:
- Schieveld, Jan N. M.;
- Leroy, Piet L. J. M.;
- van Os, Jim;
- Nicolai, Joost;
- Vos, Gijs D.;
- Leentjens, Albert F. G.
Publication type:
Article
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 1, p. 155, doi. 10.1111/epi.14618
By:
- Snoeijen‐Schouwenaars, Francesca M.;
- van Ool, Jans S.;
- Tan, In Y.;
- Verhoeven, Judith S.;
- Mierlo, Petra;
- Braakman, Hilde M. H.;
- Schelhaas, Helenius J.;
- Nicolai, Joost;
- Smeets, Eric E.;
- Stegmann, Alexander P.;
- Brunner, Han G.;
- Willemsen, Marjolein H.;
- Rouhl, Rob P. W.;
- Schoots, Jeroen;
- Yntema, Helger G.;
- Pfundt, Rolph;
- Kamsteeg, Erik‐Jan;
- Teunissen, Mariel W. A.
Publication type:
Article
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A‐related seizure phenotypes.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1154, doi. 10.1111/epi.14191
By:
- de Lange, Iris M.;
- Sonsma, Anja C. M.;
- van Kempen, Marjan;
- Verbeek, Nienke E.;
- Knoers, Nine V. A. M.;
- Koeleman, Bobby P. C.;
- Brilstra, Eva H.;
- Gunning, Boudewijn;
- van Gemert, Lisette;
- Nicolai, Joost
Publication type:
Article
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Published in:
Epilepsia (Series 4), 2017, v. 58, n. 3, p. 436, doi. 10.1111/epi.13676
By:
- Mulkey, Sarah B.;
- Ben‐Zeev, Bruria;
- Nicolai, Joost;
- Carroll, John L.;
- Grønborg, Sabine;
- Jiang, Yong‐hui;
- Joshi, Nishtha;
- Kelly, Megan;
- Koolen, David. A.;
- Mikati, Mohamad A.;
- Park, Kristen;
- Pearl, Phillip L.;
- Scheffer, Ingrid E.;
- Spillmann, Rebecca C.;
- Taglialatela, Maurizio;
- Vieker, Silvia;
- Weckhuysen, Sarah;
- Cooper, Edward C.;
- Cilio, Maria Roberta
Publication type:
Article
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy.
Published in:
Human Mutation, 2015, v. 36, n. 1, p. 69, doi. 10.1002/humu.22709
By:
- Lee, Jae‐Ran;
- Srour, Myriam;
- Kim, Doyoun;
- Hamdan, Fadi. F.;
- Lim, So‐Hee;
- Brunel‐Guitton, Catherine;
- Décarie, Jean‐Claude;
- Rossignol, Elsa;
- Mitchell, Grant A.;
- Schreiber, Allison;
- Moran, Rocio;
- Haren, Keith;
- Richardson, Randal;
- Nicolai, Joost;
- Oberndorff, Karin M.E.J.;
- Wagner, Justin D.;
- Boycott, Kym M.;
- Rahikkala, Elisa;
- Junna, Nella;
- Tyynismaa, Henna
Publication type:
Article

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