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Risk of Bilateral Testicular Germ Cell Cancer in Denmark: 1960–1984.
Published in:
JNCI: Journal of the National Cancer Institute, 1991, v. 83, n. 19, p. 1391, doi. 10.1093/jnci/83.19.1391
By:
- Østerlind, Anne;
- Berthelsen, Jørgen G.;
- Abildgaard, Niels;
- Hansen, Svenn Olfred;
- Hjalgrim, Helle;
- Johansen, Birger;
- Munck-Hansen, Jan;
- Rasmussen, Lene Hesse
Publication type:
Article
Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies.
Published in:
Journal of Child Neurology, 2014, v. 29, n. 5, p. 704, doi. 10.1177/0883073813505354
By:
- Baumgart, Anna;
- Spiczak, Sarah von;
- Verhoeven-Duif, Nanda M.;
- Møller, Rikke S.;
- Boor, Rainer;
- Muhle, Hiltrud;
- Jähn, Johanna A.;
- Klitten, Laura L.;
- Hjalgrim, Helle;
- Lindhout, Dick;
- Stephani, Ulrich;
- van Kempen, Marjan J. A.;
- Helbig, Ingo
Publication type:
Article
From unwitnessed fatality to witnessed rescue: Nonpharmacologic interventions in sudden unexpected death in epilepsy.
Published in:
Epilepsia (Series 4), 2016, v. 57, p. 26, doi. 10.1111/epi.13231
By:
- Rugg‐Gunn, Fergus;
- Duncan, John;
- Hjalgrim, Helle;
- Seyal, Masud;
- Bateman, Lisa
Publication type:
Article
The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009.
Published in:
Epilepsia (Series 4), 2015, v. 56, n. 4, p. e36, doi. 10.1111/epi.12927
By:
- Bayat, Allan;
- Hjalgrim, Helle;
- Møller, Rikke S.
Publication type:
Article
Quantitative analysis of surface electromyography during epileptic and nonepileptic convulsive seizures.
Published in:
Epilepsia (Series 4), 2014, v. 55, n. 7, p. 1128, doi. 10.1111/epi.12669
By:
- Beniczky, Sándor;
- Conradsen, Isa;
- Moldovan, Mihai;
- Jennum, Poul;
- Fabricius, Martin;
- Benedek, Krisztina;
- Andersen, Noémi;
- Hjalgrim, Helle;
- Wolf, Peter
Publication type:
Article
Standardized Computer-based Organized Reporting of EEG: SCORE.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 6, p. 1112, doi. 10.1111/epi.12135
By:
- Beniczky, Sándor;
- Aurlien, Harald;
- Brøgger, Jan C.;
- Fuglsang‐Frederiksen, Anders;
- Martins‐da‐Silva, António;
- Trinka, Eugen;
- Visser, Gerhard;
- Rubboli, Guido;
- Hjalgrim, Helle;
- Stefan, Hermann;
- Rosén, Ingmar;
- Zarubova, Jana;
- Dobesberger, Judith;
- Alving, Jørgen;
- Andersen, Kjeld V.;
- Fabricius, Martin;
- Atkins, Mary D.;
- Neufeld, Miri;
- Plouin, Perrine;
- Marusic, Petr
Publication type:
Article
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 5, p. e74, doi. 10.1111/epi.12124
By:
- Weckhuysen, Sarah;
- Holmgren, Philip;
- Hendrickx, Rik;
- Jansen, Anna C.;
- Hasaerts, Daniele;
- Dielman, Charlotte;
- Bellescize, Julitta;
- Boutry‐Kryza, Nadia;
- Lesca, Gaetan;
- Spiczak, Sarah Von;
- Helbig, Ingo;
- Gill, Deepak;
- Yendle, Simone;
- Møller, Rikke S.;
- Klitten, Laura;
- Korff, Christian;
- Godfraind, Catherine;
- Rijckevorsel, Kenou;
- Jonghe, Peter;
- Hjalgrim, Helle
Publication type:
Article
Detection of generalized tonic-clonic seizures by a wireless wrist accelerometer: A prospective, multicenter study.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 4, p. e58, doi. 10.1111/epi.12120
By:
- Beniczky, Sándor;
- Polster, Tilman;
- Kjaer, Troels W.;
- Hjalgrim, Helle
Publication type:
Article
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 2, p. 265, doi. 10.1111/epi.12084
By:
- Lal, Dennis;
- Trucks, Holger;
- Møller, Rikke S.;
- Hjalgrim, Helle;
- Koeleman, Bobby P. C.;
- Kovel, Carolien G. F.;
- Visscher, Frank;
- Weber, Yvonne G.;
- Lerche, Holger;
- Becker, Felicitas;
- Schankin, Christoph J.;
- Neubauer, Bernd A.;
- Surges, Rainer;
- Kunz, Wolfram S.;
- Zimprich, Fritz;
- Franke, Andre;
- Illig, Thomas;
- Ried, Janina S.;
- Leu, Costin;
- Nürnberg, Peter
Publication type:
Article
A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).
Published in:
Epilepsia (Series 4), 2011, v. 52, n. 12, p. e190, doi. 10.1111/j.1528-1167.2011.03304.x
By:
- Klitten, Laura L.;
- Møller, Rikke S.;
- Nikanorova, Marina;
- Silahtaroglu, Asli;
- Hjalgrim, Helle;
- Tommerup, Niels
Publication type:
Article
Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 3, p. 354, doi. 10.1002/ajmg.b.32036
By:
- Duong, Linh;
- Klitten, Laura L.;
- Møller, Rikke S.;
- Ingason, Andrés;
- Jakobsen, Klaus D.;
- Skjødt, Celina;
- Didriksen, Michael;
- Hjalgrim, Helle;
- Werge, Thomas;
- Tommerup, Niels
Publication type:
Article
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Published in:
Nature Genetics, 2014, v. 46, n. 12, p. 1327, doi. 10.1038/ng.3130
By:
- Schubert, Julian;
- Becker, Felicitas;
- Weber, Yvonne G;
- Lerche, Holger;
- Thiele, Holger;
- Konrad, Kathryn;
- Kawalia, Amit;
- Toliat, Mohammad R;
- Sander, Thomas;
- Rüschendorf, Franz;
- Caliebe, Almuth;
- Nagel, Inga;
- Kohl, Bernard;
- Riesch, Erik;
- Dorn, Thomas;
- Baulac, Stephanie;
- Møller, Rikke S;
- Hjalgrim, Helle;
- Jurkat-Rott, Karin;
- Lehman-Horn, Frank
Publication type:
Article
Structural genomic variation in childhood epilepsies with complex phenotypes.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 896, doi. 10.1038/ejhg.2013.262
By:
- Helbig, Ingo;
- Swinkels, Marielle E M;
- Aten, Emmelien;
- Caliebe, Almuth;
- van 't Slot, Ruben;
- Boor, Rainer;
- von Spiczak, Sarah;
- Muhle, Hiltrud;
- Jähn, Johanna A;
- van Binsbergen, Ellen;
- van Nieuwenhuizen, Onno;
- Jansen, Floor E;
- Braun, Kees P J;
- de Haan, Gerrit-Jan;
- Tommerup, Niels;
- Stephani, Ulrich;
- Hjalgrim, Helle;
- Poot, Martin;
- Lindhout, Dick;
- Brilstra, Eva H
Publication type:
Article
A nonsense mutation in FMR1 causing fragile X syndrome.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 4, p. 489, doi. 10.1038/ejhg.2010.223
By:
- Grønskov, Karen;
- Brøndum-Nielsen, Karen;
- Dedic, Alma;
- Hjalgrim, Helle
Publication type:
Article
Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.149
By:
- Klitten, Laura L.;
- Møller, Rikke S.;
- Ravn, Kirstine;
- Hjalgrim, Helle;
- Tommerup, Niels
Publication type:
Article
Screening of the ARX gene in 682 retarded males.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 9, p. 701, doi. 10.1038/sj.ejhg.5201222
By:
- Grnskov, Karen;
- Hjalgrim, Helle;
- Nielsen, Inge-Merete;
- Brøndum-Nielsen, Karen
Publication type:
Article
Analysis of FMR1 (CGG)<sub>n</sub> alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 7, p. 771, doi. 10.1038/sj.ejhg.5200374
By:
- Larsen, Lars Allan;
- Armstrong, Judith SM;
- Grønskov, Karen;
- Hjalgrim, Helle;
- Brøndum-Nielsen, Karen;
- Hasholt, Lis;
- Nørgaard-Pedersen, Bent;
- Vuust, Jens
Publication type:
Article
The provision of epilepsy care across Europe 2017: A 17‐year follow‐up survey.
Published in:
Epilepsia Open, 2019, v. 4, n. 1, p. 144, doi. 10.1002/epi4.12306
By:
- Zelano, Johan;
- Klecki, Judith;
- Christensen, Jakob;
- Tomson, Torbjörn;
- Malmgren, Kristina;
- Kruja, Jera;
- Trinka, Eugen;
- Boon, Paul;
- Basic, Silvio;
- Papacostas, Savvas;
- Marusic, Petr;
- Hjalgrim, Helle;
- Haldre, Sulev;
- Kälviäinen, Reetta;
- Derambure, Philippe;
- Kasradze, Sofia;
- Mayer, Thomas;
- Covanis, Athanasios;
- Rosdy, Beata;
- Costello, Danny
Publication type:
Article
‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 4, p. 1146, doi. 10.1093/brain/awt021
By:
- Boissé Lomax, Lysa;
- Bayly, Marta A.;
- Hjalgrim, Helle;
- Møller, Rikke S.;
- Vlaar, Annemarie M.;
- Aaberg, Kari M.;
- Marquardt, Iris;
- Gandolfo, Luke C.;
- Willemsen, Michèl;
- Kamsteeg, Erik-Jan;
- O’Sullivan, John D.;
- Korenke, G. Christoph;
- Bloem, Bastiaan R.;
- de Coo, Irenaeus F.;
- Verhagen, Judith M. A.;
- Said, Ines;
- Prescott, Trine;
- Stray-Pedersen, Asbjørg;
- Rasmussen, Magnhild;
- Vears, Danya F.
Publication type:
Article
Reply.
Published in:
2016
By:
- Gardella, Elena;
- Beniczky, Sándor;
- Møller, Rikke S.;
- Becker, Felicitas;
- Lemke, Johannes R.;
- Syrbe, Steffen;
- Eiberg, Hans;
- Bast, Thomas;
- Steinhoff, Bernhard;
- Nürnberg, Peter;
- Gellert, Pia;
- Dahl, Hans Atli;
- Weckhuysen, Sarah;
- Heron, Sarah E.;
- Dibbens, Leanne M.;
- Hjalgrim, Helle;
- Lerche, Holger;
- Weber, Yvonne G.;
- Beniczky, Sándor;
- Møller, Rikke S
Publication type:
Letter
Automated differentiation between epileptic and nonepileptic convulsive seizures.
Published in:
Annals of Neurology, 2015, v. 77, n. 2, p. 348, doi. 10.1002/ana.24338
By:
- Beniczky, Sándor;
- Conradsen, Isa;
- Moldovan, Mihai;
- Jennum, Poul;
- Fabricius, Martin;
- Benedek, Krisztina;
- Andersen, Noémi;
- Hjalgrim, Helle;
- Wolf, Peter
Publication type:
Article
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Published in:
Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 4, p. 457, doi. 10.1002/mgg3.217
By:
- Djémié, Tania;
- Weckhuysen, Sarah;
- Spiczak, Sarah;
- Carvill, Gemma L.;
- Jaehn, Johanna;
- Anttonen, Anna‐Kaisa;
- Brilstra, Eva;
- Caglayan, Hande S.;
- Kovel, Carolien G.;
- Depienne, Christel;
- Gaily, Eija;
- Gennaro, Elena;
- Giraldez, Beatriz G.;
- Gormley, Padhraig;
- Guerrero‐López, Rosa;
- Guerrini, Renzo;
- Hämäläinen, Eija;
- Hartmann, Corinna;
- Hernandez‐Hernandez, Laura;
- Hjalgrim, Helle
Publication type:
Article
Dysregulation of FOXG1 by ring chromosome 14.
Published in:
Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0129-4
By:
- Alosi, Daniela;
- Klitten, Laura Line;
- Bak, Mads;
- Hjalgrim, Helle;
- Møller, Rikke Steensbjerre;
- Tommerup, Niels
Publication type:
Article
Skin cancer as a cause of death in Denmark.
Published in:
British Journal of Dermatology, 1991, v. 125, n. 6, p. 580, doi. 10.1111/j.1365-2133.1991.tb14799.x
By:
- Østerlind, Anne;
- Hjalgrim, Helle;
- Kulinsky, Barbara;
- Frentz, Gerda
Publication type:
Article
The Presence of Attention-Deficit Hyperactivity Disorder (ADHD) and Obsessive-Compulsive Disorder Worsen Psychosocial and Educational Problems in Tourette Syndrome.
Published in:
Journal of Child Neurology, 2010, v. 25, n. 2, p. 171, doi. 10.1177/0883073809336215
By:
- Debes, Nanette;
- Hjalgrim, Helle;
- Skov, Liselotte
Publication type:
Article
The Presence of Comorbidity in Tourette Syndrome Increases the Need for Pharmacological Treatment.
Published in:
Journal of Child Neurology, 2009, v. 24, n. 12, p. 1504, doi. 10.1177/0883073808331363
By:
- Debes, Nanette M. M. M.;
- Hjalgrim, Helle;
- Skov, Liselotte
Publication type:
Article
Validation of the Presence of Comorbidities in a Danish Clinical Cohort of Children With Tourette Syndrome.
Published in:
Journal of Child Neurology, 2008, v. 23, n. 9, p. 1017, doi. 10.1177/0883073808316370
By:
- Mol Debes, Nanette M. M.;
- Hjalgrim, Helle;
- Skov, Liselotte
Publication type:
Article
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 15, p. 1591, doi. 10.1093/hmg/10.15.1591
By:
- Baere, Elfride De;
- Dixon, Michael J.;
- Small, Kent W.;
- Jabs, Ethylin W.;
- Leroy, Bart P.;
- Devriendt, Koenraad;
- Gillerot, Yves;
- Mortier, Geert;
- Meire, Françoise;
- Maldergem, Lionel Van;
- Courtens, Winnie;
- Hjalgrim, Helle;
- Huang, Shangzhi;
- Liebaers, Inge;
- Regemorter, Nicole Van;
- Praphanphoj, Verayuth;
- Verloes, Alain;
- Udar, Nitin;
- Yellore, Vivek;
- Chalukya, Meenal
Publication type:
Article
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter.
Published in:
BMC Medical Genetics, 2005, v. 6, p. 21, doi. 10.1186/1471-2350-6-21
By:
- Marie Sogaard;
- Zeynep Tumer;
- Helle Hjalgrim;
- Johanne Hahnemann;
- Birgitte Friis;
- Paal Ledaal;
- Vibeke Faurholt Pedersen;
- Peter Baekgaard;
- Niels Tommerup;
- Sultan Cingoz;
- Morten Duno;
- Karen Brondum-Nielsen
Publication type:
Article

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