Works by Schelhaas, Helenius J.

Results: 24

Mood, anxiety, and perceived quality of life in adults with epilepsy and intellectual disability.

Published in:

Acta Neurologica Scandinavica, 2019, v. 139, n. 6, p. 519, doi. 10.1111/ane.13085

By:

Snoeijen‐Schouwenaars, Francesca M.;
van Ool, Jans S.;
Tan, In Y.;
Aldenkamp, Albert P.;
Schelhaas, Helenius J.;
Hendriksen, Jos G. M.

Publication type:

Article

Autoantibodies to cytosolic 5'-nucleotidase 1A in inclusion body myositis.

Published in:

2013

By:

Pluk, Helma;
van Hoeve, Bas J A;
van Dooren, Sander H J;
Stammen-Vogelzangs, Judith;
van der Heijden, Annemarie;
Schelhaas, Helenius J;
Verbeek, Marcel M;
Badrising, Umesh A;
Arnardottir, Snjolaug;
Gheorghe, Karina;
Lundberg, Ingrid E;
Boelens, Wilbert C;
van Engelen, Baziel G;
Pruijn, Ger J M

Publication type:

Journal Article

Autoantibodies to cytosolic 5′-nucleotidase 1A in inclusion body myositis.

Published in:

Annals of Neurology, 2013, v. 73, n. 3, p. 397, doi. 10.1002/ana.23822

By:

Pluk, Helma;
Hoeve, Bas J. A.;
Dooren, Sander H. J.;
Stammen‐Vogelzangs, Judith;
Heijden, Annemarie;
Schelhaas, Helenius J.;
Verbeek, Marcel M.;
Badrising, Umesh A.;
Arnardottir, Snjolaug;
Gheorghe, Karina;
Lundberg, Ingrid E.;
Boelens, Wilbert C.;
Engelen, Baziel G.;
Pruijn, Ger J. M.

Publication type:

Article

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

Published in:

Annals of Neurology, 2012, v. 72, n. 6, p. 870, doi. 10.1002/ana.23700

By:

Duarri, Anna;
Jezierska, Justyna;
Fokkens, Michiel;
Meijer, Michel;
Schelhaas, Helenius J.;
den Dunnen, Wilfred F. A.;
van Dijk, Freerk;
Verschuuren-Bemelmans, Corien;
Hageman, Gerard;
van de Vlies, Pieter;
Küsters, Benno;
van de Warrenburg, Bart P.;
Kremer, Berry;
Wijmenga, Cisca;
Sinke, Richard J.;
Swertz, Morris A.;
Kampinga, Harm H.;
Boddeke, Erik;
Verbeek, Dineke S.

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

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.

Published in:

Annals of Neurology, 2011, v. 70, n. 6, p. 964, doi. 10.1002/ana.22611

By:

van Es, Michael A.;
Schelhaas, Helenius J.;
van Vught, Paul W. J.;
Ticozzi, Nicola;
Andersen, Peter M.;
Groen, Ewout J. N.;
Schulte, Claudia;
Blauw, Hylke M.;
Koppers, Max;
Diekstra, Frank P.;
Fumoto, Katsumi;
LeClerc, Ashley Lyn;
Keagle, Pamela;
Bloem, Bastiaan R.;
Scheffer, Hans;
van Nuenen, Bart F. L.;
van Blitterswijk, Marka;
van Rheenen, Wouter;
Wills, Anne-Marie;
Lowe, Patrick P.

Publication type:

Article

Psychogenic non‐epileptic (functional) seizures in adults with intellectual disability and epilepsy: A matched case–control study.

Published in:

Epilepsia (Series 4), 2024, v. 65, n. 10, p. 3083, doi. 10.1111/epi.18085

By:

Kloosterman, Iris E. M.;
Haenen, Alexandra I.;
Poortvliet‐Koedam, Esther L. G. E.;
Lazeron, Richard H. C.;
Schelhaas, Helenius J.;
van Ool, Jans S.

Publication type:

Article

Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Published in:

Epilepsia (Series 4), 2024, v. 65, n. 9, p. 2728, doi. 10.1111/epi.18054

By:

Cuccurullo, Claudia;
Cerulli Irelli, Emanuele;
Ugga, Lorenzo;
Riva, Antonella;
D'Amico, Alessandra;
Cabet, Sara;
Lesca, Gaetan;
Bilo, Leonilda;
Zara, Federico;
Iliescu, Catrinel;
Barca, Diana;
Fung, France;
Helbig, Katherine;
Ortiz‐Gonzalez, Xilma;
Schelhaas, Helenius J.;
Willemsen, Marjolein H.;
van der Linden, Inge;
Canafoglia, Laura;
Courage, Carolina;
Gommaraschi, Samuele

Publication type:

Article

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.

Published in:

Nature Genetics, 2008, v. 40, n. 1, p. 29, doi. 10.1038/ng.2007.52

By:

van Es, Michael A.;
van Vught, Paul W. J.;
Blauw, Hylke M.;
Franke, Lude;
Saris, Christiaan G. J.;
Van Den Bosch, Ludo;
de Jong, Sonja W.;
de Jong, Vianney;
Baas, Frank;
van't Slot, Ruben;
Lemmens, Robin;
Schelhaas, Helenius J.;
Birve, Anna;
Sleegers, Kristel;
Van Broeckhoven, Christine;
Schymick, Jennifer C.;
Traynor, Bryan J.;
Wokke, John H. J.;
Wijmenga, Cisca;
Robberecht, Wim

Publication type:

Article

Efficacy and tolerability of brivaracetam in patients with intellectual disability and epilepsy.

Published in:

Acta Neurologica Belgica, 2021, v. 121, n. 3, p. 677, doi. 10.1007/s13760-020-01324-3

By:

Gillis, Ruby M. E.;
Wammes-van der Heijden, Elisabeth A.;
Schelhaas, Helenius J.;
Tan, In Y.;
Festen, Dederieke A. M.;
Majoie, Marian H. J. M.

Publication type:

Article

Hereditary spastic paraplegia caused by a mutation in the VCP gene.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. e223, doi. 10.1093/brain/aws201

By:

de Bot, Susanne T.;
Schelhaas, Helenius J.;
Kamsteeg, Erik-Jan;
van de Warrenburg, Bart P.C.

Publication type:

Article

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 3, p. 723

By:

Simón-Sánchez, Javier;
Dopper, Elise G. P.;
Cohn-Hokke, Petra E.;
Hukema, Renate K.;
Nicolaou, Nayia;
Seelaar, Harro;
de Graaf, J. Roos A.;
de Koning, Inge;
van Schoor, Natasja M.;
Deeg, Dorly J. H.;
Smits, Marion;
Raaphorst, Joost;
van den Berg, Leonard H.;
Schelhaas, Helenius J.;
De Die-Smulders, Christine E. M.;
Majoor-Krakauer, Danielle;
Rozemuller, Annemieke J. M.;
Willemsen, Rob;
Pijnenburg, Yolande A. L.;
Heutink, Peter

Publication type:

Article

SCA19 and SCA22: evidence for one locus with a worldwide distribution.

Published in:

Brain: A Journal of Neurology, 2004, v. 127, n. 1, p. 6

By:

Helenius J. Schelhaas;
Dineke S. Verbeek;
Bart P. C. Van de Warrenburg;
Richard J. Sinke

Publication type:

Article

CSF neurofilament protein analysis in the differential diagnosis of ALS.

Published in:

Journal of Neurology, 2009, v. 256, n. 4, p. 615, doi. 10.1007/s00415-009-0131-z

By:

Thierry S. Reijn;
Wilson F. Abdo;
Helenius J. Schelhaas;
Verbeek, Marcel M.

Publication type:

Article

Smoking, Alcohol Consumption, and the Risk of Amyotrophic Lateral Sclerosis: A Population-based Study.

Published in:

American Journal of Epidemiology, 2012, v. 176, n. 3, p. 233, doi. 10.1093/aje/kws015

By:

De Jong, Sonja W.;
Huisman, Mark H. B.;
Sutedja, Nadia A.;
Van Der Kooi, Anneke J.;
De Visser, Marianne;
Schelhaas, Helenius J.;
Fischer, Kathelijn;
Veldink, Jan H.;
Van Den Berg, Leonard H.

Publication type:

Article

Accuracy of WISC-III and WAIS-IV short forms in patients with neurological disorders.

Published in:

Developmental Neurorehabilitation, 2018, v. 21, n. 2, p. 101, doi. 10.1080/17518423.2016.1277799

By:

van Ool, Jans S.;
Hurks, Petra P.M.;
Snoeijen-Schouwenaars, Francesca M.;
Tan, In Y.;
Schelhaas, Helenius J.;
Klinkenberg, Sylvia;
Aldenkamp, Albert P.;
Hendriksen, Jos G.M.

Publication type:

Article

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1312, doi. 10.1038/ejhg.2013.27

By:

de Bot, Susanne T;
Burggraaff, Rogier C;
Herkert, Johanna C;
Schelhaas, Helenius J;
Post, Bart;
Diekstra, Adinda;
van Vliet, Reinout O;
van der Knaap, Marjo S;
Kamsteeg, Erik-Jan;
Scheffer, Hans;
van de Warrenburg, Bart P;
Verschuuren-Bemelmans, Corien C;
Kremer, Hubertus PH

Publication type:

Article

Monitoring disease progression using high-density motor unit number estimation in amyotrophic lateral sclerosis.

Published in:

Muscle & Nerve, 2010, v. 42, n. 2, p. 239, doi. 10.1002/mus.21680

By:

van Dijk, Johannes P.;
Schelhaas, Helenius J.;
Van Schaik, Ivo N.;
Janssen, Henny M.H.A.;
Stegeman, Dick F.;
Zwarts, Machiel J.

Publication type:

Article

Effect of small motor unit potentials on the motor unit number estimate.

Published in:

Muscle & Nerve, 2008, v. 38, n. 1, p. 887, doi. 10.1002/mus.21003

By:

van Dijk, Johannes P.;
Zwarts, Machiel J.;
Schelhaas, Helenius J.;
Stegeman, Dick F.

Publication type:

Article

Evidence for an oligogenic basis of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3776, doi. 10.1093/hmg/dds199

By:

van Blitterswijk, Marka;
van Es, Michael A.;
Hennekam, Eric A.M.;
Dooijes, Dennis;
van Rheenen, Wouter;
Medic, Jelena;
Bourque, Pierre R.;
Schelhaas, Helenius J.;
van der Kooi, Anneke J.;
de Visser, Marianne;
de Bakker, Paul I.W.;
Veldink, Jan H.;
van den Berg, Leonard H.

Publication type:

Article

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2412, doi. 10.1093/hmg/dds055

By:

Herdewyn, Sarah;
Zhao, Hui;
Moisse, Matthieu;
Race, Valérie;
Matthijs, Gert;
Reumers, Joke;
Kusters, Benno;
Schelhaas, Helenius J.;
van den Berg, Leonard H.;
Goris, An;
Robberecht, Wim;
Lambrechts, Diether;
Van Damme, Philip

Publication type:

Article

Genetic Overlap between Apparently Sporadic Motor Neuron Diseases.

Published in:

PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048983

By:

van Blitterswijk, Marka;
Vlam, Lotte;
van Es, Michael A.;
van der Pol, W-Ludo;
Hennekam, Eric A. M.;
Dooijes, Dennis;
Schelhaas, Helenius J.;
van der Kooi, Anneke J.;
de Visser, Marianne;
Veldink, Jan H.;
van den Berg, Leonard H.

Publication type:

Article

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5153, doi. 10.1093/brain/awad245

By:

Hugte, Eline J H van;
Lewerissa, Elly I;
Wu, Ka Man;
Scheefhals, Nicky;
Parodi, Giulia;
Voorst, Torben W van;
Puvogel, Sofia;
Kogo, Naoki;
Keller, Jason M;
Frega, Monica;
Schubert, Dirk;
Schelhaas, Helenius J;
Verhoeven, Judith;
Majoie, Marian;
Bokhoven, Hans van;
Kasri, Nael Nadif

Publication type:

Article

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

Published in:

Nature Genetics, 2009, v. 41, n. 10, p. 1083, doi. 10.1038/ng.442

By:

van Es, Michael A.;
Veldink, Jan H.;
Saris, Christiaan G. J.;
Blauw, Hylke M.;
van Vught, Paul W. J.;
Birve, Anna;
Lemmens, Robin;
Schelhaas, Helenius J.;
Groen, Ewout J. N.;
Huisman, Mark H. B.;
van der Kooi, Anneke J.;
de Visser, Marianne;
Dahlberg, Caroline;
Estrada, Karol;
Rivadeneira, Fernando;
Hofman, Albert;
Zwarts, Machiel J.;
van Doormaal, Perry T. C.;
Rujescu, Dan;
Strengman, Eric

Publication type:

Article