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Episodic unilateral mydriasis and recurrent headache.
Published in:
Cephalalgia Reports, 2018, v. 1, p. 1, doi. 10.1177/2515816318772305
By:
- Maas, Roderick P. P. W. M.;
- Verrips, Aad
Publication type:
Article
The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies.
Published in:
2020
By:
- Verrips, Aad;
- Dotti, Maria Teresa;
- Mignarri, Andrea;
- Stelten, Bianca M. L.;
- Verma, Sue;
- Federico, Antonio
Publication type:
journal article
Bile acid deconjugation by Lactobacilli and its effects in patients with a short small bowel.
Published in:
2000
By:
- Bongaerts, Ger P. A.;
- Severijnen, René S. V. M.;
- Tangerman, Albert;
- Verrips, Aad;
- Tolboom, Jules J. M.;
- Bongaerts, G P;
- Severijnen, R S;
- Tangerman, A;
- Verrips, A;
- Tolboom, J J
Publication type:
journal article
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.
Published in:
2016
By:
- Huidekoper, Hidde;
- Vaz, Frédéric;
- Verrips, Aad;
- Bosch, Annet;
- Huidekoper, Hidde H;
- Vaz, Frédéric M;
- Bosch, Annet M
Publication type:
journal article
Extremely Painful Multifocal Acquired Predominant Axonal Sensorimotor Neuropathy of the Upper Limb.
Published in:
Journal of Ultrasound in Medicine, 2018, v. 37, n. 6, p. 1565, doi. 10.1002/jum.14492
By:
- Lieba‐Samal, Doris;
- van Rosmalen, Marieke H. J.;
- van Balken, Irene M. F.;
- van Alfen, Nens;
- van Eijk, Jeroen J. J.;
- Verrips, Aad;
- Pillen, Sigrid;
- Mostert, Jop
Publication type:
Article
Reply: To PMID 24817269.
Published in:
2015
By:
- Pillen, Sigrid;
- Semmekrot, Ben;
- Meulstee, Jan;
- Verrips, Aad;
- van Alfen, Nens
Publication type:
Letter
Reply.
Published in:
Muscle & Nerve, 2015, v. 51, n. 4, p. 626, doi. 10.1002/mus.24511
By:
- Pillen, Sigrid;
- Semmekrot, Ben;
- Meulstee, Jan;
- Verrips, Aad;
- van Alfen, Nens
Publication type:
Article
Ultrasound of the cervical roots and brachial plexus in neonates.
Published in:
Muscle & Nerve, 2015, v. 51, n. 1, p. 35, doi. 10.1002/mus.24284
By:
- Pillen, Sigrid;
- Semmekrot, Ben;
- Meulstee, Jan;
- Verrips, Aad;
- Alfen, Nens
Publication type:
Article
Further delineation of the KBG syndrome caused by ANKRD11 aberrations.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1270, doi. 10.1038/ejhg.2015.130
By:
- Ockeloen, Charlotte W;
- Willemsen, Marjolein H;
- de Munnik, Sonja;
- van Bon, Bregje WM;
- de Leeuw, Nicole;
- Verrips, Aad;
- Kant, Sarina G;
- Jones, Elizabeth A;
- Brunner, Han G;
- van Loon, Rosa LE;
- Smeets, Eric EJ;
- van Haelst, Mieke M;
- van Haaften, Gijs;
- Nordgren, Ann;
- Malmgren, Helena;
- Grigelioniene, Giedre;
- Vermeer, Sascha;
- Louro, Pedro;
- Ramos, Lina;
- Maal, Thomas JJ
Publication type:
Article
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1176, doi. 10.1038/ejhg.2014.253
By:
- Ockeloen, Charlotte W;
- Willemsen, Marjolein H;
- de Munnik, Sonja;
- van Bon, Bregje WM;
- de Leeuw, Nicole;
- Verrips, Aad;
- Kant, Sarina G;
- Jones, Elizabeth A;
- Brunner, Han G;
- van Loon, Rosa LE;
- Smeets, Eric EJ;
- van Haelst, Mieke M;
- van Haaften, Gijs;
- Nordgren, Ann;
- Malmgren, Helena;
- Grigelioniene, Giedre;
- Vermeer, Sascha;
- Louro, Pedro;
- Ramos, Lina;
- Maal, Thomas JJ
Publication type:
Article
Cerebrotendinous xanthomatosis‐associated diarrhea and response to chenodeoxycholic acid treatment.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 105, doi. 10.1002/jmd2.12163
By:
- Brass, Eric P.;
- Stelten, Bianca M.L.;
- Verrips, Aad
Publication type:
Article
Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study.
Published in:
2021
By:
- Stelten, Bianca M. L.;
- Dotti, Maria Teresa;
- Verrips, Aad;
- Elibol, Bülent;
- Falik-Zaccai, Tzipora C.;
- Hanman, Kate;
- Mignarri, Andrea;
- Sithole, Belina;
- Steiner, Robert D.;
- Verma, Surabhi;
- Yahalom, Gilad;
- Zubarioglu, Tanyel;
- Mochel, Fanny;
- Federico, Antonio
Publication type:
journal article
Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 4, p. 1081, doi. 10.1093/brain/aws025
By:
- Klooster, Rinse;
- Plomp, Jaap J.;
- Huijbers, Maartje G.;
- Niks, Erik H.;
- Straasheijm, Kirsten R.;
- Detmers, Frank J.;
- Hermans, Pim W.;
- Sleijpen, Kevin;
- Verrips, Aad;
- Losen, Mario;
- Martinez-Martinez, Pilar;
- De Baets, Marc H.;
- van der Maarel, Silvère M.;
- Verschuuren, Jan J.
Publication type:
Article
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
By:
- Hayhurst, Hannah;
- de Coo, Irenaeus F. M.;
- Piekutowska‐Abramczuk, Dorota;
- Alston, Charlotte L.;
- Sharma, Sunil;
- Thompson, Kyle;
- Rius, Rocio;
- He, Langping;
- Hopton, Sila;
- Ploski, Rafal;
- Ciara, Elzbieta;
- Lake, Nicole J.;
- Compton, Alison G.;
- Delatycki, Martin B.;
- Verrips, Aad;
- Bonnen, Penelope E.;
- Jones, Simon A.;
- Morris, Andrew A.;
- Shakespeare, David;
- Christodoulou, John
Publication type:
Article
The value of routine creatine kinase and thyroid stimulating hormone testing in patients with suspected fibromyalgia: a cross-sectional study.
Published in:
Rheumatology, 2016, v. 55, n. 7, p. 1273, doi. 10.1093/rheumatology/kew046
By:
- Lesuis, Nienke;
- van Vliet, Judith;
- Boers, Nadine;
- den Broeder, Nathan;
- Cats, Hans;
- Hulscher, Marlies E. J. L.;
- Verrips, Aad;
- den Broeder, Alfons A.
Publication type:
Article
Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Published in:
Clinical Genetics, 2019, v. 96, n. 2, p. 126, doi. 10.1111/cge.13544
By:
- ten Dam, Leroy;
- Frankhuizen, Wendy S.;
- Linssen, Wim H.J.P.;
- Straathof, Chiara S.;
- Niks, Erik H.;
- Faber, Karin;
- Fock, Annemarie;
- Kuks, Jan B.;
- Brusse, Esther;
- de Coo, René;
- Voermans, Nicol;
- Verrips, Aad;
- Hoogendijk, Jessica E.;
- van der Pol, Ludo;
- Westra, Dineke;
- de Visser, Marianne;
- van der Kooi, Anneke J.;
- Ginjaar, Ieke
Publication type:
Article
It is in his eyes.
Published in:
Acta Neurologica Belgica, 2015, v. 115, n. 4, p. 721, doi. 10.1007/s13760-015-0486-0
By:
- Kasius, Kristel;
- Vrugt-Trienekens, Sonja;
- Verrips, Aad
Publication type:
Article
Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding.
Published in:
2020
By:
- Samkar, Anusha;
- Leen, Willemijn G.;
- Willemsen, Michèl A. A. P.;
- Verrips, Aad;
- van Samkar, Anusha
Publication type:
journal article
Glutamic acid decarboxylase antibodies in Satoyoshi syndrome.
Published in:
Annals of Neurology, 2004, v. 55, n. 3, p. 450
By:
- Gea Drost;
- Aad Verrips;
- Herbert Hooijkaas;
- Machiel Zwarts
Publication type:
Article
Five men with arresting and relapsing cerebral adrenoleukodystrophy.
Published in:
Journal of Neurology, 2021, v. 268, n. 3, p. 936, doi. 10.1007/s00415-020-10225-7
By:
- Carlson, Aaron M.;
- Huffnagel, Irene C.;
- Verrips, Aad;
- van der Knaap, Marjo S.;
- Engelen, Marc;
- Van Haren, Keith
Publication type:
Article
Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
Published in:
Journal of Neurology, 2013, v. 260, n. 7, p. 1765, doi. 10.1007/s00415-013-6870-x
By:
- Bot, Susanne;
- Vermeer, Sascha;
- Buijsman, Wendy;
- Heister, Angelien;
- Voorendt, Marsha;
- Verrips, Aad;
- Scheffer, Hans;
- Kremer, Hubertus;
- Warrenburg, Bart;
- Kamsteeg, Erik-Jan
Publication type:
Article
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 981, doi. 10.1002/jimd.12533
By:
- Koens, Lisette H.;
- Tuitert, Inge;
- Blokzijl, Hans;
- Engelen, Marc;
- Klouwer, Femke C. C.;
- Lange, Fiete;
- Leen, Wilhelmina G.;
- Lunsing, Roelineke J.;
- Koelman, Johannes H. T. M.;
- Verrips, Aad;
- de Koning, Tom J.;
- Tijssen, Marina A. J.
Publication type:
Article
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 641, doi. 10.1007/s10545-017-0086-7
By:
- Stelten, Bianca M. L.;
- Bonnot, Olivier;
- Huidekoper, Hidde H.;
- van Spronsen, Francjan J.;
- van Hasselt, Peter M.;
- Kluijtmans, Leo A. J.;
- Wevers, Ron A.;
- Verrips, Aad
Publication type:
Article
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 2, p. 359, doi. 10.1007/s10545-014-9797-1
By:
- Geel, Björn;
- Poll-The, Bwee Tien;
- Verrips, Aad;
- Boelens, Jaap-Jan;
- Kemp, Stephan;
- Engelen, Marc
Publication type:
Article
A novel seven-octapeptide repeat insertion in the prion protein gene ( PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.
Published in:
Acta Neuropathologica, 2011, v. 121, n. 1, p. 59, doi. 10.1007/s00401-010-0656-3
By:
- Jansen, Casper;
- Voet, Willem;
- Head, Mark W.;
- Parchi, Piero;
- Yull, Helen;
- Verrips, Aad;
- Wesseling, Pieter;
- Meulstee, Jan;
- Baas, Frank;
- van Gool, Willem A.;
- Ironside, James W.;
- Rozemuller, Annemieke J. M.
Publication type:
Article
Clinical Phenotype of 5 Females With a CDKL5 Mutation.
Published in:
2012
By:
- Stalpers, Xenia L.;
- Spruijt, Liesbeth;
- Yntema, Helger G.;
- Verrips, Aad
Publication type:
Case Study
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
Published in:
Human Mutation, 2006, v. 27, n. 5, p. 453, doi. 10.1002/humu.20313
By:
- van Reeuwijk, Jeroen;
- Maugenre, Svetlana;
- van den Elzen, Christa;
- Verrips, Aad;
- Bertini, Enrico;
- Muntoni, Francesco;
- Merlini, Luciano;
- Scheffer, Hans;
- Brunner, Han G.;
- Guicheney, Pascale;
- van Bokhoven, Hans
Publication type:
Article
Hypoglycorrhachia: A simple clue, simply missed.
Published in:
Annals of Neurology, 2001, v. 49, n. 5, p. 685, doi. 10.1002/ana.1044
By:
- Willemsen, Michèl A.A.P.;
- Verrips, Aad;
- Verbeek, Marcel M.;
- Voit, Thomas;
- Klepper, Jörg
Publication type:
Article
Simvastatin and plasma very-long-chain fatty acids in X-linked adrenoleukodystrophy.
Published in:
Annals of Neurology, 2000, v. 47, n. 4, p. 552, doi. 10.1002/1531-8249(200004)47:4<552::AID-ANA28>3.0.CO;2-0
By:
- Verrips, Aad;
- Willemsen, Michèl A. A. P.;
- Rubio-Gozalbo, Estela;
- De Jong, Jan;
- Smeitink, Jan A. M.
Publication type:
Article
Involuntary painful muscle contractions in Satoyoshi syndrome: A surface electromyographic study.
Published in:
Movement Disorders, 2006, v. 21, n. 11, p. 2015, doi. 10.1002/mds.21088
By:
- Drost, Gea;
- Verrips, Aad;
- van Engelen, Baziel G.M.;
- Stegeman, Dick F.;
- Zwarts, Machiel J.
Publication type:
Article
Pulsatile Proptosis due to Intraorbital Meningocele.
Published in:
2017
By:
- van Rumund, Anouke;
- Verrips, Aad;
- Verhagen, Wim I. M.
Publication type:
Case Study
Characterization of Postprandial Bile Acid Profiles and Glucose Metabolism in Cerebrotendinous Xanthomatosis.
Published in:
Nutrients, 2023, v. 15, n. 21, p. 4625, doi. 10.3390/nu15214625
By:
- Majait, Soumia;
- Meessen, Emma C. E.;
- Vaz, Frederic Maxime;
- Kemper, E. Marleen;
- Nierop, Samuel van;
- Olde Damink, Steven W.;
- Schaap, Frank G.;
- Romijn, Johannes A.;
- Nieuwdorp, Max;
- Verrips, Aad;
- Knop, Filip Krag;
- Soeters, Maarten R.
Publication type:
Article

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