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MRI changes in diaphragmatic motion and curvature in Pompe disease over time.
Published in:
European Radiology, 2022, v. 32, n. 12, p. 8681, doi. 10.1007/s00330-022-08940-y
By:
- Harlaar, Laurike;
- Ciet, Pierluigi;
- van Tulder, Gijs;
- van Kooten, Harmke A.;
- van der Beek, Nadine A. M. E.;
- Brusse, Esther;
- de Bruijne, Marleen;
- Tiddens, Harm A. W. M.;
- van der Ploeg, Ans T.;
- van Doorn, Pieter A.
Publication type:
Article
Phenotypical variation within 22 families with Pompe disease.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-182
By:
- Wens, Stephan C. A.;
- van Gelder, Carin M.;
- Kruijshaar, Michelle E.;
- de Vries, Juna M.;
- van der Beek, Nadine A. M. E.;
- Reuser, Arnold J. J.;
- van Doorn, Pieter A.;
- van der Ploeg, Ans T.;
- Brusse, Esther
Publication type:
Article
Phenotypical variation within 22 families with Pompe disease.
Published in:
2013
By:
- Wens, Stephan C A;
- van Gelder, Carin M;
- Kruijshaar, Michelle E;
- de Vries, Juna M;
- van der Beek, Nadine A M E;
- Reuser, Arnold J J;
- van Doorn, Pieter A;
- van der Ploeg, Ans T;
- Brusse, Esther
Publication type:
journal article
Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.
Published in:
Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0243-x
By:
- Schaaf, Gerben J.;
- van Gestel, Tom JM;
- Brusse, Esther;
- Verdijk, Robert M.;
- de Coo, Irenaeus FM;
- van Doorn, Pieter A.;
- van der Ploeg, Ans T.;
- Pijnappel, WWM Pim
Publication type:
Article
Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.
Published in:
2016
By:
- Straathof, Chiara S.M.;
- Van Heusden, Dave;
- Ippel, Pieternella F.;
- Post, Jan G.;
- Voermans, Nicol C.;
- De Visser, Marianne;
- Brusse, Esther;
- Van Den Bergen, Janneke C.;
- Van Der Kooi, Anneke J.;
- Verschuuren, Jan J.G.M.;
- Ginjaar, Hendrika B.
Publication type:
journal article
Exertional hyperckemia might be the first manifestation of a genetic disorder.
Published in:
Muscle & Nerve, 2013, v. 48, n. 3, p. 461, doi. 10.1002/mus.23826
By:
- Voermans, Nicol C.;
- Jungbluth, Heinz;
- Brusse, Esther;
- Engelen, Baziel G.;
- Lafôret, Pascal
Publication type:
Article
Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02924-x
By:
- Ismailova, Gamida;
- Wagenmakers, Margreet A. E. M.;
- Brusse, Esther;
- van der Ploeg, Ans T.;
- Favejee, Marein M.;
- van der Beek, Nadine A. M. E.;
- van den Berg, Linda E. M.
Publication type:
Article
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02715-4
By:
- Ditters, Imke A. M.;
- van der Beek, Nadine A. M. E.;
- Brusse, Esther;
- van der Ploeg, Ans T.;
- van den Hout, Johanna M. P.;
- Huidekoper, Hidde H.
Publication type:
Article
Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 89, doi. 10.1002/jmd2.12088
By:
- Molema, Femke;
- Williams, Monique;
- Langendonk, Janneke;
- Darwish‐Murad, Sarwa;
- Wetering, Jacqueline;
- Jacobs, Ed;
- Onkenhout, Willem;
- Brusse, Esther;
- Eerden, Anke;
- Wagenmakers, Margreet
Publication type:
Article
Intravenous immunoglobulins as first-line treatment in idiopathic inflammatory myopathies: a pilot study.
Published in:
Rheumatology, 2021, v. 60, n. 4, p. 1784, doi. 10.1093/rheumatology/keaa459
By:
- Lim, Johan;
- Eftimov, Filip;
- Verhamme, Camiel;
- Brusse, Esther;
- Hoogendijk, Jessica E;
- Saris, Christiaan G J;
- Raaphorst, Joost;
- Haan, Rob J De;
- Schaik, Ivo N van;
- Aronica, Eleonora;
- Visser, Marianne de;
- Kooi, Anneke J van der
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
Chest MRI to diagnose early diaphragmatic weakness in Pompe disease.
Published in:
2021
By:
- Harlaar, Laurike;
- Ciet, Pierluigi;
- van Tulder, Gijs;
- Pittaro, Alice;
- van Kooten, Harmke A.;
- van der Beek, Nadine A. M. E.;
- Brusse, Esther;
- Wielopolski, Piotr A.;
- de Bruijne, Marleen;
- van der Ploeg, Ans T.;
- Tiddens, Harm A. W. M.;
- van Doorn, Pieter A.
Publication type:
journal article
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 101, doi. 10.1002/jimd.12560
By:
- Canibano‐Fraile, Rodrigo;
- Harlaar, Laurike;
- dos Santos, Carlos A.;
- Hoogeveen‐Westerveld, Marianne;
- Demmers, Jeroen A. A.;
- Snijders, Tim;
- Lijnzaad, Philip;
- Verdijk, Robert M.;
- van der Beek, Nadine A. M. E.;
- van Doorn, Pieter A.;
- van der Ploeg, Ans T.;
- Brusse, Esther;
- Pijnappel, W. W. M. Pim;
- Schaaf, Gerben J.
Publication type:
Article
Is the brain involved in patients with late‐onset Pompe disease?
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 493, doi. 10.1002/jimd.12469
By:
- van den Dorpel, Jan J. A.;
- van der Vlugt, Willemijn M. C.;
- Dremmen, Marjolein H. G.;
- Muetzel, Ryan;
- van den Berg, Esther;
- Hest, Roos;
- de Kriek, Joni;
- Brusse, Esther;
- van Doorn, Pieter A.;
- van der Ploeg, Ans T.;
- van den Hout, Johanna M. P.;
- van der Beek, Nadine A. M. E.
Publication type:
Article
Increased aortic stiffness and blood pressure in non-classic Pompe disease.
Published in:
Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 391, doi. 10.1007/s10545-013-9667-2
By:
- Wens, Stephan;
- Kuperus, Esther;
- Mattace-Raso, Francesco;
- Kruijshaar, Michelle;
- Brusse, Esther;
- Montfort, Kees;
- Boer, Marjan;
- Sijbrands, Eric;
- Ploeg, Ans;
- Doorn, Pieter
Publication type:
Article
Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024.
Published in:
European Journal of Neurology, 2024, v. 31, n. 9, p. 1, doi. 10.1111/ene.16383
By:
- Schoser, Benedikt;
- van der Beek, Nadine A. M. E.;
- Broomfield, Alexander;
- Brusse, Esther;
- Diaz‐Manera, Jordi;
- Hahn, Andreas;
- Hundsberger, Thomas;
- Kornblum, Cornelia;
- Kruijshaar, Michelle;
- Laforet, Pascal;
- Mengel, Eugen;
- Mongini, Tiziana;
- Orlikowski, David;
- Parenti, Giancarlo;
- Pijnappel, W. W. M. Pim;
- Roberts, Mark;
- Scherer, Thomas;
- Toscano, Antonio;
- Vissing, John;
- van den Hout, Johanna M. P.
Publication type:
Article
Misdiagnosis and diagnostic pitfalls of chronic inflammatory demyelinating polyradiculoneuropathy.
Published in:
European Journal of Neurology, 2021, v. 28, n. 6, p. 2065, doi. 10.1111/ene.14796
By:
- Broers, Merel C.;
- Bunschoten, Carina;
- Drenthen, Judith;
- Beck, Tiago A. O.;
- Brusse, Esther;
- Lingsma, Hester F.;
- Allen, Jeffrey A.;
- Lewis, Richard A.;
- Doorn, Pieter A.;
- Jacobs, Bart C.
Publication type:
Article
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related.
Published in:
Human Mutation, 2022, v. 43, n. 10, p. 1347, doi. 10.1002/humu.24421
By:
- Mroczek, Magdalena;
- Inashkina, Inna;
- Stavusis, Janis;
- Zayakin, Pawel;
- Khrunin, Andrey;
- Micule, Ieva;
- Kenina, Victorija;
- Zdanovica, Anna;
- Zídková, Jana;
- Fajkusová, Lenka;
- Limborska, Svetlana;
- van der Kooi, Anneke J.;
- Brusse, Esther;
- Leonardis, Lea;
- Maver, Ales;
- Pajusalu, Sander;
- Õunap, Katrin;
- Puusepp, Sanna;
- Dobosz, Paula;
- Sypniewski, Mateusz
Publication type:
Article
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Published in:
Human Mutation, 2020, v. 41, n. 6, p. 1091, doi. 10.1002/humu.24004
By:
- Verdonschot, Job A. J.;
- Vanhoutte, Els K.;
- Claes, Godelieve R. F.;
- Helderman‐van den Enden, Apollonia T. J. M.;
- Hoeijmakers, Janneke G. J.;
- Hellebrekers, Debby M. E. I.;
- Haan, Amber;
- Christiaans, Imke;
- Lekanne Deprez, Ronald H.;
- Boen, Hanne M.;
- Craenenbroeck, Emeline M.;
- Loeys, Bart L.;
- Hoedemaekers, Yvonne M.;
- Marcelis, Carlo;
- Kempers, Marlies;
- Brusse, Esther;
- Waning, Jaap I.;
- Baas, Annette F.;
- Dooijes, Dennis;
- Asselbergs, Folkert W.
Publication type:
Article
Autosomal Recessive Spinocerebellar Ataxia 7 ( SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease ( CLN2 Disease).
Published in:
Human Mutation, 2013, v. 34, n. 5, p. 706, doi. 10.1002/humu.22292
By:
- Sun, Yu;
- Almomani, Rowida;
- Breedveld, Guido J.;
- Santen, Gijs W.E.;
- Aten, Emmelien;
- Lefeber, Dirk J.;
- Hoff, Jorrit I.;
- Brusse, Esther;
- Verheijen, Frans W.;
- Verdijk, Rob M.;
- Kriek, Marjolein;
- Oostra, Ben;
- Breuning, Martijn H.;
- Losekoot, Monique;
- Dunnen, Johan T.;
- Warrenburg, Bart P.;
- Maat‐Kievit, Anneke J.A.
Publication type:
Article
Enzyme replacement therapy and fatigue in adults with Pompe disease.
Published in:
2013
By:
- Güngör, Deniz;
- de Vries, Juna;
- Brusse, Esther;
- Kruijshaar, Michelle;
- van den Berg, Linda;
- Hop, Wim;
- Reuser, Arnold;
- van Doorn, Pieter;
- Hagemans, Marloes;
- Plug, Iris;
- van der Ploeg, Ans
Publication type:
Abstract
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
Published in:
Neurogenetics, 2009, v. 10, n. 4, p. 289, doi. 10.1007/s10048-009-0193-1
By:
- Brusse, Esther;
- Majoor-Krakauer, Danielle;
- de Graaf, Bianca M.;
- Visser, Gerhard H.;
- Swagemakers, Sigrid;
- Boon, Agnita J. W.;
- Oostra, Ben A.;
- Bertoli-Avella, Aida M.
Publication type:
Article
Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.
Published in:
Movement Disorders, 2006, v. 21, n. 3, p. 396, doi. 10.1002/mds.20708
By:
- Brusse, Esther;
- de Koning, Inge;
- Maat-Kievit, Anneke;
- Oostra, Ben A.;
- Heutink, Peter;
- van Swieten, John C.
Publication type:
Article
Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction.
Published in:
2002
By:
- Nijssen, Peter C.G.;
- Brusse, Esther;
- Leyten, Antonius C.M.;
- Martin, J.J.;
- Teepen, Johannes L.J.M.;
- Roos, Raymund A.C.
Publication type:
journal article
Protocol of a dose response trial of IV immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy (DRIP study).
Published in:
Journal of the Peripheral Nervous System, 2018, v. 23, n. 1, p. 5, doi. 10.1111/jns.12244
By:
- Kuitwaard, Krista;
- Fokkink, Willem‐Jan R.;
- Brusse, Esther;
- Vrancken, Alexander F. J. E.;
- Eftimov, Filip;
- Notermans, Nicolette C.;
- van der Kooi, Anneke J.;
- Merkies, Ingemar S. J.;
- Jacobs, Bart C.;
- van Doorn, Pieter A.
Publication type:
Article
Maintenance IV immunoglobulin treatment in chronic inflammatory demyelinating polyradiculoneuropathy.
Published in:
Journal of the Peripheral Nervous System, 2017, v. 22, n. 4, p. 425, doi. 10.1111/jns.12242
By:
- Kuitwaard, Krista;
- Fokkink, Willem‐Jan R.;
- Brusse, Esther;
- Vrancken, Alexander F. J. E.;
- Eftimov, Filip;
- Notermans, Nicolette C.;
- van der Kooi, Anneke J.;
- Merkies, Ingemar S. J.;
- Jacobs, Bart C.;
- van Doorn, Pieter A.
Publication type:
Article
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.
Published in:
BioDrugs, 2023, v. 37, n. 5, p. 685, doi. 10.1007/s40259-023-00609-2
By:
- Ditters, Imke A. M.;
- van Kooten, Harmke A.;
- van der Beek, Nadine A. M. E.;
- Hardon, Jacqueline F.;
- Ismailova, Gamida;
- Brusse, Esther;
- Kruijshaar, Michelle E.;
- van der Ploeg, Ans T.;
- van den Hout, Johanna M. P.;
- Huidekoper, Hidde H.
Publication type:
Article

Found: 27