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Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-04817-8
By:
- van den Heuvel, Anita;
- Lassche, Saskia;
- Mul, Karlien;
- Greco, Anna;
- San León Granado, David;
- Heerschap, Arend;
- Küsters, Benno;
- Tapscott, Stephen J.;
- Voermans, Nicol C.;
- van Engelen, Baziel G. M.;
- van der Maarel, Silvère M.
Publication type:
Article
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 2, p. 414, doi. 10.1093/brain/awad312
By:
- Lemmers, Richard J L F;
- Butterfield, Russell;
- Vliet, Patrick J van der;
- Bleecker, Jan L de;
- van der Pol, Ludo;
- Dunn, Diane M;
- Erasmus, Corrie E;
- D'Hooghe, Marc;
- Verhoeven, Kristof;
- Balog, Judit;
- Bigot, Anne;
- Engelen, Baziel van;
- Statland, Jeffrey;
- Bugiardini, Enrico;
- van der Stoep, Nienke;
- Evangelista, Teresinha;
- Marini-Bettolo, Chiara;
- van den Bergh, Peter;
- Tawil, Rabi;
- Voermans, Nicol C
Publication type:
Article
Withdrawal of intravenous immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy.
Published in:
2022
By:
- Adrichem, Max E.;
- Lucke, Ilse M.;
- Vrancken, Alexander F. J. E.;
- Goedee, H. Stephan;
- Wieske, Luuk;
- Dijkgraaf, Marcel G. W.;
- Voermans, Nicol C.;
- Notermans, Nicolette C.;
- Faber, Catharina G.;
- Visser, Leo H.;
- Kuitwaard, Krista;
- Doorn, Pieter A. van;
- Merkies, Ingemar S. J.;
- Haan, Rob J. de;
- Schaik, Ivo N. van;
- Eftimov, Filip;
- van Doorn, Pieter A;
- de Haan, Rob J;
- van Schaik, Ivo N
Publication type:
journal article
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 8247, doi. 10.3390/ijms24098247
By:
- Conte, Federica;
- Ashikov, Angel;
- Mijdam, Rachel;
- van de Ven, Eline G. P.;
- van Scherpenzeel, Monique;
- Veizaj, Raisa;
- Mahalleh-Yousefi, Seyed P.;
- Post, Merel A.;
- Huijben, Karin;
- Panneman, Daan M.;
- Rodenburg, Richard J. T.;
- Voermans, Nicol C.;
- Garanto, Alejandro;
- Koopman, Werner J. H.;
- Wessels, Hans J. C. T.;
- Noga, Marek J.;
- Lefeber, Dirk J.
Publication type:
Article
Reproducibility and robustness of motor cortical stimulation to assess muscle relaxation kinetics.
Published in:
Physiological Reports, 2022, v. 10, n. 20, p. 1, doi. 10.14814/phy2.15491
By:
- Molenaar, Joery P.;
- van Zandvoort, Elianne;
- van Engelen, Baziel G.;
- Voermans, Nicol C.;
- Doorduin, Jonne
Publication type:
Article
Neurological and spinal manifestations of the Ehlers-Danlos syndromes.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 1, p. 195, doi. 10.1002/ajmg.c.31549
By:
- Henderson, Fraser C.;
- Austin, Claudiu;
- Benzel, Edward;
- Bolognese, Paolo;
- Ellenbogen, Richard;
- Francomano, Clair A.;
- Ireton, Candace;
- Klinge, Petra;
- Koby, Myles;
- Long, Donlin;
- Patel, Sunil;
- Singman, Eric L.;
- Voermans, Nicol C.
Publication type:
Article
Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63810
By:
- Draaisma, Fieke;
- Leenders, Erika K. S. M.;
- Erasmus, Corrie E.;
- Braakman, Hilde M. H.;
- Burgers, Melanie C. J.;
- Coppens, Catelijne H.;
- Rinne, Tuula;
- Zenker, Martin;
- Tartaglia, Marco;
- Reintjes, Wesley;
- Voermans, Nicol C.;
- van Engelen, Baziel G. M.;
- van Alfen, Nens;
- Draaisma, Jos M. T.
Publication type:
Article
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2272, doi. 10.1002/ajmg.a.61765
By:
- Donkervoort, Sandra;
- Mohassel, Payam;
- Laugwitz, Lucia;
- Zaki, Maha S.;
- Kamsteeg, Erik‐Jan;
- Maroofian, Reza;
- Chao, Katherine R.;
- Verschuuren‐Bemelmans, Corien C.;
- Horber, Veronka;
- Fock, Annemarie J. M.;
- McCarty, Riley M.;
- Jain, Minal S.;
- Biancavilla, Victoria;
- McMacken, Grace;
- Nalls, Matthew;
- Voermans, Nicol C.;
- Elbendary, Hasnaa M.;
- Snyder, Molly;
- Cai, Chunyu;
- Lehky, Tanya J.
Publication type:
Article
The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound.
Published in:
Muscle & Nerve, 2024, v. 70, n. 5, p. 1062, doi. 10.1002/mus.28254
By:
- Vincenten, Sanne C. C.;
- van Doorn, Jeroen L. M.;
- Teeselink, Sjan;
- Rasing, Nathaniel B.;
- Padberg, George W.;
- Voermans, Nicol C.;
- van Engelen, Baziel G. M.;
- van Alfen, Nens;
- Mul, Karlien
Publication type:
Article
Diagnostic workup of rhabdomyolysis: Genetic testing should precede neurophysiological testing.
Published in:
Muscle & Nerve, 2024, v. 70, n. 4, p. 727, doi. 10.1002/mus.28205
By:
- Voermans, Nicol C.;
- Bhai, Salman;
- Laforet, Pascal;
- Vissing, John
Publication type:
Article
Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity.
Published in:
Brain & Behavior, 2018, v. 8, n. 4, p. 1, doi. 10.1002/brb3.919
By:
- Hobbelink, Sanne M. R.;
- Brockley, Cain R.;
- Kennedy, Rachel A.;
- Carroll, Kate;
- de Valle, Katy;
- Rao, Padma;
- Davis, Mark R.;
- Laing, Nigel G.;
- Voermans, Nicol C.;
- Ryan, Monique M.;
- Yiu, Eppie M.
Publication type:
Article
Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy.
Published in:
2021
By:
- Lassche, Saskia;
- Voermans, Nicol C;
- Schreuder, Tim;
- Heerschap, Arend;
- Küsters, Benno;
- Ottenheijm, Coen AC;
- Hopman, Maria TE;
- Engelen, Baziel GM;
- van Engelen, Baziel Gm
Publication type:
journal 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
Neuromuscular properties of the thigh muscles in patients with ehlers-danlos syndrome.
Published in:
Muscle & Nerve, 2013, v. 47, n. 1, p. 96, doi. 10.1002/mus.23482
By:
- Gerrits, Karin H.L.;
- Voermans, Nicol C.;
- de Haan, Arnold;
- van EngelEN, Baziel G.
Publication type:
Article
Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).
Published in:
2016
By:
- Goselink, Rianne J. M.;
- Schreuder, Tim H. A.;
- Mul, Karlien;
- Voermans, Nicol C.;
- Pelsma, Maaike;
- de Groot, Imelda J. M.;
- van Alfen, Nens;
- Franck, Bas;
- Theelen, Thomas;
- Lemmers, Richard J.;
- Mah, Jean K.;
- van der Maarel, Silvère M.;
- van Engelen, Baziel G.;
- Erasmus, Corrie E.
Publication type:
journal article
Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.
Published in:
BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-144
By:
- Lassche, Saskia;
- Ottenheijm, Coen A. C.;
- Voermans, Nicol C.;
- Westeneng, Henk-Jan;
- Janssen, Barbara H.;
- van der Maarel, Silvère M.;
- Hopman, Maria T.;
- Padberg, George W.;
- Stienen, Ger J. M.;
- van Engelen, Baziel G. M.
Publication type:
Article
Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.
Published in:
2013
By:
- Lassche, Saskia;
- Ottenheijm, Coen Ac;
- Voermans, Nicol C;
- Westeneng, Henk-Jan;
- Janssen, Barbara H;
- van der Maarel, Silvère M;
- Hopman, Maria T;
- Padberg, George W;
- Stienen, Ger Jm;
- van Engelen, Baziel Gm;
- Ottenheijm, Coen A C;
- Stienen, Ger J M;
- van Engelen, Baziel G M
Publication type:
journal article
Computer-aided visualization of muscle weakness distribution.
Published in:
Journal of Neurology, 2008, v. 255, n. 11, p. 1670, doi. 10.1007/s00415-008-0959-7
By:
- Pieterse, Allan J.;
- Voermans, Nicol C.;
- Tuinenga, Hans S.;
- Van Engelen, Baziel G. M.
Publication type:
Article
Comment on "Overlapping Mechanisms of Exertional Heat Stroke and Malignant Hyperthermia: Evidence vs. Conjecture".
Published in:
Sports Medicine, 2022, v. 52, n. 3, p. 669, doi. 10.1007/s40279-021-01569-9
By:
- van den Bersselaar, Luuk R.;
- Kruijt, Nick;
- Bongers, Coen C. W. G.;
- Jungbluth, Heinz;
- Treves, Susan;
- Riazi, Sheila;
- Snoeck, Marc M. J.;
- Voermans, Nicol C.
Publication type:
Article
A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.
Published in:
BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03852-4
By:
- de Laat, E. C. M.;
- Houwen- van Opstal, S.L.S.;
- Bouman, K.;
- van Doorn, J. L. M.;
- Cameron, D.;
- van Alfen, N.;
- Dittrich, A. T. M.;
- Kamsteeg, E. J.;
- Smeets, H. J. M.;
- Groothuis, J. T.;
- Erasmus, C. E.;
- Voermans, N. C.;
- Voermans, Nicol C.
Publication type:
Article
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
Published in:
Acta Neuropathologica Communications, 2022, p. 1, doi. 10.1186/s40478-022-01491-9
By:
- Ranu, Natasha;
- Laitila, Jenni;
- Dugdale, Hannah F.;
- Mariano, Jennifer;
- Kolb, Justin S.;
- Wallgren-Pettersson, Carina;
- Witting, Nanna;
- Vissing, John;
- Vilchez, Juan Jesus;
- Fiorillo, Chiara;
- Zanoteli, Edmar;
- Auranen, Mari;
- Jokela, Manu;
- Tasca, Giorgio;
- Claeys, Kristl G.;
- Voermans, Nicol C.;
- Palmio, Johanna;
- Huovinen, Sanna;
- Moggio, Maurizio;
- Beck, Thomas Nyegaard
Publication type:
Article
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-LRibitol Pyrophosphorylase A Muscular Dystrophy.
Published in:
Clinical Chemistry, 2019, v. 65, n. 10, p. 1295, doi. 10.1373/clinchem.2019.305391
By:
- van Tol, Walinka;
- van Scherpenzeel, Monique;
- Alsady, Mohammad;
- Riemersma, Moniek;
- Hermans, Esther;
- Kragt, Else;
- Tasca, Giorgio;
- Kamsteeg, Erik-Jan;
- Pennings, Maartje;
- van Beusekom, Ellen;
- Vermeulen, Jeroen R.;
- van Bokhoven, Hans;
- Voermans, Nicol C.;
- Willemsen, Michèl A.;
- Ashikov, Angel;
- Lefeber, Dirk J.
Publication type:
Article
Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1067, doi. 10.3233/JND-240029
By:
- van de Camp, Sanne A.J.H.;
- Stinissen, Lizan;
- Huseth, Andrew;
- Simon, Brentney;
- Ryan, Jennifer;
- Sarkozy, Anna;
- Van Petegem, Filip;
- Goldberg, Michael F.;
- Jungbluth, Heinz;
- Böhm, Johann;
- Oortwijn, Wija;
- Dirksen, Robert T.;
- Voermans, Nicol C.
Publication type:
Article
Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 919, doi. 10.3233/JND-230190
By:
- Bouman, Karlijn;
- van den Heuvel, Frederik M.A.;
- Evertz, Reinder;
- Boesaard, Ewout;
- Groothuis, Jan T.;
- van Engelen, Baziel G.M.;
- Nijveldt, Robin;
- Erasmus, Corrie E.;
- Udink ten Cate, Floris E.A.;
- Voermans, Nicol C.
Publication type:
Article
Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 535, doi. 10.3233/JND-230213
By:
- Rasing, Nathaniël B.;
- van de Geest-Buit, Willianne A.;
- Chan, On Ying A.;
- Mul, Karlien;
- Lanser, Anke;
- van Engelen, Baziel G.M.;
- Erasmus, Corrie E.;
- Fischer, Agneta H.;
- Ingels, Koen J.A.O.;
- Post, Bart;
- Siemann, Ietske;
- Groothuis, Jan T.;
- Voermans, Nicol C.
Publication type:
Article
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 103, doi. 10.3233/JND-230027
By:
- Karazi, Walaa;
- Coppers, Jacqueline;
- Maas, Daphne;
- Cup, Edith;
- Bloemen, Bart;
- Voet, Nicole;
- Groothuis, Jan T.;
- Pinós, Tomàs;
- Marti Seves, Ramon;
- Quinlivan, Ros;
- Løkken, Nicoline;
- Vissing, John;
- Bhai, Salman;
- Wakelin, Andrew;
- Reason, Stacey;
- Voermans, Nicol C.
Publication type:
Article
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 6, p. 1055, doi. 10.3233/JND-221673
By:
- Bouman, Karlijn;
- Groothuis, Jan T.;
- Doorduin, Jonne;
- van Alfen, Nens;
- Udink ten Cate, Floris E.A.;
- van den Heuvel, Frederik M.A.;
- Nijveldt, Robin;
- Kamsteeg, Erik-Jan;
- Dittrich, Anne T.M.;
- Draaisma, Jos M.T.;
- Janssen, Mirian C.H.;
- van Engelen, Baziel G.M.;
- Erasmus, Corrie E.;
- Voermans, Nicol C.
Publication type:
Article
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 777, doi. 10.3233/JND-230014
By:
- Middelink, Marloes;
- Voermans, Nicol C.;
- van Engelen, Baziel G.M.;
- Janssen, Mirian C.H.;
- Groothuis, Jan T.;
- Knuijt, Simone;
- Zweers-van Essen, Heidi
Publication type:
Article
Inspiratory Muscle Training in Nemaline Myopathy.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 825, doi. 10.3233/JND-221665
By:
- van Kleef, Esmee S.B.;
- Langer, Daniel;
- van Engelen, Baziel G.M.;
- Ottenheijm, Coen A.C.;
- Voermans, Nicol C.;
- Doorduin, Jonne
Publication type:
Article
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 541, doi. 10.3233/JND-230018
By:
- van den Bersselaar, Luuk R.;
- van Alfen, Nens;
- Kruijt, Nick;
- Kamsteeg, Erik-Jan;
- Fernandez-Garcia, Miguel A.;
- Treves, Susan;
- Riazi, Sheila;
- Yang, Chu-Ya;
- Malagon, Ignacio;
- van Eijk, Lucas T.;
- van Engelen, Baziel G.M.;
- Scheffer, Gert-Jan;
- Jungbluth, Heinz;
- Snoeck, Marc M.J.;
- Voermans, Nicol C.
Publication type:
Article
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 135, doi. 10.3233/JND-221609
By:
- O'Connor, Thomas N.;
- van den Bersselaar, Luuk R.;
- Chen, Yu Seby;
- Nicolau, Stefan;
- Simon, Brentney;
- Huseth, Andrew;
- Todd, Joshua J.;
- Van Petegem, Filip;
- Sarkozy, Anna;
- Goldberg, Michael F.;
- Voermans, Nicol C.;
- Dirksen, Robert T.
Publication type:
Article
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 1, doi. 10.3233/JND-221543
By:
- Bouman, Karlijn;
- Dittrich, Anne T.M.;
- Groothuis, Jan T.;
- van Engelen, Baziel G.M.;
- Janssen, Mirian C.H.;
- Voermans, Nicol C.;
- Draaisma, Jos M.T.;
- Erasmus, Corrie E.
Publication type:
Article
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 525, doi. 10.3233/JND-220798
By:
- Boon, Helena T.M.;
- Jacobs, Bram;
- Wouter, van Rheenen;
- Kamsteeg, Erik-Jan;
- Kuks, Jan B.M.;
- Vincent, Angela;
- Eymard, Bruno;
- Voermans, Nicol C.
Publication type:
Article
Rituximab treatment in patients with refractory inflammatory myopathies.
Published in:
2011
By:
- Mahler, Elien A. M.;
- Blom, Marlies;
- Voermans, Nicol C.;
- van Engelen, Baziel G. M.;
- van Riel, Piet L. C. M.;
- Vonk, Madelon C.
Publication type:
Journal Article
Rituximab treatment in patients with refractory inflammatory myopathies.
Published in:
Rheumatology, 2011, v. 50, n. 12, p. 2206, doi. 10.1093/rheumatology/ker088
By:
- Mahler, Elien A. M.;
- Blom, Marlies;
- Voermans, Nicol C.;
- van Engelen, Baziel G. M.;
- van Riel, Piet L. C. M.;
- Vonk, Madelon C.
Publication type:
Article
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 13, doi. 10.1111/cge.14533
By:
- Giardina, Emiliano;
- Camaño, Pilar;
- Burton‐Jones, Sarah;
- Ravenscroft, Gina;
- Henning, Franclo;
- Magdinier, Frederique;
- van der Stoep, Nienke;
- van der Vliet, Patrick J.;
- Bernard, Rafaëlle;
- Tomaselli, Pedro J.;
- Davis, Mark R.;
- Nishino, Ichizo;
- Oflazer, Piraye;
- Race, Valerie;
- Vishnu, Venugopalan Y.;
- Williams, Victoria;
- Sobreira, Cláudia F. R.;
- van der Maarel, Silvere M.;
- Moore, Steve A.;
- Voermans, Nicol C.
Publication type:
Article
Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Published in:
Clinical Genetics, 2022, v. 101, n. 2, p. 149, doi. 10.1111/cge.14031
By:
- Vincenten, Sanne C. C.;
- Van Der Stoep, Nienke;
- Paulussen, Aimée D. C.;
- Mul, Karlien;
- Badrising, Umesh A.;
- Kriek, Marjolein;
- Van Der Heijden, Olivier W. H.;
- Van Engelen, Baziel G. M.;
- Voermans, Nicol C.;
- De Die‐Smulders, Christine E. M.;
- Lassche, Saskia
Publication type:
Article
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 692, doi. 10.1111/cge.14054
By:
- Reumers, Stacha F. I.;
- Erasmus, Corrie E.;
- Bouman, Karlijn;
- Pennings, Maartje;
- Schouten, Meyke;
- Kusters, Benno;
- Duijkers, Floor A. M.;
- van der Kooi, Anneke;
- Jaeger, Bregje;
- Verschuuren‐Bemelmans, Corien C.;
- Faber, Catharina G.;
- van Engelen, Baziel G.;
- Kamsteeg, Erik‐Jan;
- Jungbluth, Heinz;
- Voermans, Nicol C.
Publication type:
Article
Phenotype‐genotype relations in facioscapulohumeral muscular dystrophy type 1.
Published in:
Clinical Genetics, 2018, v. 94, n. 6, p. 521, doi. 10.1111/cge.13446
By:
- Mul, Karlien;
- Voermans, Nicol C.;
- Lemmers, Richard J.L.F.;
- Jonker, Marianne A.;
- van der Vliet, Patrick J.;
- Padberg, George W.;
- van Engelen, Baziel G.M.;
- van der Maarel, Silvère M.;
- Horlings, Corinne G.C.
Publication type:
Article
Living with facioscapulohumeral muscular dystrophy during the first two COVID-19 outbreaks: a repeated patient survey in the Netherlands.
Published in:
Acta Neurologica Belgica, 2024, v. 124, n. 2, p. 559, doi. 10.1007/s13760-023-02443-3
By:
- Deenen, Johanna C. W.;
- Kools, Joost;
- Greco, Anna;
- Thewissen, Renée;
- van de Put, Wiecke;
- Lanser, Anke;
- Joosten, Leo A. B.;
- Verbeek, Andre L. M.;
- van Engelen, Baziel G. M.;
- Voermans, Nicol C.
Publication type:
Article
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).
Published in:
2020
By:
- Scalco, Renata S.;
- Lucia, Alejandro;
- Santalla, Alfredo;
- Martinuzzi, Andrea;
- Vavla, Marinela;
- Reni, Gianluigi;
- Toscano, Antonio;
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Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.
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2018
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- Erasmus, Corrie E.
Publication type:
journal article
Mutation-specific effects on thin filament length in thin filament myopathy.
Published in:
2016
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- Joureau, Barbara;
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Neuromuscular involvement in various types of Ehlers-Danlos syndrome.
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Annals of Neurology, 2009, v. 65, n. 6, p. 687, doi. 10.1002/ana.21643
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Long‐term outcomes for females with early‐onset dystrophinopathy.
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Developmental Medicine & Child Neurology, 2023, v. 65, n. 8, p. 1093, doi. 10.1111/dmcn.15496
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Article
Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy.
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Journal of Neurology, 2022, v. 269, n. 7, p. 3682, doi. 10.1007/s00415-022-10990-7
By:
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- Groothuis, Jan T.;
- Doorduin, Jonne;
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- van Engelen, Baziel G. M.;
- Mul, Karlien
Publication type:
Article
The socioeconomic burden of facioscapulohumeral muscular dystrophy.
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Journal of Neurology, 2021, v. 268, n. 12, p. 4778, doi. 10.1007/s00415-021-10591-w
By:
- Blokhuis, Anna M.;
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- van Engelen, Baziel G. M.;
- Kievit, Wietske;
- Groothuis, Jan T.
Publication type:
Article
Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers.
Published in:
Journal of Neurology, 2018, v. 265, n. 11, p. 2646, doi. 10.1007/s00415-018-9037-y
By:
- Mul, Karlien;
- Horlings, Corinne G. C.;
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- Voermans, Nicol C.;
- van Engelen, Baziel G. M.;
- van Alfen, Nens
Publication type:
Article
Repeated oral sucrose dosing after the second wind is unnecessary in patients with McArdle disease: Results from a randomized, placebo‐controlled, double‐blind, cross‐over study.
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Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1139, doi. 10.1002/jimd.12656
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Publication type:
Article

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