Works matching AU Engelen, Baziel G.

Results: 109

Electrocardiographic predictors of infrahissian conduction disturbances in myotonic dystrophy type 1.

Published in:

2021

By:

Joosten, Isis B T;
Lohuizen, Romy van;
Uijl, Dennis W den;
Evertz, Reinder;
Greef, Bianca T A de;
Engelen, Baziel G M van;
Faber, Catharina G;
Vernooy, Kevin;
van Lohuizen, Romy;
den Uijl, Dennis W;
de Greef, Bianca T A;
van Engelen, Baziel G M

Publication type:

journal article

Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 5, p. 1723, doi. 10.1093/brain/awae379

By:

Franken, Marnix;
van der Wal, Erik;
Zheng, Dongxu;
Hamer, Bianca den;
Vliet, Patrick J van der;
Lemmers, Richard J L F;
van den Heuvel, Anita;
Dorn, Alexandra L;
Duivenvoorden, Cas G A;
Groen, Stijn L M in 't;
Freund, Christian;
Eussen, Bert;
Tawil, Rabi;
Engelen, Baziel G M van;
Pijnappel, W W M Pim;
Maarel, Silvère M van der;
Greef, Jessica C de

Publication type:

Article

KBTBD13 is a novel cardiomyopathy gene.

Published in:

Human Mutation, 2022, v. 43, n. 12, p. 1860, doi. 10.1002/humu.24499

By:

de Winter, Josine M.;
Bouman, Karlijn;
Strom, Joshua;
Methawasin, Mei;
Jongbloed, Jan D. H.;
van der Roest, Wilma;
Wijngaarden, Jan van;
Timmermans, Janneke;
Nijveldt, Robin;
van den Heuvel, Frederik;
Kamsteeg, Erik‐Jan;
van Engelen, Baziel G.;
Galli, Ricardo;
Bogaards, Sylvia J. P.;
Boon, Reinier A.;
van der Pijl, Robbert J.;
Granzier, Henk;
Koeleman, Bobby;
Amin, Ahmad S.;
van der Velden, Jolanda

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

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 921, doi. 10.1038/ejhg.2008.39

By:

Trip, Jeroen;
Drost, Gea;
Verbove, Dennis J;
van der Kooi, Anneke J;
Kuks, Jan B M;
Notermans, Nicolette C;
Verschuuren, Jan J;
de Visser, Marianne;
van Engelen, Baziel G M;
Faber, Carin G;
Ginjaar, Ieke B

Publication type:

Article

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 155, doi. 10.1038/sj.ejhg.5201735

By:

Ruiter, E. Mariken;
Siers, Marloes H.;
van den Elzen, Christa;
van Engelen, Baziel G.;
Smeitink, Jan A. M.;
Rodenburg, Richard J.;
Hol, Frans A.

Publication type:

Article

Needle Electromyographic Findings in 98 Patients with Myositis.

Published in:

European Neurology, 2006, v. 55, n. 4, p. 183, doi. 10.1159/000093866

By:

Blijham, Paul J.;
Hengstman, Gerald J. D.;
Hama-Amin, Ako Dara;
van Engelen, Baziel G. M.;
Zwarts, Machiel J.

Publication type:

Article

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

Published in:

Nature Genetics, 2012, v. 44, n. 12, p. 1370, doi. 10.1038/ng.2454

By:

Lemmers, Richard J L F;
Tawil, Rabi;
Petek, Lisa M;
Balog, Judit;
Block, Gregory J;
Santen, Gijs W E;
Amell, Amanda M;
van der Vliet, Patrick J;
Almomani, Rowida;
Straasheijm, Kirsten R;
Krom, Yvonne D;
Klooster, Rinse;
Sun, Yu;
den Dunnen, Johan T;
Helmer, Quinta;
Donlin-Smith, Colleen M;
Padberg, George W;
van Engelen, Baziel G M;
de Greef, Jessica C;
Aartsma-Rus, Annemieke M

Publication type:

Article

Muscle Uridine Diphosphate-Hexosamines Do Not Decrease Despite Correction of Hyperglycemia-Induced Insulin Resistance in Type 2 Diabetes.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 11, p. 5179, doi. 10.1210/jc.2002-020440

By:

POUWELS, MARIE-JOSE J.;
SPAN, PAUL N.;
TACK, CEES J.;
OLTHAAR, ANDRÉ J.;
(FRED) SWEEP, C. G. J.;
VAN ENGELEN, BAZIEL G.;
DE JONG, JAN G.;
LUTTERMAN, JOS A.;
HERMUS, AD R.

Publication type:

Article

Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood.

Published in:

2022

By:

van Cruchten, Remco T. P.;
van As, Daniël;
Glennon, Jeffrey C.;
van Engelen, Baziel G. M.;
't Hoen, Peter A. C.;
the ReCognitION consortium;
Okkersen, K;
Jimenez-Moreno, C;
Wenninger, S;
Daidj, F;
Cumming, S;
Littleford, R;
Monckton, D G;
Lochmüller, H;
Catt, M;
Faber, C G;
Hapca, A;
Donnan, P T;
Gorman, G;
Bassez, G

Publication type:

journal article

Comparison of CMT1A and CMT2: similarities and differences.

Published in:

Journal of Neurology, 2006, v. 253, n. 12, p. 1572, doi. 10.1007/s00415-006-0260-6

By:

Bienfait, Henriette M. E.;
Verhamme, Camiel;
van Schaik, Ivo N.;
Koelman, Johannes H. T. M.;
Ongerboer de Visser, Bram W.;
de Haan, Rob J.;
Baas, Frank;
van Engelen, Baziel G. M.;
de Visser, Marianne

Publication type:

Article

Inclusion body myositis.

Published in:

Journal of Neurology, 2005, v. 252, n. 12, p. 1448, doi. 10.1007/s00415-005-0884-y

By:

Badrising, Umesh A.;
Maat-Schieman, Marion L. C.;
van Houwelingen, Johannes C.;
van Doorn, Pieter A.;
van Duinen, Sjoerd G.;
van Engelen, Baziel G. M.;
Faber, Carin G.;
Hoogendijk, Jessica E.;
de Jager, Aeiko E.;
Koehler, Peter J.;
de Visser, Marianne;
Verschuuren, Jan J. G. M.;
Wintzen, Axel R.

Publication type:

Article

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint.

Published in:

Journal of Neurology, 2003, v. 250, n. 11, p. 1307, doi. 10.1007/s00415-003-0201-6

By:

van der Sluijs, Barbara M.;
Hoefsloot, Lies H.;
Padberg, George W.;
van der Maarel, Silvère M.;
van Engelen, Baziel G. M.

Publication type:

Article

TDP-43 plasma levels do not differentiate sporadic inclusion body myositis from other inflammatory myopathies.

Published in:

2010

By:

Kuiperij, H. Brea;
Abdo, Wilson F.;
van Engelen, Baziel G.;
Schelhaas, H. Jurgen;
Verbeek, Marcel M.

Publication type:

Letter

Increased plasma amyloid-β<sub>42</sub> protein in sporadic inclusion body myositis.

Published in:

2009

By:

Abdo, Wilson F.;
van Mierlo, Tom;
Hengstman, Gerald J.;
Schelhaas, H. Jurgen;
van Engelen, Baziel G.;
Verbeek, Marcel M.

Publication type:

Letter

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.

Published in:

Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 223, doi. 10.1111/j.1529-8027.2012.00402.x

By:

Voermans, Nicol C.;
Kleefstra, Tjitske;
Gabreëls-Festen, Anneke A.;
Faas, Brigitte H. W.;
Kamsteeg, Erik-Jan;
Houlden, Henry;
Laurá, Matilde;
Polke, James M.;
Pandraud, Amelie;
van Ruissen, Fred;
van Engelen, Baziel G.;
Reilly, Mary M.

Publication type:

Article

Screening for antecedent Campylobacter jejuni infections and anti-ganglioside antibodies in idiopathic neuralgic amyotrophy.

Published in:

2011

By:

van Eijk, Jeroen J. J.;
van Alfen, Nens;
Tio-Gillen, Anne P.;
Maas, Marijke;
Herbrink, Paul;
Portier, Ruben P.;
van Doorn, Pieter A.;
van Engelen, Baziel G. M.;
Jacobs, Bart C.

Publication type:

Letter

The phenotype of the Gly94fsX222 PMP22 insertion.

Published in:

Journal of the Peripheral Nervous System, 2011, v. 16, n. 2, p. 113, doi. 10.1111/j.1529-8027.2011.00333.x

By:

de Vries, Sara D. J.;
Verhamme, Camiel;
van Ruissen, Fred;
van Paassen, Barbara W.;
Arts, Willem F.;
Kerkhoff, Henk;
van Engelen, Baziel G. M.;
Lammens, Martin;
de Visser, Marianne;
Baas, Frank;
van der Kooi, Anneke J.

Publication type:

Article

Muscle ultrasonography is a potential tool for detecting fasciitis in dermatomyositis and polymyositis: comment on the article by Yoshida et al.

Published in:

Arthritis & Rheumatology, 2017, v. 69, n. 11, p. 2248, doi. 10.1002/art.40240

By:

Bhansing, Kavish J.;
Rosmalen, Marieke H.;
Engelen, Baziel G.;
Riel, Piet L.;
Pillen, Sigrid;
Vonk, Madelon C.

Publication type:

Article

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

Cell Membrane Integrity in Myotonic Dystrophy Type 1: Implications for Therapy.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121556

By:

González-Barriga, Anchel;
Kranzen, Julia;
Croes, Huib J. E.;
Bijl, Suzanne;
van den Broek, Walther J. A. A.;
van Kessel, Ingeborg D. G.;
van Engelen, Baziel G. M.;
van Deutekom, Judith C. T.;
Wieringa, Bé;
Mulders, Susan A. M.;
Wansink, Derick G.

Publication type:

Article

Distinct Disease Phases in Muscles of Facioscapulohumeral Dystrophy Patients Identified by MR Detected Fat Infiltration.

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085416

By:

Janssen, Barbara H.;
Voet, Nicoline B. M.;
Nabuurs, Christine I.;
Kan, Hermien E.;
de Rooy, Jacky W. J.;
Geurts, Alexander C.;
Padberg, George W.;
van Engelen, Baziel G. M.;
Heerschap, Arend

Publication type:

Article

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.

Published in:

2021

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;
van Tilburg, Willem C. M.;
Buckens, Stan C. F. M.;
Dittrich, Anne T. M.;
Draaisma, Jos M. T.;
Janssen, Mirian C. H.;
Kamsteeg, Erik-Jan;
van Kleef, Esmee S. B.;
Koene, Saskia;
Smeitink, Jan A. M.;
Küsters, Benno;
van Tienen, Florence H. J.;
Smeets, Hubert J. M.;
van Engelen, Baziel G. M.

Publication type:

journal article

The FSHD muscle-blood biomarker: a circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy.

Published in:

Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad221

By:

Banerji, Christopher R. S.;
Greco, Anna;
Joosten, Leo A. B.;
van Engelen, Baziel G. M.;
Zammit, Peter S.

Publication type:

Article

Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.

Published in:

Brain Communications, 2022, v. 4, n. 6, p. 1, doi. 10.1093/braincomms/fcac292

By:

van den Bersselaar, Luuk R.;
Jungbluth, Heinz;
Kruijt, Nick;
Kamsteeg, Erik-Jan;
Fernandez-Garcia, Miguel A.;
Treves, Susan;
Riazi, Sheila;
Malagon, Ignacio;
van Eijk, Lucas T.;
van Alfen, Nens;
van Engelen, Baziel G. M.;
Scheffer, Gert-Jan;
Snoeck, Marc M. J.;
Voermans, Nicol C.

Publication type:

Article

Visuomotor processing is altered after peripheral nerve damage in neuralgic amyotrophy.

Published in:

Brain Communications, 2022, v. 4, n. 1, p. 1, doi. 10.1093/braincomms/fcac034

By:

Lustenhouwer, Renee;
Cameron, Ian G. M.;
Wolfs, Elze;
van Alfen, Nens;
Toni, Ivan;
Geurts, Alexander C. H.;
van Engelen, Baziel G. M.;
Groothuis, Jan T.;
Helmich, Rick C.

Publication type:

Article

Autoantibodies to Cytosolic 5'-Nucleotidase 1A in Primary Sjögren's Syndrome and Systemic Lupus Erythematosus.

Published in:

Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.01200

By:

Rietveld, Anke;
van den Hoogen, Luuk L.;
Bizzaro, Nicola;
Blokland, Sofie L. M.;
Dähnrich, Cornelia;
Gottenberg, Jacques-Eric;
Houen, Gunnar;
Johannsen, Nora;
Mandl, Thomas;
Meyer, Alain;
Nielsen, Christoffer T.;
Olsson, Peter;
van Roon, Joel;
Schlumberger, Wolfgang;
van Engelen, Baziel G. M.;
Saris, Christiaan G. J.;
Pruijn, Ger J. M.

Publication type:

Article

FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 2, p. 182, doi. 10.1093/hmg/ddad175

By:

Engquist, Elise N;
Greco, Anna;
Joosten, Leo A B;
Engelen, Baziel G M van;
Zammit, Peter S;
Banerji, Christopher R S

Publication type:

Article

Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1064, doi. 10.1093/hmg/ddy400

By:

van den Heuvel, Anita;
Mahfouz, Ahmed;
Kloet, Susan L;
Balog, Judit;
Engelen, Baziel G M van;
Tawil, Rabi;
Tapscott, Stephen J;
Maarel, Silvère M van der

Publication type:

Article

Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases.

Published in:

2014

By:

Knuijt, Simone;
Kalf, Johanna G.;
de Swart, Bert J. M.;
Drost, Gea;
Hendricks, Henk T.;
Geurts, Alexander C. H.;
van Engelen, Baziel G. M.

Publication type:

Journal Article

Research priorities of patients with neuromuscular disease.

Published in:

2013

By:

Nierse, Christi J.;
Abma, Tineke A.;
Horemans, Anja M. C.;
van Engelen, Baziel G. M.

Publication type:

Journal Article

Implementation of multidisciplinary advice to allied health care professionals regarding the management of their patients with neuromuscular diseases.

Published in:

2011

By:

Cup, Edith H. C.;
Pieterse, Allan J.;
Hendricks, Henk T.;
van Engelen, Baziel G. M.;
Oostendorp, Rob A. B.;
van der wilt, Gert Jan

Publication type:

Journal 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

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

NA-CONTROL: a study protocol for a randomised controlled trial to compare specific outpatient rehabilitation that targets cerebral mechanisms through relearning motor control and uses self-management strategies to improve functional capability of the upper extremity, to usual care in patients with neuralgic amyotrophy.

Published in:

2019

By:

Lustenhouwer, Renee;
van Alfen, Nens;
Cameron, Ian G. M.;
Toni, Ivan;
Geurts, Alexander C. H.;
Helmich, Rick C.;
van Engelen, Baziel G. M.;
Groothuis, Jan T.

Publication type:

Journal Article

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Published in:

Brain: A Journal of Neurology, 2010, v. 133, n. 3, p. 655, doi. 10.1093/brain/awp336

By:

Leen, Wilhelmina G.;
Klepper, Joerg;
Verbeek, Marcel M.;
Leferink, Maike;
Hofste, Tom;
van Engelen, Baziel G.;
Wevers, Ron A.;
Arthur, Todd;
Bahi-Buisson, Nadia;
Ballhausen, Diana;
Bekhof, Jolita;
van Bogaert, Patrick;
Carrilho, Inês;
Chabrol, Brigitte;
Champion, Michael P.;
Coldwell, James;
Clayton, Peter;
Donner, Elizabeth;
Evangeliou, Athanasios;
Ebinger, Friedrich

Publication type:

Article

The clinical spectrum of neuralgic amyotrophy in 246 cases.

Published in:

Brain: A Journal of Neurology, 2006, v. 129, n. 2, p. 438, doi. 10.1093/brain/awh722

By:

Nens van Alfen;
Baziel G. M. van Engelen

Publication type:

Article

Mutation-specific effects on thin filament length in thin filament myopathy.

Published in:

2016

By:

Winter, Josine M. de;
Joureau, Barbara;
Lee, Eun‐Jeong;
Kiss, Balázs;
Yuen, Michaela;
Gupta, Vandana A.;
Pappas, Christopher T.;
Gregorio, Carol C.;
Stienen, Ger J. M.;
Edvardson, Simon;
Wallgren‐Pettersson, Carina;
Lehtokari, Vilma‐Lotta;
Pelin, Katarina;
Malfatti, Edoardo;
Romero, Norma B.;
Engelen, Baziel G. van;
Voermans, Nicol C.;
Donkervoort, Sandra;
Bönnemann, C. G.;
Clarke, Nigel F.

Publication type:

journal 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

Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.

Published in:

BMC Neurology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12883-015-0294-4

By:

Stunnenberg, Bas C.;
Woertman, Willem;
Raaphorst, Joost;
Statland, Jeffrey M.;
Griggs, Robert C.;
Timmermans, Janneke;
Saris, Christiaan G.;
Schouwenberg, Bas J.;
Groenewoud, Hans M.;
Stegeman, Dick F.;
van Engelen, Baziel G. M.;
Drost, Gea;
van der Wilt, Gert Jan

Publication type:

Article

Effectiveness and cost-effectiveness of a self-management group program to improve social participation in patients with neuromuscular disease and chronic fatigue: protocol of the Energetic study.

Published in:

BMC Neurology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12883-015-0314-4

By:

Veenhuizen, Yvonne;
Cup, Edith H. C.;
Groothuis, Jan T.;
Hendriks, Jan C. M.;
Adang, Eddy M. M.;
van Engelen, Baziel G. M.;
Geurts, Alexander C. H.

Publication type:

Article

Effectiveness and cost-effectiveness of a self-management group program to improve social participation in patients with neuromuscular disease and chronic fatigue: protocol of the Energetic study.

Published in:

2015

By:

Veenhuizen, Yvonne;
Cup, Edith Hc;
Groothuis, Jan T;
Hendriks, Jan Cm;
Adang, Eddy Mm;
van Engelen, Baziel Gm;
Geurts, Alexander Ch;
Cup, Edith H C;
Hendriks, Jan C M;
Adang, Eddy M M;
van Engelen, Baziel G M;
Geurts, Alexander C H

Publication type:

journal article

Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.

Published in:

2015

By:

Stunnenberg, Bas C;
Woertman, Willem;
Raaphorst, Joost;
Statland, Jeffrey M;
Griggs, Robert C;
Timmermans, Janneke;
Saris, Christiaan G;
Schouwenberg, Bas J;
Groenewoud, Hans M;
Stegeman, Dick F;
van Engelen, Baziel G M;
Drost, Gea;
van der Wilt, Gert Jan

Publication type:

journal article

Guillain–Barré syndrome as presenting feature in a patient with lupus nephritis, with complete resolution after cyclophosphamide treatment.

Published in:

Nephrology Dialysis Transplantation, 2001, v. 16, n. 4, p. 840, doi. 10.1093/ndt/16.4.840

By:

van Laarhoven, Hanneke W. M.;
Rooyer, Fergus A.;
van Engelen, Baziel G. M.;
van Dalen, Roelof;
Berden, Jo H. M.

Publication type:

Article

Primary cataract as a key to recognition of myotonic dystrophy type 1.

Published in:

European Journal of Ophthalmology, 2015, v. 25, n. 4, p. e46, doi. 10.5301/ejo.5000565

By:

Voermans, Nicol C.;
Erasmus, Corrie E.;
Ockeloen, Charlotte W.;
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Article

Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine.

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European Heart Journal, 2020, v. 41, n. 5, p. 614, doi. 10.1093/eurheartj/ehaa041

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Postema, Pieter G;
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Camm, A John;
Casado-Arroyo, Ruben;
Hoen, Ellen 't;
Hollak, Carla E M;
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Leenhardt, Antoine;
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Stunnenberg, Bas C;
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Article

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.

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Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 88, doi. 10.1186/1750-1172-7-88

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M.E. van der Beek, Nadine A.;
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de Visser, Marianne;
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J. Reuser, Arnold J.;
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Article

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.

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de Vries, Juna M.;
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J. Hop, Wim C.;
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de Visser, Marianne;
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Publication type:

Article

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

Published in:

2013

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Pluk, Helma;
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Schelhaas, Helenius J;
Verbeek, Marcel M;
Badrising, Umesh A;
Arnardottir, Snjolaug;
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Boelens, Wilbert C;
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Publication type:

Journal Article