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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
An evaluation of 24 h Holter monitoring in patients with myotonic dystrophy type 1.
Published in:
EP: Europace, 2023, v. 25, n. 1, p. 156, doi. 10.1093/europace/euac104
By:
- Joosten, Isis B T;
- Janssen, Cheyenne E W;
- Horlings, Corinne G C;
- Uijl, Dennis den;
- Evertz, Reinder;
- Engelen, Baziel G M van;
- Faber, Catharina G;
- Vernooy, Kevin
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
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 88, doi. 10.1186/1750-1172-7-88
By:
- M.E. van der Beek, Nadine A.;
- de Vries, Juna M.;
- C. Hagemans, Marloes L.;
- Wim C.J. Hop;
- Kroos, Marian A.;
- J. Wokke, John H.;
- de Visser, Marianne;
- M. van Engelen, Baziel G.;
- M. Kuks, Jan B.;
- van der Kooi, Anneke J.;
- Notermans, Nicolette C.;
- Faber, Karin G.;
- G.M. Verschuuren, Jan J.;
- J. Reuser, Arnold J.;
- van der Ploeg, Ans T.;
- van Doom, Pieter A.
Publication type:
Article
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 73, doi. 10.1186/1750-1172-7-73
By:
- de Vries, Juna M.;
- A.M.E. van der Beek, Nadine;
- J. Hop, Wim C.;
- J. Karstens, Francois P.;
- Wokke, John H.;
- de Visser, Marianne;
- M. van Engelen, Baziel G.;
- M. Kuks, Jan B.;
- van der Kooi, Anneke J.;
- Notermans, Nicolette C.;
- Faber, Catharina G.;
- G.M. Verschuuren, Jan J.;
- Kruijshaar, Michelle E.;
- J. Reuser, Arnold J.;
- van Doorn, Pieter A.;
- van der Pleog, Ans T.
Publication type:
Article
Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1).
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3081, doi. 10.3390/ijms23063081
By:
- Nieuwenhuis, Sylvia;
- Widomska, Joanna;
- Blom, Paul;
- 't Hoen, Peter-Bram A. C.;
- van Engelen, Baziel G. M.;
- Glennon, Jeffrey C.
Publication type:
Article
Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6059, doi. 10.3390/ijms21176059
By:
- Raz, Vered;
- Kroon, Rosemarie H. M. J. M.;
- Mei, Hailiang;
- Riaz, Muhammad;
- Buermans, Henk;
- Lassche, Saskia;
- Horlings, Corinne;
- Swart, Bert De;
- Kalf, Johanna;
- Harish, Pradeep;
- Vissing, John;
- Kielbasa, Szymon;
- van Engelen, Baziel G. M.
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
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
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
Three‐dimensional quantitative muscle ultrasound in patients with facioscapulohumeral dystrophy and myotonic dystrophy.
Published in:
Muscle & Nerve, 2023, v. 68, n. 4, p. 432, doi. 10.1002/mus.27943
By:
- de Jong, Leon;
- Greco, Anna;
- Nikolaev, Anton;
- Weijers, Gert;
- van Engelen, Baziel G. M.;
- de Korte, Chris L.;
- Fütterer, Jurgen J.
Publication type:
Article
Myotonic dystrophy type 1: A comparison between the adult‐ and late‐onset subtype.
Published in:
Muscle & Nerve, 2023, v. 67, n. 2, p. 130, doi. 10.1002/mus.27766
By:
- Joosten, Isis B.T.;
- Horlings, Corinne G. C.;
- Vosse, Bettine A. H.;
- Wagner, Anouk;
- Bovenkerk, David S. H.;
- Evertz, Reinder;
- Vernooy, Kevin;
- van Engelen, Baziel G. M.;
- Faber, Catharina G.
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
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
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
The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins.
Published in:
Skeletal Muscle, 2023, v. 13, n. 1, p. 1, doi. 10.1186/s13395-022-00310-y
By:
- Claus, Clothilde;
- Slavin, Moriya;
- Ansseau, Eugénie;
- Lancelot, Céline;
- Bah, Karimatou;
- Lassche, Saskia;
- Fiévet, Manon;
- Greco, Anna;
- Tomaiuolo, Sara;
- Tassin, Alexandra;
- Dudome, Virginie;
- Kusters, Benno;
- Declèves, Anne-Emilie;
- Laoudj-Chenivesse, Dalila;
- van Engelen, Baziel G. M.;
- Nonclercq, Denis;
- Belayew, Alexandra;
- Kalisman, Nir;
- Coppée, Frédérique
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
Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine.
Published in:
European Heart Journal, 2020, v. 41, n. 5, p. 614, doi. 10.1093/eurheartj/ehaa041
By:
- Postema, Pieter G;
- Schwartz, Peter J;
- Arbelo, Elena;
- Bannenberg, Wilbert J;
- Behr, Elijah R;
- Belhassen, Bernard;
- Brugada, Josep;
- Brugada, Pedro;
- Camm, A John;
- Casado-Arroyo, Ruben;
- Hoen, Ellen 't;
- Hollak, Carla E M;
- Kääb, Stefan;
- Lambiase, Pier D;
- Leenhardt, Antoine;
- Priori, Silvia G;
- Probst, Vincent;
- Stunnenberg, Bas C;
- Tfelt-Hansen, Jacob;
- Engelen, Baziel G M Van
Publication type:
Article
Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy.
Published in:
2022
By:
- Kroon, Rosemarie H. M. J. M.;
- Kalf, Johanna G.;
- Meijers, Rutger L.;
- de Swart, Bert J. M.;
- Cameron, Ian G. M.;
- Doorduin, Jonne;
- van Alfen, Nens;
- van Engelen, Baziel G. M.;
- Horlings, Corinne G. C.
Publication type:
journal article
Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole‐body fat‐referenced MRI: Protocol development, multicenter feasibility, and repeatability.
Published in:
Muscle & Nerve, 2022, v. 66, n. 2, p. 183, doi. 10.1002/mus.27638
By:
- Widholm, Per;
- Ahlgren, André;
- Karlsson, Markus;
- Romu, Thobias;
- Tawil, Rabi;
- Wagner, Kathryn R.;
- Statland, Jeffrey M.;
- Wang, Leo H.;
- Shieh, Perry B.;
- van Engelen, Baziel G. M.;
- Cadavid, Diego;
- Ronco, Lucienne;
- Odueyungbo, Adefowope O.;
- Jiang, John G.;
- Mellion, Michelle L.;
- Dahlqvist Leinhard, Olof
Publication type:
Article
Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study.
Published in:
2018
By:
- Mul, Karlien;
- Heatwole, Chad;
- Eichinger, Katy;
- Dilek, Nuran;
- Martens, William B.;
- Van Engelen, Baziel G. M.;
- Tawil, Rabi;
- Statland, Jeffrey M.
Publication type:
journal article
Increased fascial thickness of the deltoid muscle in dermatomyositis and polymyositis: An ultrasound study.
Published in:
2015
By:
- Bhansing, Kavish J.;
- Van Rosmalen, Marieke H.;
- Van Engelen, Baziel G.;
- Vonk, Madelon C.;
- Van Riel, Piet L.;
- Pillen, Sigrid
Publication type:
journal 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
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
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
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
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
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
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
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
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy.
Published in:
BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-70
By:
- Raz, Vered;
- Sterrenburg, Ellen;
- Routledge, Samantha;
- Venema, Andrea;
- van der Sluijs, Barbara M.;
- Trollet, Capucine;
- Dickson, George;
- van Engelen, Baziel G. M.;
- van der Maarel, Silvère M.;
- Antoniou, Michael N.
Publication type:
Article
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy.
Published in:
2013
By:
- Raz, Vered;
- Sterrenburg, Ellen;
- Routledge, Samantha;
- Venema, Andrea;
- van der Sluijs, Barbara M;
- Trollet, Capucine;
- Dickson, George;
- van Engelen, Baziel Gm;
- van der Maarel, Silvère M;
- Antoniou, Michael N;
- van Engelen, Baziel G M
Publication type:
journal 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
Effects of shared medical appointments on quality of life and cost-effectiveness for patients with a chronic neuromuscular disease. Study protocol of a randomized controlled trial.
Published in:
2011
By:
- Seesing, Femke M;
- Drost, Gea;
- van der Wilt, Gert-Jan;
- van Engelen, Baziel Gm;
- van Engelen, Baziel G M
Publication type:
journal article
Living with myotonic dystrophy; what can be learned from couples? A qualitative study.
Published in:
2011
By:
- Cup, Edith Hc;
- Kinébanian, Astrid;
- Satink, Ton;
- Pieterse, Allan J;
- Hendricks, Henk T;
- Oostendorp, Rob Ab;
- van der Wilt, Gert Jan;
- van Engelen, Baziel Gm;
- Cup, Edith H C;
- Oostendorp, Rob A B;
- van Engelen, Baziel G M
Publication type:
journal article
Causes and consequences of cerebral small vessel disease. The RUN DMC study: a prospective cohort study. Study rationale and protocol.
Published in:
BMC Neurology, 2011, v. 11, n. 1, p. 29, doi. 10.1186/1471-2377-11-29
By:
- van Norden, Anouk G. W.;
- de Laat, Karlijn F.;
- Gons, Rob A. R.;
- van Uden, Inge W. M.;
- van Dijk, Ewoud J.;
- van Oudheusden, Lucas J. B.;
- Esselink, Rianne A. J.;
- Bloem, Bastiaan R.;
- van Engelen, Baziel G. M.;
- Zwarts, Machiel J.;
- Tendolkar, Indira;
- Olde-Rikkert, Marcel G.;
- van der Vlugt, Maureen J.;
- Zwiers, Marcel P.;
- Norris, David G.;
- de Leeuw, Frank-Erik
Publication type:
Article
Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial.
Published in:
2010
By:
- Voet NB;
- Bleijenberg G;
- Padberg GW;
- van Engelen BG;
- Geurts ACh;
- Voet, Nicoline B M;
- Bleijenberg, Gijs;
- Padberg, George W;
- van Engelen, Baziel G M;
- Geurts, Alexander C H
Publication type:
journal article
Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial.
Published in:
BMC Neurology, 2010, v. 10, p. 56, doi. 10.1186/1471-2377-10-56
By:
- Voet, Nicoline B. M.;
- Bleijenberg, Gijs;
- Padberg, George W.;
- van Engelen, Baziel G. M.;
- Geurts, Alexander C. H.
Publication type:
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
Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNA<sup>Ile</sup>.
Published in:
Journal of Neurology, 2007, v. 254, n. 11, p. 1614, doi. 10.1007/s00415-007-0608-6
By:
- Smits, Bart W.;
- Hol, Frans A.;
- van den Heuvel, Lambert P.;
- Drost, Gea;
- Rodenburg, Richard J. T.;
- ter Laak, Henk J.;
- van Engelen, Baziel G. M.
Publication type:
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
Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review.
Published in:
Patient, 2019, v. 12, n. 4, p. 365, doi. 10.1007/s40271-019-00357-y
By:
- Landfeldt, Erik;
- Edström, Josefin;
- Jimenez-Moreno, Cecilia;
- van Engelen, Baziel G. M.;
- Kirschner, Janbernd;
- Lochmüller, Hanns
Publication type:
Article
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1203, doi. 10.1038/ejhg.2012.108
By:
- Kamsteeg, Erik-Jan;
- Kress, Wolfram;
- Catalli, Claudio;
- Hertz, Jens M;
- Witsch-Baumgartner, Martina;
- Buckley, Michael F;
- van Engelen, Baziel G M;
- Schwartz, Marianne;
- Scheffer, Hans
Publication type:
Article
Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 5, p. 567, doi. 10.1038/ejhg.2010.233
By:
- Coenen, Marieke J. H.;
- Tieleman, Alide A.;
- Schijvenaars, Mascha M. V. A. P.;
- Leferink, Maike;
- Ranum, Laura P. W.;
- Scheffer, Hans;
- van Engelen, Baziel G. M.
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
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

Found: 95