Polymyositis, invasion of non-necrotic muscle fibres, and the art of repetition

Por Hengstman, Gerald J D, van Engelen, Baziel G M
Publicado em 2004

High disease impact of myotonic dystrophy type 2 on physical and mental functioning

Por Tieleman, Alide A., Jenks, Kathleen M., Kalkman, Joke S., Borm, George, van Engelen, Baziel G. M.
Publicado em 2011

Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia

Por Smits, Bart W., Heijdra, Yvonne F., Cuppen, Femke W. A., van Engelen, Baziel G. M.
Publicado em 2011

Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken

Por Benveniste, Olivier, Stenzel, Werner, Hilton-Jones, David, Sandri, Marco, Boyer, Olivier, van Engelen, Baziel G. M.
Publicado no Acta Neuropathol (2015)

Overweight Is an Independent Risk Factor for Reduced Lung Volumes in Myotonic Dystrophy Type 1

Por Seijger, Charlotte G. W., Drost, Gea, Posma, Joram M., van Engelen, Baziel G. M., Heijdra, Yvonne F.
Publicado no PLoS One (2016)

Monitoring creatine and phosphocreatine by (13)C MR spectroscopic imaging during and after (13)C4 creatine loading: a feasibility study

Por Janssen, Barbara H., Lassche, Saskia, Hopman, Maria T., Wevers, Ron A., van Engelen, Baziel G. M., Heerschap, Arend
Publicado no Amino Acids (2016)

184th ENMC international workshop: Pain and fatigue in neuromuscular disorders(): 20–22 May 2011, Naarden, The Netherlands

Por de Groot, Imelda J.M., Voet, Nicoline B.M., van Middendorp, Henriët, Knoop, Hans (J) A., Rahbek, Jes, van Engelen, Baziel G.M.
Publicado em 2013

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Por 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
Publicado em 2012

Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype

Por 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
Publicado em 2011

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD

Por Balog, Judit, Thijssen, Peter E., de Greef, Jessica C., Shah, Bharati, van Engelen, Baziel G.M., Yokomori, Kyoko, Tapscott, Stephen J., Tawil, Rabi, van der Maarel, Silvère M.
Publicado em 2012

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

Por Lassche, Saskia, Stienen, Ger J.M., Irving, Tom C., van der Maarel, Silvère M., Voermans, Nicol C., Padberg, George W., Granzier, Henk, van Engelen, Baziel G.M., Ottenheijm, Coen A.C.
Publicado em 2013

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

Por 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
Publicado em 2014

Population-based incidence and prevalence of facioscapulohumeral dystrophy

Por Deenen, Johanna C.W., Arnts, Hisse, van der Maarel, Silvère M., Padberg, George W., Verschuuren, Jan J.G.M., Bakker, Egbert, Weinreich, Stephanie S., Verbeek, André L.M., van Engelen, Baziel G.M.
Publicado em 2014

A decline in PABPN1 induces progressive muscle weakness in Oculopharyngeal muscle dystrophy and in muscle aging

Por Anvar, Seyed Yahya, Raz, Yotam, Verwey, Nisha, van der Sluijs, Barbara, Venema, Andrea, Goeman, Jelle J, Vissing, John, van der Maarel, Silvère M, ‘t Hoen, Peter A.C., van Engelen, Baziel G.M., Raz, Vered
Publicado em 2013

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

Por Weterman, Marian A.J., Sorrentino, Vincenzo, Kasher, Paul R., Jakobs, Marja E., van Engelen, Baziel G.M., Fluiter, Kees, de Wissel, Marit B., Sizarov, Aleksander, Nürnberg, Gudrun, Nürnberg, Peter, Zelcer, Noam, Schelhaas, H. Jurgen, Baas, Frank
Publicado em 2012

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

Por Mul, Karlien, Vincenten, Sanne C.C., Voermans, Nicol C., Lemmers, Richard J.L.F., van der Vliet, Patrick J., van der Maarel, Silvère M., Padberg, George W., Horlings, Corinne G.C., van Engelen, Baziel G.M.
Publicado no Neurology (2017)

Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD

Por Krom, Yvonne D., Dumonceaux, Julie, Mamchaoui, Kamel, den Hamer, Bianca, Mariot, Virginie, Negroni, Elisa, Geng, Linda N., Martin, Nicolas, Tawil, Rabi, Tapscott, Stephen J., van Engelen, Baziel G.M., Mouly, Vincent, Butler-Browne, Gillian S., van der Maarel, Silvère M.
Publicado em 2012

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

Por 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
Publicado no BMC Neurol (2015)

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

Por 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.
Publicado no PLoS One (2015)

Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD

Por Krom, Yvonne D., Thijssen, Peter E., Young, Janet M., den Hamer, Bianca, Balog, Judit, Yao, Zizhen, Maves, Lisa, Snider, Lauren, Knopp, Paul, Zammit, Peter S., Rijkers, Tonnie, van Engelen, Baziel G. M., Padberg, George W., Frants, Rune R., Tawil, Rabi, Tapscott, Stephen J., van der Maarel, Silvère M.
Publicado em 2013