Localizing chronic Q fever: a challenging query

Por Barten, Dennis G, Delsing, Corine E, Keijmel, Stephan P, Sprong, Tom, Timmermans, Janneke, Oyen, Wim JG, Nabuurs-Franssen, Marrigje H, Bleeker-Rovers, Chantal P
Publicado em 2013

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms

Por van Dijk, Gaby Pons, van der Kooi, Elly, Behin, Anthony, Smeets, Joep, Timmermans, Janneke, van der Maarel, Silvère, Padberg, George, Voermans, Nicol, van Engelen, Baziel
Publicado no Funct Neurol (2014)

Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers

Por Koene, Saskia, de Laat, Paul, van Tienoven, Doorlène H., Weijers, Gert, Vriens, Dennis, Sweep, Fred C. G. J., Timmermans, Janneke, Kapusta, Livia, Janssen, Mirian C. H., Smeitink, Jan A. M.
Publicado no JIMD Rep (2015)

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Por Vermeer, Sascha, Meijer, Rowdy P. P., Pijl, Benjamin J., Timmermans, Janneke, Cruysberg, Johannes R. M., Bos, Maaike M., Schelhaas, Helenius J., van de Warrenburg, Bart. P. C., Knoers, Nine V. A. M., Scheffer, Hans, Kremer, Berry
Publicado em 2008

The clinical spectrum of complete FBN1 allele deletions

Por Hilhorst-Hofstee, Yvonne, Hamel, Ben CJ, Verheij, Joke BGM, Rijlaarsdam, Marry EB, Mancini, Grazia MS, Cobben, Jan M, Giroth, Cindy, Ruivenkamp, Claudia AL, Hansson, Kerstin BM, Timmermans, Janneke, Moll, Henriette A, Breuning, Martijn H, Pals, Gerard
Publicado em 2011

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Por Vermeer, Sascha, Meijer, Rowdy P. P., Pijl, Benjamin J., Timmermans, Janneke, Cruysberg, Johannes R. M., Bos, Maaike M., Schelhaas, Helenius J., van de Warrenburg, Bart. P. C., Knoers, Nine V. A. M., Scheffer, Hans, Kremer, Berry
Publicado no Neurogenetics (2008)

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)

Inflammation Aggravates Disease Severity in Marfan Syndrome Patients

Por Radonic, Teodora, de Witte, Piet, Groenink, Maarten, de Waard, Vivian, Lutter, Rene, van Eijk, Marco, Jansen, Marnix, Timmermans, Janneke, Kempers, Marlies, Scholte, Arthur J., Hilhorst-Hofstee, Yvonne, van den Berg, Maarten P., van Tintelen, J. Peter, Pals, Gerard, Baars, Marieke J. H., Mulder, Barbara J. M., Zwinderman, Aeilko H.
Publicado em 2012

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Por Lindsay, Mark E., Schepers, Dorien, Ajit Bolar, Nikhita, Doyle, Jefferson, Gallo, Elena, Fert-Bober, Justyna, Kempers, Marlies J.E., Fishman, Elliot K., Chen, Yichun, Myers, Loretha, Bjeda, Djahita, Oswald, Gretchen, Elias, Abdullah F., Levy, Howard P., Anderlid, Britt-Marie, Yang, Margaret H., Bongers, Ernie M.H.F., Timmermans, Janneke, Braverman, Alan C., Canham, Natalie, Mortier, Geert R., Brunner, Han G., Byers, Peter H., Van Eyk, Jennifer, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L.
Publicado em 2012

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

Por Bertoli-Avella, Aida M., Gillis, Elisabeth, Morisaki, Hiroko, Verhagen, Judith M.A., de Graaf, Bianca M., van de Beek, Gerarda, Gallo, Elena, Kruithof, Boudewijn P.T., Venselaar, Hanka, Myers, Loretha A., Laga, Steven, Doyle, Alexander J., Oswald, Gretchen, van Cappellen, Gert W.A., Yamanaka, Itaru, van der Helm, Robert M., Beverloo, Berna, de Klein, Annelies, Pardo, Luba, Lammens, Martin, Evers, Christina, Devriendt, Koenraad, Dumoulein, Michiel, Timmermans, Janneke, Bruggenwirth, Hennie T., Verheijen, Frans, Rodrigus, Inez, Baynam, Gareth, Kempers, Marlies, Saenen, Johan, Van Craenenbroeck, Emeline M., Minatoya, Kenji, Matsukawa, Ritsu, Tsukube, Takuro, Kubo, Noriaki, Hofstra, Robert, Goumans, Marie Jose, Bekkers, Jos A., Roos-Hesselink, Jolien W., van de Laar, Ingrid M.B.H., Dietz, Harry C., Van Laer, Lut, Morisaki, Takayuki, Wessels, Marja W., Loeys, Bart L.
Publicado no J Am Coll Cardiol (2015)