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The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview.
Published in:
EP: Europace, 2023, v. 25, n. 11, p. 1, doi. 10.1093/europace/euad336
By:
- Verheul, Lisa M;
- Ree, Martijn H van der;
- Groeneveld, Sanne A;
- Mulder, Bart A;
- Christiaans, Imke;
- Kapel, Gijs F L;
- Alings, Marco;
- Bootsma, Marianne;
- Barge-Schaapveld, Daniela Q C M;
- Balt, Jippe C;
- Yap, Sing-Chien;
- Krapels, Ingrid P C;
- Bekke, Rachel M A Ter;
- Volders, Paul G A;
- Crabben, Saskia N van der;
- Postema, Pieter G;
- Wilde, Arthur A M;
- Dooijes, Dennis;
- Baas, Annette F;
- Hassink, Rutger J
Publication type:
Article
Red flags and adjusted suspicion index for distinguishing hereditary transthyretin amyloid polyneuropathy from idiopathic axonal polyneuropathy.
Published in:
Neurological Sciences, 2023, v. 44, n. 10, p. 3679, doi. 10.1007/s10072-023-06859-w
By:
- Warendorf, Janna K.;
- van der Star, Gerjan M.;
- Dooijes, Dennis;
- Notermans, Nicolette C.;
- Vrancken, Alexander F. J. E.
Publication type:
Article
CSF Studies Facilitate DNA Diagnosis in Familial Alzheimer's Disease Due to a Presenilin-1 Mutation.
Published in:
Journal of Alzheimer's Disease, 2009, v. 17, n. 1, p. 53, doi. 10.3233/JAD-2009-1038
By:
- de Bot, Susanne T.;
- Kremer, H. P. H.;
- Dooijes, Dennis;
- Verbeek, Marcel M.
Publication type:
Article
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Published in:
2017
By:
- Nibbeling, Esther A. R.;
- Duarri, Anna;
- Verschuuren-Bemelmans, Corien C.;
- Fokkens, Michiel R.;
- Karjalainen, Juha M.;
- Smeets, Cleo J. L. M.;
- de Boer-Bergsma, Jelkje J.;
- van der Vries, Gerben;
- Dooijes, Dennis;
- Bampi, Giovana B.;
- Diemen, Cleo van;
- Brunt, Ewout;
- Ippel, Elly;
- Kremer, Berry;
- Vlak, Monique;
- Adir, Noam;
- Wijmenga, Cisca;
- van de Warrenburg, Bart P. C.;
- Franke, Lude;
- Sinke, Richard J.
Publication type:
journal article
Cell differentiation by interaction of two HMG-box proteins: Mat1-Mc activates M cell-specific genes in S.pombe by recruiting the ubiquitous transcription factor Ste11 to weak binding sites.
Published in:
EMBO Journal, 1997, v. 16, n. 13, p. 4021, doi. 10.1093/emboj/16.13.4021
By:
- Kjærulff, Søren;
- Dooijes, Dennis;
- Clevers, Hans;
- Nielsen, Olaf
Publication type:
Article
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 4031, doi. 10.3390/ijms24044031
By:
- Jansen, Mark;
- Schuldt, Maike;
- van Driel, Beau O.;
- Schmidt, Amand F.;
- Christiaans, Imke;
- van der Crabben, Saskia N.;
- Hoedemaekers, Yvonne M.;
- Dooijes, Dennis;
- Jongbloed, Jan D. H.;
- Boven, Ludolf G.;
- Deprez, Ronald H. Lekanne;
- Wilde, Arthur A. M.;
- Jans, Judith J. M.;
- van der Velden, Jolanda;
- de Boer, Rudolf A.;
- van Tintelen, J. Peter;
- Asselbergs, Folkert W.;
- Baas, Annette F.
Publication type:
Article
Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 519, doi. 10.1002/ajmg.a.38033
By:
- Baas, Annette F.;
- Spiering, Wilko;
- Moll, Frans L.;
- Page‐Christiaens, Lieve;
- Beenakkers, Ingrid C. M.;
- Dooijes, Dennis;
- Vonken, Evert‐Jan P. A.;
- van der Smagt, Jasper J.;
- Knoers, Nine V.;
- Koenen, Steven V.;
- van Herwaarden, Joost A.;
- Sieswerda, Gertjan Tj.
Publication type:
Article
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1196, doi. 10.1002/ajmg.a.36997
By:
- Monroe, Glen R;
- Harakalova, Magdalena;
- van der Crabben, Saskia N;
- Majoor‐Krakauer, Danielle;
- Bertoli‐Avella, Aida M;
- Moll, Frans L;
- Oranen, Björn I;
- Dooijes, Dennis;
- Vink, Aryan;
- Knoers, Nine V;
- Maugeri, Alessandra;
- Pals, Gerard;
- Nijman, Isaac J;
- van Haaften, Gijs;
- Baas, Annette F
Publication type:
Article
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01221-3
By:
- Niskanen, Julia E.;
- Ohlsson, Åsa;
- Ljungvall, Ingrid;
- Drögemüller, Michaela;
- Ernst, Robert F.;
- Dooijes, Dennis;
- van Deutekom, Hanneke W. M.;
- van Tintelen, J. Peter;
- Snijders Blok, Christian J. B.;
- van Vugt, Marion;
- van Setten, Jessica;
- Asselbergs, Folkert W.;
- Petrič, Aleksandra Domanjko;
- Salonen, Milla;
- Hundi, Sruthi;
- Hörtenhuber, Matthias;
- DoGA consortium;
- Daub, Carsten;
- Araujo, César L.;
- Quintero, Ileana B.
Publication type:
Article
Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases.
Published in:
PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0116599
By:
- Duarri, Anna;
- Nibbeling, Esther A. R.;
- Fokkens, Michiel R.;
- Meijer, Michel;
- Boerrigter, Melissa;
- Verschuuren-Bemelmans, Corien C.;
- Kremer, Berry P. H.;
- van de Warrenburg, Bart P.;
- Dooijes, Dennis;
- Boddeke, Erik;
- Sinke, Richard J.;
- Verbeek, Dineke S.
Publication type:
Article
Genetic Overlap between Apparently Sporadic Motor Neuron Diseases.
Published in:
PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048983
By:
- van Blitterswijk, Marka;
- Vlam, Lotte;
- van Es, Michael A.;
- van der Pol, W-Ludo;
- Hennekam, Eric A. M.;
- Dooijes, Dennis;
- Schelhaas, Helenius J.;
- van der Kooi, Anneke J.;
- de Visser, Marianne;
- Veldink, Jan H.;
- van den Berg, Leonard H.
Publication type:
Article
A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers.
Published in:
European Heart Journal, 2024, v. 45, n. 32, p. 2968, doi. 10.1093/eurheartj/ehae409
By:
- Carrick, Richard T;
- Gasperetti, Alessio;
- Protonotarios, Alexandros;
- Murray, Brittney;
- Laredo, Mikael;
- van der Schaaf, Iris;
- Dooijes, Dennis;
- Syrris, Petros;
- Cannie, Douglas;
- Tichnell, Crystal;
- Gilotra, Nisha A;
- Cappelletto, Chiara;
- Medo, Kristen;
- Saguner, Ardan M;
- Duru, Firat;
- Hylind, Robyn J;
- Abrams, Dominic J;
- Lakdawala, Neal K;
- Cadrin-Tourigny, Julia;
- Targetti, Mattia
Publication type:
Article
Functional Analysis of a Novel Androgen Receptor Mutation, Q902K, in an Individual with Partial Androgen Insensitivity.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 1, p. 507, doi. 10.1210/jc.2004-0057
By:
- Umar, Arzu;
- Berrevoets, Cor A.;
- Mai Van, N.;
- van Leeuwen, Marije;
- Verbiest, Michael;
- Kleijer, Wim J.;
- Dooijes, Dennis;
- Grootegoed, J. Anton;
- Drop, Stenvert L. S.;
- Brinkmann, Albert O.
Publication type:
Article
Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation.
Published in:
Cardiology, 2012, v. 123, n. 3, p. 181, doi. 10.1159/000342717
By:
- van der Smagt, Jasper J.;
- van der Zwaag, Paul A.;
- van Tintelen, J. Peter;
- PJ. Cox, Moniek G.;
- M. Wilde, Arthur A.;
- van Langen, Irene M.;
- Ummels, Amber;
- Hennekam, F.A.M.;
- Dooijes, Dennis;
- Gerbens, Frans;
- Bikker, Hennie;
- Hauer, Richard N. W;
- Doevendans, Pieter A.
Publication type:
Article
Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation.
Published in:
Cardiology, 2012, v. 123, n. 3, p. 181, doi. 10.1159/000342717
By:
- van der Smagt, Jasper J.;
- van der Zwaag, Paul A.;
- van Tintelen, J. Peter;
- Cox, Moniek G.P.J.;
- Wilde, Arthur A.M.;
- van Langen, Irene M.;
- Ummels, Amber;
- Hennekam, F.A.M.;
- Dooijes, Dennis;
- Gerbens, Frans;
- Bikker, Hennie;
- Hauer, Richard N.W.;
- Doevendans, Pieter A.
Publication type:
Article
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
Published in:
Human Genetics, 2008, v. 122, n. 6, p. 595, doi. 10.1007/s00439-007-0436-x
By:
- Wessels, Marja W.;
- Graaf, Bianca M.;
- Cohen-Overbeek, Titia E.;
- Spitaels, Silja E.;
- Groot-de Laat, Lotte E.;
- Ten Cate, Folkert J.;
- Frohn-Mulder, Ingrid F. M.;
- de Krijger, Ronald;
- Bartelings, Margot M.;
- Essed, Nienke;
- Wladimiroff, Jury W.;
- Niermeijer, Martinus F.;
- Heutink, Peter;
- Oostra, Ben A.;
- Dooijes, Dennis;
- Bertoli-Avella, Aida M.;
- Willems, Patrick J.
Publication type:
Article
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.
Published in:
Human Genetics, 2005, v. 117, n. 1, p. 88, doi. 10.1007/s00439-005-1278-z
By:
- Verbeek, Dineke S.;
- van de Warrenburg, Bart P.C.;
- Hennekam, F.A.M.;
- Dooijes, Dennis;
- Ippel, P. F.;
- Verschuuren-Bemelmans, Corien C.;
- Kremer, H. P. H.;
- Sinke, Richard J.
Publication type:
Article
Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC).
Published in:
Journal of Cardiovascular Electrophysiology, 2018, v. 29, n. 7, p. 1004, doi. 10.1111/jce.13621
By:
- Murray, Brittney;
- Hoorntje, Edgar T.;
- te Riele, Anneline S. J. M.;
- Tichnell, Crystal;
- van der Heijden, Jeroen F.;
- Tandri, Harikrishna;
- van den Berg, Maarten P.;
- Jongbloed, Jan D. H.;
- Wilde, Arthur A. M.;
- Hauer, Richard N. W.;
- Calkins, Hugh;
- Judge, Daniel P.;
- James, Cynthia A.;
- van Tintelen, J. Peter;
- Dooijes, Dennis
Publication type:
Article
Influence of Genotype on Structural Atrial Abnormalities and Atrial Fibrillation or Flutter in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.
Published in:
Journal of Cardiovascular Electrophysiology, 2016, v. 27, n. 12, p. 1420, doi. 10.1111/jce.13094
By:
- BOURFISS, MIMOUNT;
- TE RIELE, ANNELINE S.J.M.;
- MAST, THOMAS P.;
- CRAMER, MAARTEN J.;
- HEIJDEN, JEROEN F.;
- VAN VEEN, TOON A.B.;
- LOH, PETER;
- DOOIJES, DENNIS;
- HAUER, RICHARD N.W.;
- VELTHUIS, BIRGITTA K.
Publication type:
Article
Prolonged Electromechanical Interval Unmasks Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in the Subclinical Stage.
Published in:
Journal of Cardiovascular Electrophysiology, 2016, v. 27, n. 3, p. 303, doi. 10.1111/jce.12882
By:
- MAST, THOMAS P.;
- TESKE, ARCO J.;
- RIELE, ANNELINE SJM;
- GROENEWEG, JUDITH A.;
- HEIJDEN, JEROEN F.;
- VELTHUIS, BIRGITTA K.;
- LOH, PETER;
- DOEVENDANS, PIETER A.;
- VEEN, TOON A.;
- DOOIJES, DENNIS;
- BAKKER, JACQUES M.;
- HAUER, RICHARD N.;
- CRAMER, MAARTEN J.
Publication type:
Article
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 7, p. 922, doi. 10.1038/ejhg.2014.211
By:
- Wessels, Marja W;
- Herkert, Johanna C;
- Frohn-Mulder, Ingrid M;
- Dalinghaus, Michiel;
- van den Wijngaard, Arthur;
- de Krijger, Ronald R;
- Michels, Michelle;
- de Coo, Irenaeus FM;
- Hoedemaekers, Yvonne M;
- Dooijes, Dennis
Publication type:
Article
The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1071, doi. 10.1038/ejhg.2012.48
By:
- Kolder, Iris CRM;
- Michels, Michelle;
- Christiaans, Imke;
- Ten Cate, Folkert J;
- Majoor-Krakauer, Danielle;
- Danser, Alexander HJ;
- Lekanne Deprez, Robert H;
- Tanck, Michael WT;
- Wilde, Arthur AM;
- Bezzina, Connie R;
- Dooijes, Dennis
Publication type:
Article
Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.
Published in:
European Heart Journal, 2011, v. 32, n. 9, p. 1161, doi. 10.1093/eurheartj/ehr092
By:
- Christiaans, Imke;
- Birnie, Erwin;
- Bonsel, Gouke J.;
- Mannens, Marcel M.A.M.;
- Michels, Michelle;
- Majoor-Krakauer, Daniëlle;
- Dooijes, Dennis;
- van Tintelen, J. Peter;
- van den Berg, Maarten P.;
- Volders, Paul G.A.;
- Arens, Yvonne H.;
- van den Wijngaard, Arthur;
- Atsma, Douwe E.;
- Helderman-van den Enden, Apollonia T.J.M.;
- Houweling, Arjan C.;
- de Boer, Karin;
- van der Smagt, Jasper J.;
- Hauer, Richard N.W.;
- Marcelis, Carlo L.M.;
- Timmermans, Janneke
Publication type:
Article
Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers.
Published in:
European Heart Journal, 2009, v. 30, n. 21, p. 2593, doi. 10.1093/eurheartj/ehp306
By:
- Michels, Michelle;
- Soliman, Osama I.I.;
- Phefferkorn, Judith;
- Hoedemaekers, Yvonne M.;
- Kofflard, Marcel J.;
- Dooijes, Dennis;
- Majoor-Krakauer, Danielle;
- Ten Cate, Folkert J.
Publication type:
Article
First locus for primary pulmonary vein stenosis maps to chromosome 2q.
Published in:
European Heart Journal, 2009, v. 30, n. 20, p. 2485, doi. 10.1093/eurheartj/ehp271
By:
- van de Laar, Ingrid;
- Wessels, Marja;
- Frohn-Mulder, Ingrid;
- Dalinghaus, Michiel;
- de Graaf, Bianca;
- van Tienhoven, Marianne;
- van der Moer, Paul;
- Husen-Ebbinge, Margreet;
- Lequin, Maarten;
- Dooijes, Dennis;
- de Krijger, Ronald;
- Oostra, Ben A.;
- Bertoli-Avella, Aida M.
Publication type:
Article
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
Published in:
European Heart Journal, 2003, v. 24, n. 20, p. 1848, doi. 10.1016/S0195-668X(03)00466-4
By:
- Alders, Marielle;
- Jongbloed, Roselie;
- Deelen, Wout;
- van den Wijngaard, Arthur;
- Doevendans, Pieter;
- Ten Cate, Folkert;
- Regitz-Zagrosek, Vera;
- Vosberg, Hans-Peter;
- van Langen, Irene;
- Wilde, Arthur;
- Dooijes, Dennis;
- Mannens, Marcel
Publication type:
Article
Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis.
Published in:
Cardiovascular Research, 2017, v. 113, n. 1, p. 102, doi. 10.1093/cvr/cvw234
By:
- te Riele, Anneline S. J. M.;
- Agullo-Pascual, Esperanza;
- James, Cynthia A.;
- Leo-Macias, Alejandra;
- Cerrone, Marina;
- Mingliang Zhang;
- Xianming Lin;
- Bin Lin;
- Sobreira, Nara L.;
- Amat-Alarcon, Nuria;
- Marsman, Roos F.;
- Murray, Brittney;
- Tichnell, Crystal;
- van der Heijden, Jeroen F.;
- Dooijes, Dennis;
- van Veen, Toon A. B.;
- Tandri, Harikrishna;
- Fowler, Steven J.;
- Hauer, Richard N. W.;
- Tomaselli, Gordon
Publication type:
Article
Corrigendum to: Functional analysis of novel TBX5 T-box mutations associated with Holt–Oram syndrome.
Published in:
2011
By:
- Boogerd, Cornelis J.J.;
- Dooijes, Dennis;
- Ilgun, Aho;
- Mathijssen, Inge B.;
- Hordijk, Roel;
- van de Laar, Ingrid M.B.H.;
- Rump, Patrick;
- Veenstra-Knol, Hermine E.;
- Moorman, Antoon F.M.;
- Barnett, Phil;
- Postma, Alex V.
Publication type:
Erratum
Functional analysis of novel TBX5 T-box mutations associated with Holt–Oram syndrome.
Published in:
Cardiovascular Research, 2010, v. 88, n. 1, p. 130, doi. 10.1093/cvr/cvq178
By:
- Boogerd, Cornelis J. J.;
- Dooijes, Dennis;
- Ilgun, Aho;
- Hordijk, Roel;
- Van De Laar, Ingrid M. B. H.;
- Rump, Patrick;
- Veenstra-Knol, Hermine E.;
- Moorman, Antoon F. M.;
- Barnett, Phil;
- Postma, Alex V.
Publication type:
Article
Cardiac aldosterone in subjects with hypertrophic cardiomyopathy.
Published in:
Journal of the Renin-Angiotensin-Aldosterone System, 2006, v. 7, n. 4, p. 225, doi. 10.3317/jraas.2006.042
By:
- Wenxia Chai;
- Hoedemaekers, Yvonne M;
- van Schaik, Ron HN;
- van Fessem, Marianne;
- Garrelds, Ingrid M;
- Saris, Jasper J;
- Dooijes, Dennis;
- ten Cate, Folkert J;
- Kofflard, Marcel MJ;
- Danser, AH Jan
Publication type:
Article
Association of rare MSH6 variants with familial breast cancer.
Published in:
Breast Cancer Research & Treatment, 2010, v. 123, n. 2, p. 315, doi. 10.1007/s10549-009-0634-4
By:
- Wasielewski, Marijke;
- Riaz, Muhammad;
- Vermeulen, Joyce;
- Ouweland, Ans;
- Labrijn-Marks, Ineke;
- Olmer, Renske;
- Spaa, Linda;
- Klijn, Jan;
- Meijers-Heijboer, Hanne;
- Dooijes, Dennis;
- Schutte, Mieke
Publication type:
Article
Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations.
Published in:
Pflügers Archiv: European Journal of Physiology, 2014, v. 466, n. 8, p. 1619, doi. 10.1007/s00424-013-1391-0
By:
- Dijk, Sabine;
- Boontje, Nicky;
- Heymans, Martijn;
- Cate, Folkert;
- Michels, Michelle;
- Remedios, Cris;
- Dooijes, Dennis;
- Slegtenhorst, Marjon;
- Velden, Jolanda;
- Stienen, Ger
Publication type:
Article
Base J originally found in Kinetoplastida is also a minor constituent of nuclear DNA of Euglena gracilis.
Published in:
Nucleic Acids Research, 2000, v. 28, n. 16, p. 3017, doi. 10.1093/nar/28.16.3017
By:
- Dooijes, Dennis;
- Chaves, Inês;
- Kieft, Rudo;
- Dirks-Mulder, Anita;
- Martin, William;
- Borst, Piet
Publication type:
Article
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Published in:
Netherlands Heart Journal, 2023, v. 31, n. 7/8, p. 300, doi. 10.1007/s12471-023-01798-9
By:
- Marsili, Luisa;
- van Lint, Freyja H. M.;
- Russo, Francesco;
- van Spaendonck-Zwarts, Karin Y.;
- Ader, Flavie;
- Bichon, Marie-Line;
- Faivre, Laurence;
- Houweling, Arjan C.;
- Isidor, Bertrand;
- Lekanne Deprez, Ronald H.;
- Cox, Moniek G. P. J.;
- Wilde, Arthur A. M.;
- Mazel, Benoit;
- Mercier, Sandra;
- Dooijes, Dennis;
- Millat, Gilles;
- Nguyen, Karine;
- Post, Jan G.;
- Richard, Pascale;
- van de Beek, Irma
Publication type:
Article
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Published in:
Netherlands Heart Journal, 2023, v. 31, n. 7/8, p. 315, doi. 10.1007/s12471-023-01791-2
By:
- Bos, Thomas A.;
- Piers, Sebastiaan R. D.;
- Wessels, Marja W.;
- Houweling, Arjan C.;
- Bökenkamp, Regina;
- Bootsma, Marianne;
- Bosman, Laurens P.;
- Evertz, Reinder;
- Hellebrekers, Debby M. E. I.;
- Hoedemaekers, Yvonne M.;
- Knijnenburg, Jeroen;
- Lekanne Deprez, Ronald;
- van Mil, Anneke M.;
- te Riele, Anneline S. J. M.;
- van Slegtenhorst, Marjon A.;
- Wilde, Arthur A. M.;
- Yap, Sing-Chien;
- Dooijes, Dennis;
- Koopmann, Tamara T.;
- van Tintelen, J. Peter
Publication type:
Article
P62‐positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy.
Published in:
Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 6, p. 3160, doi. 10.1111/jcmm.16388
By:
- Klooster, Zoë Joy;
- Sepehrkhouy, Shahrzad;
- Dooijes, Dennis;
- te Rijdt, Wouter P.;
- Schuiringa, Frederique S. A. M.;
- Lingeman, Jolanthe;
- Tintelen, Johannes Peter;
- Harakalova, Magdalena;
- Goldschmeding, Roel;
- Suurmeijer, Albert J. H.;
- Asselbergs, Folkert W.;
- Vink, Aryan
Publication type:
Article
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population‐based study.
Published in:
Brain: A Journal of Neurology, 2003, v. 126, n. 9, p. 2016, doi. 10.1093/brain/awg204
By:
- Sonia M. Rosso;
- Laura Donker Kaat;
- Timo Baks;
- Marijke Joosse;
- Inge de Koning;
- Yolande Pijnenburg;
- Daniëlle de Jong;
- Dennis Dooijes;
- Wouter Kamphorst;
- Rivka Ravid;
- Martinus F. Niermeijer;
- Frans Verheij;
- H. P. Kremer;
- Philip Scheltens;
- Cornelia M. van Duijn;
- Peter Heutink;
- John C. van Swieten
Publication type:
Article
A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes.
Published in:
European Journal of Heart Failure, 2015, v. 17, n. 5, p. 484, doi. 10.1002/ejhf.255
By:
- Harakalova, Magdalena;
- Kummeling, Gijs;
- Sammani, Arjan;
- Linschoten, Marijke;
- Baas, Annette F.;
- van der Smagt, Jasper;
- Doevendans, Pieter A.;
- van Tintelen, J. Peter;
- Dooijes, Dennis;
- Mokry, Michal;
- Asselbergs, Folkert W.
Publication type:
Article
Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.
Published in:
Annals of Neurology, 2003, v. 54, n. 5, p. 573
By:
- Esther Van Herpen;
- Sonia M. Rosso;
- Lies-Anne Serverijnen;
- Hirotaka Yoshida;
- Guido Breedveld;
- Raoul Van De Graaf;
- Wouter Kamphorst;
- Rivka Ravid;
- Rob Willemsen;
- Dennis Dooijes;
- Daniëlle Majoor-Krakauer;
- Johan M. Kros;
- R. Anthony Crowther;
- Michel Goedert;
- Peter Heutink;
- John C. Van Swieten
Publication type:
Article
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.
Published in:
2002
By:
- Rosso, Sonia M.;
- Van Herpen, Esther;
- Deelen, Wout;
- Kamphorst, Wouter;
- Severijnen, Lies-Anne;
- Willemsen, Rob;
- Ravid, Rivka;
- Niermeijer, Martinus F.;
- Dooijes, Dennis;
- Smith, Michael J.;
- Goedert, Michel;
- Heutink, Peter;
- Van Swieten, John C.
Publication type:
journal article
Evidence for an oligogenic basis of amyotrophic lateral sclerosis.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 17, p. 3776, doi. 10.1093/hmg/dds199
By:
- van Blitterswijk, Marka;
- van Es, Michael A.;
- Hennekam, Eric A.M.;
- Dooijes, Dennis;
- van Rheenen, Wouter;
- Medic, Jelena;
- Bourque, Pierre R.;
- Schelhaas, Helenius J.;
- van der Kooi, Anneke J.;
- de Visser, Marianne;
- de Bakker, Paul I.W.;
- Veldink, Jan H.;
- van den Berg, Leonard H.
Publication type:
Article
A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls.
Published in:
PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0167087
By:
- Wadman, Renske I.;
- Stam, Marloes;
- Jansen, Marc D.;
- van der Weegen, Yana;
- Wijngaarde, Camiel A.;
- Harschnitz, Oliver;
- Sodaar, Peter;
- Braun, Kees P. J.;
- Dooijes, Dennis;
- Lemmink, Henny H.;
- van den Berg, Leonard H.;
- van der Pol, W. Ludo
Publication type:
Article
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Published in:
Human Mutation, 2020, v. 41, n. 6, p. 1091, doi. 10.1002/humu.24004
By:
- Verdonschot, Job A. J.;
- Vanhoutte, Els K.;
- Claes, Godelieve R. F.;
- Helderman‐van den Enden, Apollonia T. J. M.;
- Hoeijmakers, Janneke G. J.;
- Hellebrekers, Debby M. E. I.;
- Haan, Amber;
- Christiaans, Imke;
- Lekanne Deprez, Ronald H.;
- Boen, Hanne M.;
- Craenenbroeck, Emeline M.;
- Loeys, Bart L.;
- Hoedemaekers, Yvonne M.;
- Marcelis, Carlo;
- Kempers, Marlies;
- Brusse, Esther;
- Waning, Jaap I.;
- Baas, Annette F.;
- Dooijes, Dennis;
- Asselbergs, Folkert W.
Publication type:
Article
Recombination hotspot in NF1 microdeletion patients.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 13, p. 1387, doi. 10.1093/hmg/10.13.1387
By:
- López-Correa, Catalina;
- Dorschner, Michael;
- Brems, Hilde;
- Lázaro, Conxi;
- Clementi, Maurizio;
- Upadhyaya, Meena;
- Dooijes, Dennis;
- Moog, Ute;
- Kehrer-Sawatzki, Hildegard;
- Rutkowski, J. Lynn;
- Fryns, Jean-Pierre;
- Marynen, Peter;
- Stephens, Karen;
- Legius, Eric
Publication type:
Article
Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Published in:
European Heart Journal, 2016, v. 37, n. 9, p. 755, doi. 10.1093/eurheartj/ehv387
By:
- te Riele, Anneline S. J. M.;
- James, Cynthia A.;
- Groeneweg, Judith A.;
- Sawant, Abhishek C.;
- Kammers, Kai;
- Murray, Brittney;
- Tichnell, Crystal;
- van der Heijden, Jeroen F.;
- Judge, Daniel P.;
- Dooijes, Dennis;
- van Tintelen, J. Peter;
- Hauer, Richard N. W.;
- Calkins, Hugh;
- Tandri, Harikrishna
Publication type:
Article
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
Published in:
European Heart Journal, 2015, v. 36, n. 14, p. 847, doi. 10.1093/eurheartj/ehu509
By:
- Bhonsale, Aditya;
- Groeneweg, Judith A.;
- James, Cynthia A.;
- Dooijes, Dennis;
- Tichnell, Crystal;
- Jongbloed, Jan D. H.;
- Murray, Brittney;
- te Riele, Anneline S. J. M.;
- van den Berg, Maarten P.;
- Bikker, Hennie;
- Atsma, Douwe E.;
- de Groot, Natasja M.;
- Houweling, Arjan C.;
- van der Heijden, Jeroen F.;
- Russell, Stuart D.;
- Doevendans, Pieter A.;
- van Veen, Toon A.;
- Tandri, Harikrishna;
- Wilde, Arthur A.;
- Judge, Daniel P.
Publication type:
Article
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.
Published in:
Neurogenetics, 2011, v. 12, n. 4, p. 263, doi. 10.1007/s10048-011-0302-9
By:
- Elfferich, Peter;
- Verleun-Mooijman, Marja;
- Maat-Kievit, J.;
- Warrenburg, Bart;
- Abdo, Wilson;
- Eshuis, Sylvia;
- Leenders, Klaus;
- Hovestadt, Ad;
- Zijlmans, Jan;
- Stroy, Jan-Pieter;
- Swieten, John;
- Boon, Agnita;
- Engelen, Klaartje;
- Verschuuren-Bemelmans, Corien;
- Lesnik-Oberstein, Saskia;
- Tassorelli, Cristina;
- Lopiano, Leonardo;
- Bonifati, Vincenzo;
- Dooijes, Dennis;
- Minkelen, Rick
Publication type:
Article
A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia.
Published in:
Movement Disorders, 2013, v. 28, n. 13, p. 1902, doi. 10.1002/mds.25572
By:
- van Gaalen, Judith;
- Vermeer, Sascha;
- van Veluw, Marjon;
- van de Warrenburg, Bart P.C.;
- Dooijes, Dennis
Publication type:
Article
Control of gene expression during lymphoid development: targeted gene disruption provides new clues.
Published in:
APMIS, 1997, v. 105, n. 1-6, p. 337, doi. 10.1111/j.1699-0463.1997.tb00579.x
By:
- DOOIJES, DENNIS;
- CLEVERS, HANS
Publication type:
Article

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