Desmin-related myopathy by van Spaendonck-Zwarts, KY, van Hessem, L, Jongbloed, JDH, de Walle, HEK, Capetanaki, Y, van der Kooi, AJ, van Langen, IM, van den Berg, MP, van Tintelen, JP

Get full text

Abnormal eyeblink conditioning is an early marker of cerebellar dysfunction in preclinical SCA3 mutation carriers by van Gaalen, J., Maas, R. P. P. W. M., Ippel, E. F., Elting, M. W., van Spaendonck-Zwarts, K. Y., Vermeer, S., Verschuuren-Bemelmans, C., Timmann, D., van de Warrenburg, Bart P.

Get full text

Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families by Houweling, A C, Gijezen, L M, Jonker, M A, van Doorn, M B A, Oldenburg, R A, van Spaendonck-Zwarts, K Y, Leter, E M, van Os, T A, van Grieken, N C T, Jaspars, E H, de Jong, M M, Bongers, E M H F, Johannesma, P C, Postmus, P E, van Moorselaar, R J A, van Waesberghe, J-Htm, Starink, T M, van Steensel, M A M, Gille, J J P, Menko, F H

Get full text

Genetic advances in sarcomeric cardiomyopathies: state of the art by Ho, Carolyn Y, Charron, Philippe, Richard, Pascale, Girolami, Francesca, Van Spaendonck-Zwarts, Karin Y, Pinto, Yigal

Get full text

Circulating matrix γ‐carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome by CRANENBURG, E. C. M., VAN SPAENDONCK‐ZWARTS, K. Y., BONAFE, L., MITTAZ CRETTOL, L., RÖDIGER, L. A., DIKKERS, F. G., VAN ESSEN, A. J., SUPERTI‐FURGA, A., ALEXANDRAKIS, E., VERMEER, C., SCHURGERS, L. J., LAVERMAN, G. D.

Get full text

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects by van der Linde, I. H. M., Hiemstra, Y. L., Bökenkamp, R., van Mil, A. M., Breuning, M. H., Ruivenkamp, C., ten Broeke, S. W., Veldkamp, R. F., van Waning, J. I., van Slegtenhorst, M. A., van Spaendonck-Zwarts, K. Y., Lekanne Deprez, R. H., Herkert, J. C., Boven, L., van der Zwaag, P. A., Jongbloed, J. D. H., Bootsma, M., Barge-Schaapveld, D. Q. C. M.

Get full text

RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling by van den Hoogenhof, Maarten M.G, Beqqali, Abdelaziz, Amin, Ahmad S, van der Made, Ingeborg, Aufiero, Simona, Khan, Mohsin A.F, Schumacher, Cees A, Jansweijer, Joeri A, van Spaendonck-Zwarts, Karin Y, Remme, Carol Ann, Backs, Johannes, Verkerk, Arie O, Baartscheer, Antonius, Pinto, Yigal M, Creemers, Esther E

Get full text

Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy by van Spaendonck-Zwarts, Karin Y, Posafalvi, Anna, van den Berg, Maarten P, Hilfiker-Kleiner, Denise, Bollen, Ilse A E, Sliwa, Karen, Alders, Mariëlle, Almomani, Rowida, van Langen, Irene M, van der Meer, Peter, Sinke, Richard J, van der Velden, Jolanda, Van Veldhuisen, Dirk J, van Tintelen, J Peter, Jongbloed, Jan D H

Get full text

A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers by van der Kevie-Kersemaekers, A. M. F., Suijkerbuijk, R. F., Moll, F. C. P., Dijkhuizen, T., van Spaendonck-Zwarts, K. Y., Drok, G., Bouman, K., Sikkema-Raddatz, B.

Get full text

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia by Pennings, Maartje, Schouten, Meyke I, van Gaalen, Judith, Meijer, Rowdy P P, de Bot, Susanne T, Kriek, Marjolein, Saris, Christiaan G J, van den Berg, Leonard H, van Es, Michael A, Zuidgeest, Dick M H, Elting, Mariet W, van de Kamp, Jiddeke M, van Spaendonck-Zwarts, Karin Y, Die-Smulders, Christine de, Brilstra, Eva H, Verschuuren, Corien C, de Vries, Bert B A, Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A, Jaeger, B, Schieving, Jolanda H, van de Warrenburg, Bart P, Kamsteeg, Erik-Jan

Get full text

Pregnancy, cardiomyopathies, and genetics by Van Tintelen, J Peter, Pieper, Petronella G, Van Spaendonck-Zwarts, Karin Y, Van Den Berg, Maarten P

Get full text

Peripartum cardiomyopathy: Euro Observational Research Program by Hoes, M. F., van Hagen, I., Russo, F., Van Veldhuisen, D. J., Van den Berg, M. P., Roos-Hesselink, J., van Spaendonck-Zwarts, K. Y., van der Meer, P.

Get full text

Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D by van Spaendonck-Zwarts, K. Y., van der Kooi, A. J., van den Berg, M. P., Ippel, E. F., Boven, L. G., Yee, W.-C., van den Wijngaard, A., Brusse, E., Hoogendijk, J. E., Doevendans, P. A., de Visser, M., Jongbloed, J. D. H., van Tintelen, J. P.

Get full text

Time-varying cox model for heart failure prediction in phospholamban p.(Arg14del)-positive individuals by Van Der Heide, M Y C, Verstraelen, T E, Van Drie, E, De Brouwer, R, Proost, V M, Houweling, A C, Dickhoff, C, Germans, T, Gimeno-Blanes, G R, Te Riele, A S J M, Van Spaendonck-Zwarts, K Y, Cox, M G P J, Van Tintelen, J P, Zwinderman, A H, Wilde, A A M

Get full text

New joint model for the dynamic prediction of heart failure in phospholamban (PLN) p.(Arg14del) positive individuals by Van Der Heide, M Y C, Verstraelen, T E, Van Drie, E, De Brouwer, R, Proost, V M, Houweling, A C, Dickhoff, C, Germans, T, Gimeno-Blanes, J R, Te Riele, A S J M, Van Spaendonck-Zwarts, K Y, Cox, G P J, Van Tintelen, J P, Zwinderman, A H, Wilde, A A M

Get full text

The impact of comorbidities and substance use on heart failure events and major ventricular arrhythmias in phospholamban p.(Arg14del) positive individuals by Van Der Heide, M Y C, Verstraelen, T E, Mahmoud, B, Van Drie, E, De Brouwer, R, Proost, V M, Houweling, A C, Dickhoff, C, Germans, T, Te Riele, A S J M, Van Spaendonck-Zwarts, K Y, Cox, G P J, Van Tintelen, J P, Zwinderman, A H, Wilde, A A M

Get full text

SMARCA4-associated schwannomatosis by Chan-Pak-Choon, Fiona, Roca, Carla, Chong, Anne-Sophie, Nogué, Clara, Dahlum, Sonja, Austin, Rachel, Mar Fan, Helen, van Spaendonck-Zwarts, Karin Y., Lambie, Neil K., Robertson, Thomas, Siebert, Reiner, Rivera, Barbara, Foulkes, William D.

Get full text

Thromboembolic events in peripartum cardiomyopathy: Results from the ESC EORP PPCM registry by Fouad, Doaa, Budaj, A., Danchin, N., Maggioni, A.P., Zeymer, U., Sliwa, K., Mbakwem, A., Pieske, B., Schaufelberger, M., Favaloro, R., Absi, D., Barton, T., Aldridge, E., Chow, Y.Y., Sandhofer, A., Bahshaliyev, A., Kagambega, L.J., Lez, D. Malamba, Elrakshy, Y., Hassanein, M., Abdeall, D., Elenin, H. Abo, Ebaid, H., Farag, S., El Rahman, Y H Abd, Awad, R., Halawa, S. Ibrahim, Saad, A., El‐shorbagy, A., Shalaby, G., Hamekoski, S., Menez, T., Logeart, D., Koenig, T., Lim, L., Cullington, D., Simms, A., Martin, K., Babu, R. Ravi, Singh, A.K., Karunamay, B.B., Kodati, D., Dasari, R., Dewi, T.I., Prameswari, H. Sasmaya, Al‐Farhan, H.A., Al‐Hussein, A., Al‐Saedi, Ghazi, Mahmood, G.M., Mohammed, M.K., Ridha, A.F., Vazan, A., Grosu, A., Borghi, C., Brunetti, N.D., Bajraktari, G., Turgunov, M., Mamasaidova, S., Balkevicine, L., Chee, K.H., Onoh, R., Ojji, D., Ishaq, N., Abubakar, H., Mohammed, B., Kilasho, M., Hussain, S., Saligan, J.R., Wisniowska‐Smialek, S., Zycinski, P., Rutkowska, A. Bartczak, Kaluzna‐Oleksy, M., Plaskota, K., Dzielinska, Z., Kryczka, K., Zazerskaya, I., Milinkovic, I., Kong, W. KF, Tan, J.L., Poh, K.K., Briton, O., Zamora, E., Pascual, C., Muncharaz, J. Farre, Gomez‐Bueno, M., Cobo‐Marcos, M., Briceno, A., Galvan, E. De Teresa, Robles‐Mezcua, A., Hullin, R., Sarac, L., Cankurtaran, B., Kitooleko, S., Semu, T., Komaranchath, A.M., Gerges, F., Albakshy, F., Wani, S., Beitler, C., Bekbulatova, R.

Get full text

Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension by Postma, Alex V., Rapp, Christina K., Knoflach, Katrin, Volk, Alexander E., Lemke, Johannes R., Ackermann, Maximilian, Regamey, Nicolas, Latzin, Philipp, Celant, Lucas, Jansen, Samara M.A., Bogaard, Harm J., Ilgun, Aho, Alders, Mariëlle, van Spaendonck-Zwarts, Karin Y., Jonigk, Danny, Klein, Christoph, Gräf, Stefan, Kubisch, Christian, Houweling, Arjan C., Griese, Matthias

Get full text

A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers by van der Kevie-Kersemaekers, A M F, Suijkerbuijk, R F, Moll, F C P, Dijkhuizen, T, van Spaendonck-Zwarts, K Y, Drok, G, Bouman, K, Sikkema-Raddatz, B

Get full text