Els Vanhoutte

Research output

Research output per year 2011 2011 2015 2020 2023

• 26 Article
• 1 Doctoral Thesis

Research output per year

Research output per year

Search results

• Article

  A mutation update for the FLNC gene in myopathies and cardiomyopathies

  Verdonschot, J. A. J., Vanhoutte, E. K., Claes, G. R. F., van den Enden, A. T. J. M. H., Hoeijmakers, J. G. J., Hellebrekers, D. M. E. I., Haan, A. D., Christiaans, I., Deprez, R. H. L., Boen, H. M., Craenenbroeck, E. M. V., Loeys, B. L., Hoedemaekers, Y. M., Marcelis, C., Kempers, M., Brusse, E., Waning, J. I., Baas, A. F., Dooijes, D., Asselbergs, F. W., & 6 othersBarge-Schaapveld, D. Q. C. M., Koopman, P., Wijngaard, A. V. D., Heymans, S. R. B., Krapels, I. P. C. & Brunner, H. G., Jun 2020, In: Human Mutation. 41, 6, p. 1091-1111 21 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Changing outcome in inflammatory neuropathies Rasch-comparative responsiveness

  Draak, T. H. P., Vanhoutte, E. K., van Nes, S. I., Gorson, K. C., Van der Pol, W. L., Notermans, N. C., Nobile-Orazio, E., Leger, J-M., Van den Bergh, P. Y. K., Lauria, G., Bril, V., Katzberg, H., Lunn, M. P. T., Pouget, J., van der Kooi, A. J., Hahn, A. F., van Doorn, P. A., Cornblath, D. R., van den Berg, L. H., Faber, C. G., & 1 othersMerkies, I. S. J., 2 Dec 2014, In: Neurology. 83, 23, p. 2124-2132

  Research output: Contribution to journal › Article › Academic › peer-review

• Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy

  Stroeks, S. L. V. M., Hellebrekers, D. M. E. I., Claes, G. R. F., Tayal, U., Krapels, I. P. C., Vanhoutte, E. K., van den Wijngaard, A., Henkens, M. T. H. M., Ware, J. S., Heymans, S. R. B., Brunner, H. G. & Verdonschot, J. A. J., Nov 2021, In: Genetics in Medicine. 23, 11, p. 2186-2193 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Correlation of the patient's reported outcome Inflammatory-RODS with an objective metric in immune-mediated neuropathies

  Draak, T. H. P., Gorson, K. C., Vanhoutte, E. K., van Nes, S. I., van Doorn, P. A., Cornblath, D. R., van den Berg, L. H., Faber, C. G. & Merkies, I. S. J., Jul 2016, In: European Journal of Neurology. 23, 7, p. 1248-1253

  Research output: Contribution to journal › Article › Academic › peer-review

• De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

  Wijnen, I. G. M., Veenstra-Knol, H. E., Vansenne, F., Gerkes, E. H., de Koning, T., Vos, Y. J., Tijssen, M. A. J., Sival, D., Darin, N., Vanhoutte, E. K., Oosterloo, M., Pennings, M., van de Warrenburg, B. P. & Kamsteeg, E. J., 1 Jun 2020, In: European Journal of Human Genetics. 28, 6, p. 763-769 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy

  Stroeks, S. L. V. M., Hellebrekers, D., Claes, G. R. F., Krapels, I. P. C., Henkens, M. H. T. M., Sikking, M., Vanhoutte, E. K., van den Enden, A., Brunner, H. G., van den Wijngaard, A. & Verdonschot, J. A. J., Jul 2023, In: European Journal of Human Genetics. 31, 7, p. 776-783 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

• Does ability to walk reflect general functionality in inflammatory neuropathies?

  Draak, T. H. P., Gorson, K. C., Vanhoutte, E. K., van Nes, S. I., van Doorn, P. A., Cornblath, D. R., van den Berg, L. H., Faber, K. & Merkies, I. S. J., Jun 2016, In: Journal of the Peripheral Nervous System. 21, 2, p. 74-81

  Research output: Contribution to journal › Article › Academic › peer-review

• Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy

  Faber, C. G., Hoeijmakers, J. G. J., Ahn, H-S., Cheng, X., Han, C., Choi, J-S., Estacion, M., Lauria, G., Vanhoutte, E. K., Gerrits, M. M., Dib-Hajj, S., Drenth, J. P. H., Waxman, S. G. & Merkies, I. S. J., Jan 2012, In: Annals of Neurology. 71, 1, p. 26-39

  Research output: Contribution to journal › Article › Academic › peer-review

• Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar

  Draak, T. H. P., Pruppers, M. H. J., van Nes, S. I., Vanhoutte, E. K., Bakkers, M., Gorson, K. C., Van der Pol, W. -L., Lewis, R. A., Notermans, N. C., Nobile-Orazio, E., Leger, J-M., Van den Bergh, P. Y. K., Lauria, G., Bril, V., Katzberg, H., Lunn, M. P. T., Pouget, J., van der Kooi, A. J., van den Berg, L. H., van Doorn, P. A., & 4 othersCornblath, D. R., Hahn, A. F., Faber, C. G. & Merkies, I. S. J., Sept 2015, In: Journal of the Peripheral Nervous System. 20, 3, p. 269-276

  Research output: Contribution to journal › Article › Academic › peer-review

• Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison

  Vanhoutte, E. K., Draak, T. H. P., Gorson, K. C., van Nes, S. I., Hoeijmakers, J. G. J., Van der Pol, W. -L., Notermans, N. C., Lewis, R. A., Nobile-Orazio, E., Leger, J-M., Van den Bergh, P. Y. K., Lauria, G., Bril, V., Katzberg, H., Lunn, M. P. T., Pouget, J., van der Kooi, A. J., Hahn, A. F., van Doorn, P. A., Cornblath, D. R., & 3 othersvan den Berg, L. H., Faber, C. G. & Merkies, I. S. J., Sept 2015, In: Journal of the Peripheral Nervous System. 20, 3, p. 289-295

  Research output: Contribution to journal › Article › Academic › peer-review

• Implications of Genetic Testing in Dilated Cardiomyopathy

  Verdonschot, J. A. J., Hazebroek, M. R., Krapels, I. P. C., Henkens, M. T. H. M., Raafs, A., Wang, P., Merken, J. J., Claes, G. R. F., Vanhoutte, E. K., van den Wijngaard, A., Heymans, S. R. B. & Brunner, H. G., Oct 2020, In: Circulation: Genomic and Precision Medicine. 13, 5, p. 476-487 12 p., 003031.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Metabolic Profiling Associates with Disease Severity in Nonischemic Dilated Cardiomyopathy

  Verdonschot, J. A. J., Wang, P., Van Bilsen, M., Hazebroek, M. R., Merken, J. J., Vanhoutte, E. K., Henkens, M. T. H. M., Van Den Wijngaard, A., Glatz, J. F. C., Krapels, I. P. C., Brunner, H. G., Heymans, S. R. B. & Bierau, J., Mar 2020, In: Journal of Cardiac Failure. 26, 3, p. 212-222 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Modifying the Medical Research Council grading system through Rasch analyses

  Vanhoutte, E. K., Faber, C. G., van Nes, S. I., Jacobs, B. C., van Doorn, P. A., van Koningsveld, R., Cornblath, D. R., van der Kooi, A. J., Cats, E. A., van den Berg, L. H., Notermans, N. C., van der Pol, W. L., Hermans, M. C. E., van der Beek, N. A. M. E., Gorson, K. C., Eurelings, M., Engelsman, J., Boot, H., Meijer, R. J., Lauria, G., & 2 othersTennant, A. & Merkies, I. S. J., May 2012, In: Brain. 135, p. 1639-1649

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

  Verdonschot, J. A. J., Robinson, E. L., James, K. N., Mohamed, M. W., Claes, G. R. F., Casas, K., Vanhoutte, E. K., Hazebroek, M. R., Kringlen, G., Pasierb, M. M., van den Wijngaard, A., Glatz, J. F. C., Heymans, S. R. B., Krapels, I. P. C., Nahas, S., Brunner, H. G. & Szklarczyk, R., 8 Feb 2020, In: Molecular genetics & genomic medicine. 8, 2, 14 p., e1049.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Optimizing temperature threshold testing in small-fiber neuropathy

  Bakkers, M., Faber, C. G., Reulen, J. P. H., Hoeijmakers, J. G. J., Vanhoutte, E. K. & Merkies, I. S. J., Jun 2015, In: Muscle & Nerve. 51, 6, p. 870-876

  Research output: Contribution to journal › Article › Academic › peer-review

• Patients' and physicians' interpretation of chemotherapy-induced peripheral neurotoxicity

  Cavaletti, G., Cornblath, D. R., Merkies, I. S. J., Postma, T. J., Rossi, E., Alberti, P., Bruna, J., Argyriou, A. A., Briani, C., Velasco, R., Kalofonos, H. P., Psimaras, D., Ricard, D., Pace, A., Faber, C. G., Lalisang, R. I., Brandsma, D., Koeppen, S., Kerrigan, S., Schenone, A., & 31 othersGrisold, W., Mazzeo, A., Padua, L., Dorsey, S. G., Penas-Prado, M., Valsecchi, M. G., Frigeni, B., Lanzani, F., Mattavelli, L., Piatti, M. L., Binda, D., Bidoli, P., Cazzaniga, M., Cortinovis, D., Galie, E., Campagnolo, M., Salvalaggio, A., Ruiz, M., Vanhoutte, E. K., Boogerd, W., Hense, J., Grant, R., Storey, D., Reni, L., Demichelis, C., Pessino, A., Granata, G., Leandri, M., Ghigliotti, I., Plasmati, R. & CI-PeriNomS Grp, Mar 2019, In: Journal of the Peripheral Nervous System. 24, 1, p. 111-119 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

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  98 Downloads (Pure)

• Peripheral neuropathy in myotonic dystrophy type 1

  Hermans, M. C. E., Faber, C. G., Vanhoutte, E. K., Bakkers, M., De Baets, M. H., de Die-Smulders, C. E. M. & Merkies, I. S. J., Mar 2011, In: Journal of the Peripheral Nervous System. 16, 1, p. 24-29

  Research output: Contribution to journal › Article › Academic › peer-review

• Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy

  Stroeks, S. L. V. M., Lunde, I. G. G., Hellebrekers, D. M. E. I., Claes, G. R. F., Wakimoto, H., Gorham, J., Krapels, I. P. C., Vanhoutte, E. K. K., van den Wijngaard, A., Henkens, M. T. H. M., Raafs, A. G. G., Sikking, M. A. A., Broers, J. L. V., Nabben, M., Jones, E. A. V., Heymans, S. R. B., Brunner, H. G. G. & Verdonschot, J. A. J., 1 Apr 2023, In: Circulation: Genomic and Precision Medicine. 16, 2, 12 p., e003788.

  Research output: Contribution to journal › Article › Academic › peer-review

• Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia

  Ghorbani, F., de Boer-Bergsma, J., Verschuuren-Bemelmans, C. C., Pennings, M., de Boer, E. N., Kremer, B., Vanhoutte, E. K., de Vries, J. J., van de Berg, R., Kamsteeg, E-J., van Diemen, C. C., Westers, H., van de Warrenburg, B. P. & Verbeek, D. S., Nov 2022, In: Journal of Neurology. 269, 11, p. 6086-6093 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Rasch-built Overall Disability Scale (R-ODS) for immune-mediated peripheral neuropathies

  van Nes, S. I., Vanhoutte, E. K., van Doorn, P. A., Hermans, M., Bakkers, M., Kuitwaard, K., Faber, C. G. & Merkies, I. S. J., 25 Jan 2011, In: Neurology. 76, 4, p. 337-345

  Research output: Contribution to journal › Article › Academic › peer-review

• Rasch-built Overall Disability Scale for patients with chemotherapy-induced peripheral neuropathy (CIPN-R-ODS)

  Binda, D., Vanhoutte, E. K., Cavaletti, G., Cornblath, D. R., Postma, T. J., Frigeni, B., Alberti, P., Bruna, J., Velasco, R., Argyriou, A. A., Kalofonos, H. P., Psimaras, D., Ricard, D., Pace, A., Galie, E., Briani, C., Torre, C. D., Lalisang, R. I., Boogerd, W., Brandsma, D., & 44 othersKoeppen, S., Hense, J., Storey, D., Kerrigan, S., Schenone, A., Fabbri, S., Rossi, E., Valsecchi, M. G., Faber, C. G., Merkies, I. S. J., Galimberti, S., Lanzani, F., Mattavelli, L., Piatti, M. L., Bidoli, P., Cazzaniga, M., Cortinovis, D., Lucchetta, M., Campagnolo, M., Bakkers, M., Brouwer, B., Grant, R., Reni, L., Piras, B., Pessino, A., Padua, L., Granata, G., Leandri, M., Ghignotti, I., Plasmati, R., Pastorelli, F., Heimans, J. J., Eurelings, M., Meijer, R. J., Grisold, W., Pozza, E. L., Mazzeo, A., Toscano, A., Russo, M., Tomasello, C., Altavilla, G., Prado, M. P., Dominguez Gonzalez, C. & Dorsey, S. G., Sept 2013, In: European Journal of Cancer. 49, 13, p. 2910-2918

  Research output: Contribution to journal › Article › Academic › peer-review

• Revised normative values for grip strength with the Jamar dynamometer

  Peters, M. J. H., van Nes, S. I., Vanhoutte, E. K., Bakkers, M., van Doorn, P. A., Merkies, I. S. J. & Faber, C. G., Mar 2011, In: Journal of the Peripheral Nervous System. 16, 1, p. 47-50

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

  Leitao, E., Schroder, C., Parenti, I., Dalle, C., Rastetter, A., Kuhnel, T., Kuechler, A., Kaya, S., Gerard, B., Schaefer, E., Nava, C., Drouot, N., Engel, C., Piard, J., Duban-Bedu, B., Villard, L., Stegmann, A. P. A., Vanhoutte, E. K., Verdonschot, J. A. J., Kaiser, F. J., & 17 othersMau-Them, F. T., Scala, M., Striano, P., Frints, S. G. M., Argilli, E., Sherr, E. H., Elder, F., Buratti, J., Keren, B., Mignot, C., Heron, D., Mandel, J. L., Gecz, J., Kalscheuer, V. M., Horsthemke, B., Piton, A. & Depienne, C., 2 Nov 2022, In: Nature Communications. 13, 1, 17 p., 6570.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

  Seco, C. Z., Wesdorp, M., Feenstra, I., Pfundt, R., Hehir-Kwa, J. Y., Lelieveld, S. H., Castelein, S., Gilissen, C., de Wijs, I. J., Admiraal, R. J. C., Pennings, R. J. E., Kunst, H. P. M., van de Kamp, J. M., Tamminga, S., Houweling, A. C., Plomp, A. S., Maas, S. M., Gans, P. A. M. D. K., Kant, S. G., de Geus, C. M., & 10 othersFrints, S. G. M., Vanhoutte, E. K., van Dooren, M. F., van den Boogaard, M-J. H., Scheffer, H., Nelen, M., Kremer, H., Hoefsloot, L., Schraders, M. & Yntema, H. G., Feb 2017, In: European Journal of Human Genetics. 25, 3, p. 308-314 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• The tumour suppressor CDKN2A/p16(INK4a) regulates adipogenesis and bone marrow-dependent development of perivascular adipose tissue

  Wouters, K., Deleye, Y., Hannou, S. A., Vanhoutte, J., Marechal, X., Coisne, A., Tagzirt, M., Derudas, B., Bouchaert, E., Duhem, C., Vallez, E., Schalkwijk, C. G., Pattou, F., Montaigne, D., Staels, B. & Paumelle, R., Nov 2017, In: Diabetes & Vascular Disease Research. 14, 6, p. 516-524 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Vigorimeter grip strength in CIDP: a responsive tool that rapidly measures the effect of IVIG the ICE study

  Vanhoutte, E. K., Latov, N., Deng, C., Hanna, K., Hughes, R. A. C., Bril, V., Dalakas, M. C., Donofrio, P., van Doorn, P. A., Hartung, H-P. & Merkies, I. S. J., May 2013, In: European Journal of Neurology. 20, 5, p. 748-755

  Research output: Contribution to journal › Article › Academic › peer-review
• Doctoral Thesis

  Peripheral neuropathy outcome measures standardisation (PeriNomS) study part 2 : getting consensus

  Vanhoutte, E. K., 2015, Maastricht: Datawyse / Universitaire Pers Maastricht. 249 p.

  Research output: Thesis › Doctoral Thesis › Internal

  Open Access

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