Search Results - "Vanhoutte, K"

Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy by Faber, Catharina G., Hoeijmakers, Janneke G. J., Ahn, Hye-Sook, Cheng, Xiaoyang, Han, Chongyang, Choi, Jin-Sung, Estacion, Mark, Lauria, Giuseppe, Vanhoutte, Els K., Gerrits, Monique M., Dib-Hajj, Sulayman, Drenth, Joost P. H., Waxman, Stephen G., Merkies, Ingemar S. J.

“…Objective: Small nerve fiber neuropathy (SFN) often occurs without apparent cause, but no systematic genetic studies have been performed in patients with…”
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X by Leitão, Elsa, Schröder, Christopher, Parenti, Ilaria, Dalle, Carine, Rastetter, Agnès, Kühnel, Theresa, Kuechler, Alma, Kaya, Sabine, Gérard, Bénédicte, Schaefer, Elise, Nava, Caroline, Drouot, Nathalie, Engel, Camille, Piard, Juliette, Duban-Bedu, Bénédicte, Villard, Laurent, Stegmann, Alexander P. A., Vanhoutte, Els K., Verdonschot, Job A. J., Kaiser, Frank J., Tran Mau-Them, Frédéric, Scala, Marcello, Striano, Pasquale, Frints, Suzanna G. M., Argilli, Emanuela, Sherr, Elliott H., Elder, Fikret, Buratti, Julien, Keren, Boris, Mignot, Cyril, Héron, Delphine, Mandel, Jean-Louis, Gecz, Jozef, Kalscheuer, Vera M., Horsthemke, Bernhard, Piton, Amélie, Depienne, Christel

“…Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes…”
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Rasch-built Overall Disability Scale (R-ODS) for immune-mediated peripheral neuropathies by VAN NES, S. I, VANHOUTTE, E. K, VAN DOORN, P. A, HERMANS, M, BAKKERS, M, KUITWAARD, K, FABER, C. G, MERKIES, I. S. J

“…To develop a patient-based, linearly weighted scale that captures activity and social participation limitations in patients with Guillain-Barré syndrome (GBS),…”
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Implications of Genetic Testing in Dilated Cardiomyopathy by Verdonschot, Job A.J., Hazebroek, Mark R., Krapels, Ingrid P.C., Henkens, Michiel T.H.M., Raafs, Anne, Wang, Ping, Merken, Jort J., Claes, Godelieve R.F., Vanhoutte, Els K., van den Wijngaard, Arthur, Heymans, Stephane R.B., Brunner, Han G.

“…Genetic analysis is a first-tier test in dilated cardiomyopathy (DCM). Electrical phenotypes are common in genetic DCM, but their exact contribution to the…”
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Vigorimeter grip strength in CIDP: a responsive tool that rapidly measures the effect of IVIG - the ICE study by 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.

“…Background and purpose In a recent trial in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), the ICE study, grip strength…”
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Particle shape and orientation in laser diffraction and static image analysis size distribution analysis of micrometer sized rectangular particles by Tinke, A.P., Carnicer, A., Govoreanu, R., Scheltjens, G., Lauwerysen, L., Mertens, N., Vanhoutte, K., Brewster, M.E.

“…Laser diffraction (LD) and static image analysis (SIA) of rectangular particles [United States Pharmacopeia, USP30-NF25, General Chapter , Optical Miroscopy.]…”
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De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability by Wijnen, Iris G M, Veenstra-Knol, Hermine E, Vansenne, Fleur, Gerkes, Erica H, de Koning, Tom, Vos, Yvonne J, Tijssen, Marina A J, Sival, Deborah, Darin, Niklas, Vanhoutte, Els K, Oosterloo, Mayke, Pennings, Maartje, van de Warrenburg, Bart P, Kamsteeg, Erik-Jan

“…Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability…”
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Rasch-ionale for neurologists by Vanhoutte, Els K., Hermans, Mieke C. E., Faber, Catharina G., Gorson, Kenneth C., Merkies, Ingemar S. J., Thonnard, Jean-L.

“…Outcome measures are considered the most important tools to monitor patients' outcome in both clinical and research settings. Measuring the clinical state of…”
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Rasch-built Overall Disability Scale for patients with chemotherapy-induced peripheral neuropathy (CIPN-R-ODS) by 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, Galiè, E, Briani, C, Dalla Torre, C, Lalisang, R.I, Boogerd, W, Brandsma, D, Koeppen, S, Hense, J, Storey, D, Kerrigan, S, Schenone, A, Fabbri, S, Rossi, E, Valsecchi, M.G, Faber, C.G, Merkies, I.S.J

“…Abstract Chemotherapy-induced peripheral neuropathy (CIPN) is a common neurological side-effect of cancer treatment and may lead to declines in patients’ daily…”
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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands by Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald Jc, Pennings, Ronald Je, Kunst, Henricus Pm, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia Am, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna Gm, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie-José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G

“…Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is…”
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Improving fatigue assessment in immune-mediated neuropathies: the modified Rasch-built fatigue severity scale by Van Nes, Sonja I., Vanhoutte, Els K., Faber, Catharina G., Garssen, Marcel, Van Doorn, Pieter A., Merkies, Ingemar S. J.

“…Fatigue is a major disabling complaint in patients with immune‐mediated neuropathies (IN). The 9‐item fatigue severity scale (FSS) has been used to assess…”
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Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers by Verdonschot, Job A. J., Robinson, Emma L., James, Kiely N., Mohamed, Mohamed W., Claes, Godelieve R. F., Casas, Kari, Vanhoutte, Els K., Hazebroek, Mark R., Kringlen, Gabriel, Pasierb, Michele M., Wijngaard, Arthur, Glatz, Jan F. C., Heymans, Stephane R. B., Krapels, Ingrid P. C., Nahas, Shareef, Brunner, Han G., Szklarczyk, Radek

“…Background A causal genetic mutation is found in 40% of families with dilated cardiomyopathy (DCM), leaving a large percentage of families genetically…”
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A review of underlying fundamentals in a wet dispersion size analysis of powders by Tinke, A.P., Govoreanu, R., Weuts, I., Vanhoutte, K., De Smaele, D.

“…For the particle size distribution (PSD) characterization of dry powders various analytical technologies are commercially available. Most of these techniques…”
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A new approach in the prediction of the dissolution behavior of suspended particles by means of their particle size distribution by Tinke, A.P., Vanhoutte, K., De Maesschalck, R., Verheyen, S., De Winter, H.

“…Though various attempts have been made in literature to model the particle size distribution of an active pharmaceutical ingredient (API) in function of the…”
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Peripheral neuropathy in myotonic dystrophy type 1 by Hermans, Mieke C. E., Faber, Catharina G., Vanhoutte, Els K., Bakkers, Mayienne, De Baets, Marc H., de Die-Smulders, Christine E. M., Merkies, Ingemar S. J.

“…Myotonic dystrophy 1 (DM1) is characterized by a wide range of clinical features. We aimed to verify the presence of peripheral nerve involvement in a large…”
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The Future Starts in the Past: The Loss of the Spiritual Centre of the University by Vanhoutte, Kristof K.P.

“…Discussion on the crisis in/of the humanities and in/of the university institution has in the past decades become ubiquitous. The surge of literature on the…”
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Bartleby the Example and Eros the Idea of the Work: Some considerations on Giorgio Agamben's 'The idea of study' by Vanhoutte, Kristof K.P.

“…The present article investigates the rhythm of study as described by Giorgio Agamben in 'The idea of study', present in Idea of prose. In this short treatise,…”
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196th ENMC international workshop: Outcome measures in inflammatory peripheral neuropathies 8–10 February 2013, Naarden, The Netherlands by Vanhoutte, Els K, Faber, Catharina G, Merkies, Ingemar S.J

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Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar by Draak, Thomas H. P., Pruppers, Mariëlle H. J., van Nes, Sonja I., Vanhoutte, Els K., Bakkers, Mayienne, Gorson, Kenneth C., Van der Pol, W.-Ludo, Lewis, Richard. A., Notermans, Nicolette C., Nobile-Orazio, Eduardo, Léger, Jean-Marc, Van den Bergh, Peter Y. K., Lauria, Giuseppe, Bril, Vera, Katzberg, Hans, Lunn, Michael P. T., Pouget, Jean, van der Kooi, Anneke J., van den Berg, Leonard H., van Doorn, Pieter A., Cornblath, David R., Hahn, Angelika F., Faber, Catharina G., Merkies, Ingemar S. J.

“…The Jamar dynamometer and Vigorimeter have been used to assess grip strength in immune‐mediated neuropathies, but have never been compared to each other…”
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The chemotherapy-induced peripheral neuropathy outcome measures standardization study: from consensus to the first validity and reliability findings by Cavaletti, G., Cornblath, D.R., Merkies, I.S.J., Postma, T.J., Rossi, E., Frigeni, B., Alberti, P., Bruna, J., Velasco, R., Argyriou, A.A., Kalofonos, H.P., Psimaras, D., Ricard, D., Pace, A., Galiè, E., Briani, C., Dalla Torre, C., Faber, C.G., Lalisang, R.I., Boogerd, W., Brandsma, D., Koeppen, S., Hense, J., Storey, D., Kerrigan, S., Schenone, A., Fabbri, S., Valsecchi, M.G., Mazzeo, A., Pace, A., Pessino, A., Schenone, A., Toscano, A., Argyriou, A.A., Brouwer, B., Frigeni, B., Piras, B., Briani, C., Dalla Torre, C., Dominguez Gonzalez, C., Faber, C.G., Tomasello, C., Binda, D., Brandsma, D., Cortinovis, D., Psimaras, D., Ricard, D., Storey, D., Cornblath, D.R., Galiè, E., Lindeck Pozza, E., Rossi, E., Vanhoutte, E.K., Lanzani, F., Pastorelli, F., Altavilla, G., Cavaletti, G., Granata, G., Kalofonos, H.P., Ghignotti, I., Merkies, I.S.J., Bruna, J., Hense, J., Heimans, J.J., Mattavelli, L., Padua, L., Reni, L., Bakkers, M., Boogerd, M., Campagnolo, M., Cazzaniga, M., Eurelings, M., Leandri, M., Lucchetta, M., Penas Prado, M., Russo, M., Valsecchi, M.G., Piatti, M.L., Alberti, P., Bidoli, P., Grant, R., Plasmati, R., Velasco, R., Lalisang, R.I., Meijer, R.J., Fabbri, S., Dorsey, S.G., Galimberti, S., Kerrigan, S., Koeppen, S., Postma, T.J., Boogerd, W., Grisold, W.

“…Chemotherapy-induced peripheral neuropathy (CIPN) is a debilitating and dose-limiting complication of cancer treatment. Thus far, the impact of CIPN has not…”
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