Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures von Vanherpe, P., Fieuws, S., D'Hondt, A., Bleyenheuft, C., Demaerel, P., De Bleecker, J., Van den Bergh, P., Baets, J., Remiche, G., Verhoeven, K., Delstanche, S., Toussaint, M., Buyse, B., Van Damme, P., Depuydt, C. E., Claeys, K. G.

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Elevation of plasma 1-deoxy-sphingolipids in type 2 diabetes mellitus: a susceptibility to neuropathy? von Dohrn, M. F., Othman, A., Hirshman, S. K., Bode, H., Alecu, I., Fähndrich, E., Karges, W., Weis, J., Schulz, J. B., Hornemann, T., Claeys, K. G.

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CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE von ROMERO, N. B, LEHTOKARI, V.-L, LUNARDI, J, FARDEAU, M, PELIN, K, WALLGREN-PETTERSSON, C, QUIJANO-ROY, S, MONNIER, N, CLAEYS, K. G, CARLIER, R. Y, PELLEGRINI, N, ORLIKOWSKI, D, BAROIS, A, LAING, N. G

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Adult cases of mitochondrial DNA depletion due to TK2 defect: An expanding spectrum von BEHIN, A, JARDEL, C, CLAEYS, K. G, FAGART, J, LOUHA, M, ROMERO, N. B, LAFORET, P, EYMARD, B, LOMBES, A

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A novel GABRG2 mutation associated with febrile seizures von AUDENAERT, D, SCHWARTZ, E, DE JONGHE, P, CLAEYS, K. G, CLAES, L, DEPREZ, L, SUIS, A, VAN DYCK, T, LAGAE, L, VAN BROECKHOVEN, C, MACDONALD, R. L

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PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION von CLAEYS, K. G, MAISONOBE, T, BÖHM, J, LAPORTE, J, HEZODE, M, ROMERO, N. B, BROCHIER, G, BITOUN, M, CARLIER, R. Y, STOJKOVIC, T

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Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation von Barisic, N., Claeys, K. G., Sirotković‐Skerlev, M., Löfgren, A., Nelis, E., De Jonghe, P., Timmerman, V.

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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization von Bevilacqua, J. A., Monnier, N., Bitoun, M., Eymard, B., Ferreiro, A., Monges, S., Lubieniecki, F., Taratuto, A. L., Laquerrière, A., Claeys, K. G., Marty, I., Fardeau, M., Guicheney, P., Lunardi, J., Romero, N. B.

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Whole‐body muscle magnetic resonance imaging in patients with muscle symptoms: incidental findings and outcomes von Claeys, K. G., Goosens, V.

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Serum neurofilament light chain levels as a marker of upper motor neuron degeneration in patients with Amyotrophic Lateral Sclerosis von Gille, B., De Schaepdryver, M., Goossens, J., Dedeene, L., De Vocht, J., Oldoni, E., Goris, A., Van Den Bosch, L., Depreitere, B., Claeys, K. G., Tournoy, J., Van Damme, P., Poesen, K.

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Familial occipitotemporal lobe epilepsy and migraine with visual aura : Linkage to chromosome 9q von DEPREZ, L, PEETERS, K, DE JONGHE, P, VAN PAESSCHEN, W, CLAEYS, K. G, CLAES, L. R. F, SUIS, A, AUDENAERT, D, VAN DYCK, T, GOOSSENS, D, DEL-FAVERO, J

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Color Discrimination Involves Ventral and Dorsal Stream Visual Areas von Claeys, Kristl G., Dupont, Patrick, Cornette, Luc, Sunaert, Stefan, Van Hecke, Paul, De Schutter, Erik, Orban, Guy A.

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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern von Servián-Morilla, E., Cabrera-Serrano, M., Johnson, K., Pandey, A., Ito, A., Rivas, E., Chamova, T., Muelas, N., Mongini, T., Nafissi, S., Claeys, K. G., Grewal, R. P., Takeuchi, M., Hao, H., Bönnemann, C., Lopes Abath Neto, O., Medne, L., Brandsema, J., Töpf, A., Taneva, A., Vilchez, J. J., Tournev, I., Haltiwanger, R. S., Takeuchi, H., Jafar-Nejad, H., Straub, V., Paradas, Carmen

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A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus von Audenaert, D, Claes, L, Claeys, K G, Deprez, L, Van Dyck, T, Goossens, D, Del-Favero, J, Van Paesschen, W, Van Broeckhoven, C, De Jonghe, P

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De novo KCNQ2 mutations in patients with benign neonatal seizures von Claes, L R F, Ceulemans, B, Audenaert, D, Deprez, L, Jansen, A, Hasaerts, D, Weckx, S, Claeys, K G, Del-Favero, J, Van Broeckhoven, C, De Jonghe, P

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Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II von COEN, K, PAREYSON, D, PIEBER, T. R, NELIS, E, DE JONGHE, P, TIMMERMAN, V, AUER-GRUMBACH, M, BUYSE, G, GOEMANS, N, CLAEYS, K. G, VERPOORTEN, N, LAURA, M, SCAIOLI, V, SALMHOFER, W

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An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease von Kulessa, M., Weyer‐Menkhoff, I., Viergutz, L., Kornblum, C., Claeys, K. G., Schneider, I., Plöckinger, U., Young, P., Boentert, M., Vielhaber, S., Mawrin, C., Bergmann, M., Weis, J., Ziagaki, A., Stenzel, W., Deschauer, M., Nolte, D., Hahn, A., Schoser, B., Schänzer, A.

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PRRT2 mutations: exploring the phenotypical boundaries von Djémié, Tania, Weckhuysen, Sarah, Holmgren, Philip, Hardies, Katia, Van Dyck, Tine, Hendrickx, Rik, Schoonjans, An-Sofie, Van Paesschen, Wim, Jansen, Anna C, De Meirleir, Linda, Selim, Laila Abdel Moteleb, Girgis, Marian Y, Buyse, Gunnar, Lagae, Lieven, Smets, Katrien, Smouts, Iris, Claeys, Kristl G, Van den Bergh, Vic, Grisar, Thierry, Blatt, Ilan, Shorer, Zamir, Roelens, Filip, Afawi, Zaid, Helbig, Ingo, Ceulemans, Berten, De Jonghe, Peter, Suls, Arvid

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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy von Claeys, Kristl G., Züchner, Stephan, Kennerson, Marina, Berciano, José, Garcia, Antonio, Verhoeven, Kristien, Storey, Elsdon, Merory, John R., Bienfait, Henriette M. E., Lammens, Martin, Nelis, Eva, Baets, Jonathan, De Vriendt, Els, Berneman, Zwi N., De Veuster, Ilse, Vance, Jefferey M., Nicholson, Garth, Timmerman, Vincent, De Jonghe, Peter

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Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene von Claeys, K.G, Fardeau, M, Schröder, R, Suominen, T, Tolksdorf, K, Behin, A, Dubourg, O, Eymard, B, Maisonobe, T, Stojkovic, T, Faulkner, G, Richard, P, Vicart, P, Udd, B, Voit, T, Stoltenburg, G

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