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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Quality of life after pulmonary embolism: the development of the PEmb‐QoL questionnaire von COHN, D. M., NELIS, E. A., BUSWEILER, L. A., KAPTEIN, A. A., MIDDELDORP, S.

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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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Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy von Senderek, Jan, Bergmann, Carsten, Ramaekers, Vincent T., Nelis, Eva, Bernert, Günther, Makowski, Astrid, Züchner, Stephan, De Jonghe, Peter, Rudnik‐Schöneborn, Sabine, Zerres, Klaus, Schröder, J. Michael

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Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy von NELIS, E, ERDEM, S, VERELLEN, C, TAN, E, DEMIRCI, M, VAN BROECKHOVEN, C, DE JONGHE, P, TOPALOGLU, H, TIMMERMAN, V, VAN DEN BERGH, P. Y. K, BELPAIRE-DETHIOU, M.-C, CEUTERICK, C, VAN GERWEN, V, CUESTA, A, PEDROLA, L, PALAU, F, GABREËLS-FESTEN, A. A. W. M

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Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene von Bähr, M, Andres, F, Timmerman, V, Nelis, M E, Van Broeckhoven, C, Dichgans, J

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Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation von Gallardo, E., Claeys, K. G., Nelis, E., García, A., Canga, A., Combarros, O., Timmerman, V., De Jonghe, P., Berciano, J.

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The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype von DE JONGHE, P, TIMMERMAN, V, VAN BROECKHOVEN, C, CEUTERICK, C, NELIS, E, DE VRIENDT, E, LÖFGREN, A, VERCRUYSSEN, A, VERELLEN, C, VAN MALDERGEM, L, MARTIN, J.-J

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Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype von TIMMERMAN, V, DE JONGHE, P, CEUTERICK, C, DE VRIENDT, E, LÖFGREN, A, NELIS, E, WARNER, L. E, LUPSKI, J. R, MARTIN, J.-J, VAN BROECKHOVEN, C

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Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12–q13.3 von Nelis, E, Berciano, J, Verpoorten, N, Coen, K, Dierick, I, Van Gerwen, V, Combarros, O, De Jonghe, P, Timmerman, V

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A von Vance, Jeffery M, Züchner, Stephan, Mersiyanova, Irina V, Muglia, Maria, Bissar-Tadmouri, Nisrine, Rochelle, Julie, Dadali, Elena L, Zappia, Mario, Nelis, Eva, Patitucci, Alessandra, Senderek, Jan, Parman, Yesim, Evgrafov, Oleg, Jonghe, Peter De, Takahashi, Yuji, Tsuji, Shoij, Pericak-Vance, Margaret A, Quattrone, Aldo, Battologlu, Esra, Polyakov, Alexander V, Timmerman, Vincent, Schröder, J Michael

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Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies von BORT, S, NELIS, E, VAN BROECKHOVEN, C, PALAU, F, TIMMERMAN, V, SEVILLA, T, CRUZ-MARTINEZ, A, MARTINEZ, F, MILLAN, J. M, ARPA, J, VILCHEZ, J. J, PRIETO, F

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The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication von Vance, J.M, Van Broeckhoven, C, Timmerman, V, Othman, K. Ben, Nieuwenhuijsen, B.W, Chen, K.L, Wang, S, Raeymaekers, P, Van Hul, W, van Ommen, G-J.B, Hanemann, C.O, Müller, H.W, Martin, J-J, Leach, R.J, Fischbeck, K.H, De Jonghe, P, Cullen, B, Nelis, E

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Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a) von Raeymaekers, P, Timmerman, V, Nelis, E, De Jonghe, P, Hoogenduk, J.E, Baas, F, Barker, D.F, Martin, J.J, De Visser, M, Bolhuis, P.A, Van Broeckhoven, C

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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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P155 The value of neurophysiologic study in patients with hereditary neuropathies von Rasic, V. Milic, Todorovic, S, Nelis, E, Keckarevic, M, Mladenovic, J, Nikodinovic, J

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PO32-FR-24 Heterozygous missense mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy or silver syndrome von Rakocevic Stojanovic, V, Rasic, V. Milic, Van Broeckhoven, C, De Jonghe, P, Nelis, E, Nikolic, A, Tasic, Z, Marjanovic, I, Lavrnic, D

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MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2 von Verhoeven, Kristien, Claeys, Kristl G., Züchner, Stephan, Schröder, J. Michael, Weis, Joachim, Ceuterick, Chantal, Jordanova, Albena, Nelis, Eva, De Vriendt, Els, Van Hul, Matthias, Seeman, Pavel, Mazanec, Radim, Saifi, Gulam Mustafa, Szigeti, Kinga, Mancias, Pedro, Butler, Ian J., Kochanski, Andrzej, Ryniewicz, Barbara, De Bleecker, Jan, Van den Bergh, Peter, Verellen, Christine, Van Coster, Rudy, Goemans, Nathalie, Auer-Grumbach, Michaela, Robberecht, Wim, Milic Rasic, Vedrana, Nevo, Yoram, Tournev, Ivajlo, Guergueltcheva, Velina, Roelens, Filip, Vieregge, Peter, Vinci, Paolo, Moreno, Maria Teresa, Christen, H.-J., Shy, Michael E., Lupski, James R., Vance, Jeffery M., De Jonghe, Peter, Timmerman, Vincent

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GDAP1 mutations in Czech families with early-onset CMT von Baránková, L, Vyhnálková, E, Züchner, S, Mazanec, R, Sakmaryová, I, Vondráček, P, Merlini, L, Bojar, M, Nelis, E, De Jonghe, P, Seeman, P

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S90L BSCL2 mutation causing Silver syndrome with optic nerve involvement von Fischer, D, Hartmann-Fussenegger, S, Weis, J, Nelis, E, Timmermann, V, von Mitzlaff, H.C, Weber, M

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