Molecular genetics of distal hereditary motor neuropathies von Irobi, Joy, De Jonghe, Peter, Timmerman, Vincent

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The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V von Irobi, Joy, Van den Bergh, Peter, Merlini, Luciano, Verellen, Christine, Van Maldergem, Lionel, Dierick, Ines, Verpoorten, Nathalie, Jordanova, Albena, Windpassinger, Christian, De Vriendt, Els, Van Gerwen, Veerle, Auer-Grumbach, Michaela, Wagner, Klaus, Timmerman, Vincent, De Jonghe, Peter

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G.P.237 von Peeters, K, Litvinenko, I, Chamova, T, Asselbergh, B, Almeida-Souza, L, Geuens, T, Ydens, E, Zimon, M, Irobi, J, Vriendt, E. De, Winter, V. De, Ooms, T, Timmerman, V, Tournev, I, Jordanova, A

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Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? von DE JONGHE, P, AUER-GRUMBACH, M, HARTUNG, H.-P, TIMMERMAN, V, IROBI, J, WAGNER, K, PLECKO, B, KENNERSON, M, ZHU, D, DE VRIENDT, E, VAN GERWEN, V, NICHOLSON, G

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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy von Evgrafov, Oleg V, Mersiyanova, Irena, Irobi, Joy, Van Den Bosch, Ludo, Dierick, Ines, Leung, Conrad L, Schagina, Olga, Verpoorten, Nathalie, Van Impe, Katrien, Fedotov, Valeriy, Dadali, Elena, Auer-Grumbach, Michaela, Windpassinger, Christian, Wagner, Klaus, Mitrovic, Zoran, Hilton-Jones, David, Talbot, Kevin, Martin, Jean-Jacques, Vasserman, Natalia, Tverskaya, Svetlana, Polyakov, Alexander, Liem, Ronald K H, Gettemans, Jan, Robberecht, Wim, De Jonghe, Peter, Timmerman, Vincent

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Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy von Timmerman, Vincent, Jordanova, Albena, Irobi, Joy, Thomas, Florian P, Van Dijck, Patrick, Meerschaert, Kris, Dewil, Maarten, Dierick, Ines, Jacobs, An, De Vriendt, Els, Guergueltcheva, Velina, Rao, Chitharanjan V, Tournev, Ivailo, Gondim, Francisco A A, D'Hooghe, Marc, Van Gerwen, Veerle, Callaerts, Patrick, Van Den Bosch, Ludo, Timmermans, Jean-Pièrre, Robberecht, Wim, Gettemans, Jan, Thevelein, Johan M, De Jonghe, Peter, Kremensky, Ivo

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DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4) von Chen, Ying-Zhang, Bennett, Craig L., Huynh, Huy M., Blair, Ian P., Puls, Imke, Irobi, Joy, Dierick, Ines, Abel, Annette, Kennerson, Marina L., Rabin, Bruce A., Nicholson, Garth A., Auer-Grumbach, Michaela, Wagner, Klaus, De Jonghe, Peter, Griffin, John W., Fischbeck, Kenneth H., Timmerman, Vincent, Cornblath, David R., Chance, Phillip F.

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FP54-FR-03 Distal hereditary motor neuropathy in a large Czech family: clinical and electrophysiological study von Mazanec, R, Haberlová, J, Redlová, M, Irobi, J, Timmerman, V, Seeman, P

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Autosomal dominant congenital spinal muscular atrophy – A possible developmental deficiency of motor neurones? von Reddel, S, Ouvrier, R.A, Nicholson, G, Dierick, I, Irobi, J, Timmerman, V, Ryan, M.M

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Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy von Vennekens, Krist'l, Broeckhoven, Christine Van, Vandekerckhove, Joël, Mazanec, Radim, Jacobs, An, Gerwen, Veerle Van, Irobi, Joy, Jonghe, Peter De, Impe, Katrien Van, Gettemans, Jan, Vriendt, Els De, Hilton-Jones, David, Talbot, Kevin, Dierick, Ines, Michalik, Andrej, Seeman, Pavel, Verpoorten, Nathalie, Jordanova, Albena, Kremensky, Ivo, Robberecht, Wim, Tournev, Ivailo, Bosch, Ludo Van Den, Timmerman, Vincent

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Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome von Dierick, Ines, Malli, Roland, Petek, Erwin, Warner, Thomas T, Jonghe, Peter De, Crosby, Andrew H, den Bergh, Peter Van, Timmerman, Vincent, Maldergem, Lionel Van, Patel, Heema, Wagner, Klaus, Hörl, Gerd, Verpoorten, Nathalie, Reed, Johanna A, Auer-Grumbach, Michaela, Proukakis, Christos, Verellen, Christine, Windpassinger, Christian, Merlini, Luciano, Irobi, Joy

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Mutations in SEPT9 cause hereditary neuralgic amyotrophy von Jonghe, Peter De, Goossens, Dirk, Kurlemann, Gert, Mononen, Tarja, Nelis, Eva, Ringelstein, E Bernd, Schirmacher, Anja, Prats, José M, Bird, Thomas D, Kuhlenbäumer, Gregor, Stögbauer, Florian, Meuleman, Jan, Young, Peter, Del-Favero, Jurgen, Broeckhoven, Christine Van, Irobi, Joy, Betz, Benjamin G, Hannibal, Mark C, Watts, Giles D J, Timmerman, Vincent, Serradell, Adolfo Pou, Vriendt, Els De, Airaksinen, Eila, Hor, Hyun, Halfter, Hartmut, Chance, Phillip F, Verpoorten, Nathalie

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Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype–phenotype correlation study von Dierick, Ines, Baets, Jonathan, Irobi, Joy, Jacobs, An, De Vriendt, Els, Deconinck, Tine, Merlini, Luciano, Van den Bergh, Peter, Rasic, Vedrana Milic, Robberecht, Wim, Fischer, Dirk, Morales, Raul Juntas, Mitrovic, Zoran, Seeman, Pavel, Mazanec, Radim, Kochanski, Andrzej, Jordanova, Albena, Auer-Grumbach, Michaela, Helderman-van den Enden, A. T. J. M., Wokke, John H. J., Nelis, Eva, De Jonghe, Peter, Timmerman, Vincent

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Genetic identification of Candida species in HIV-positive patients using the polymerase chain reaction and restriction fragment length polymorphism analysis of its DNA von Irobi, J, Schoofs, A, Goossens, H

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Small heat shock proteins in inherited peripheral neuropathies von Dierick, Ines, Irobi, Joy, De Jonghe, Peter, Timmerman, Vincent

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G.P.237: Autosomal-dominant spinal muscular atrophy due to mutations in BICD2 gene in Bulgarian patients von Peeters, K., Litvinenko, I., Chamova, T., Asselbergh, B., Almeida-Souza, L., Geuens, T., Ydens, E., Zimon, M., Irobi, J., Vriendt, E. De, Winter, V. De, Ooms, T., Timmerman, V., Tournev, I., Jordanova, A.

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Distal Hereditary Motor Neuropathy Type II (Distal HMN Type II): Phenotype and Molecular Genetics von TIMMERMAN, V., BEUTEN, J., IROBI, J., De JONGHE, P., MARTIN, J.-J., VAN BROECKHOVEN, C.

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Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3 von IROBI, J., NELIS, E., MEULEMAN, J., VENKEN, K., JONGHE, P., BROECKHOVEN, C., TIMMERMAN, V.

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Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3 von IROBI, J., NELIS, E., MEULEMAN, J., VENKEN, K., DE JONGHE, P., VAN BROECKHOVEN, C., TIMMERMAN, V.

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G.O.1 In vitro expression of small heat shock protein HSPB8 and HSPB1 mutations causing axonal neuropathy von Irobi, J., Dierick, I., de Corte, V., Gettemans, J., Robberecht, W., Van Den Bosch, L., Timmermans, J.-P., De Jonghe, P., Timmerman, V.

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