检索结果 - de Jonghe, Peter

Lessons learned from gene identification studies in Mendelian epilepsy disorders 由 Hardies, Katia, Weckhuysen, Sarah, De Jonghe, Peter, Suls, Arvid

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Treatment for Charcot‐Marie‐Tooth disease 由 Young, Peter, De Jonghe, Peter, Stögbauer, Florian, Butterfass‐Bahloul, Trude

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Localization of the Gene for the Intermediate Form of Charcot-Marie-Tooth to Chromosome 10q24.1-q25.1 由 Verhoeven, Kristien, Villanova, Marcello, Rossi, Alessandro, Malandrini, Alessandro, De Jonghe, Peter, Timmerman, Vincent

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Ascorbic acid for the treatment of Charcot‐Marie‐Tooth disease 由 Gess, Burkhard, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Pareyson, Davide, Young, Peter

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De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy 由 Claes, Lieve, Del-Favero, Jurgen, Ceulemans, Berten, Lagae, Lieven, Van Broeckhoven, Christine, De Jonghe, Peter

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Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy 由 Zhao, Hui, Race, Valérie, Matthijs, Gert, De Jonghe, Peter, Robberecht, Wim, Lambrechts, Diether, Van Damme, Philip

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novoSNP, a novel computational tool for sequence variation discovery 由 Weckx, Stefan, Del-Favero, Jurgen, Rademakers, Rosa, Claes, Lieve, Cruts, Marc, De Jonghe, Peter, Van Broeckhoven, Christine, De Rijk, Peter

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Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias 由 Bis, Dana M., Schüle, Rebecca, Reichbauer, Jennifer, Synofzik, Matthis, Rattay, Tim W., Soehn, Anne, de Jonghe, Peter, Schöls, Ludger, Züchner, Stephan

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A novel AARS mutation in a family with dominant myeloneuropathy 由 Motley, William W., Griffin, Laurie B., Mademan, Inès, Baets, Jonathan, De Vriendt, Els, De Jonghe, Peter, Antonellis, Anthony, Jordanova, Albena, Scherer, Steven S.

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STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations 由 Hayer, Stefanie Nicole, Deconinck, Tine, Bender, Benjamin, Smets, Katrien, Züchner, Stephan, Reich, Selina, Schöls, Ludger, Schüle, Rebecca, De Jonghe, Peter, Baets, Jonathan, Synofzik, Matthis

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Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response 由 Beijer, Danique, Agnew, Thomas, Rack, Johannes Gregor Matthias, Prokhorova, Evgeniia, Deconinck, Tine, Ceulemans, Berten, Peric, Stojan, Milic Rasic, Vedrana, De Jonghe, Peter, Ahel, Ivan, Baets, Jonathan

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Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10 由 Verhoeven, Kristien, De Jonghe, Peter, Van de Putte, Tom, Nelis, Eva, Zwijsen, An, Verpoorten, Nathalie, De Vriendt, Els, Jacobs, An, Van Gerwen, Veerle, Francis, Annick, Ceuterick, Chantal, Huylebroeck, Danny, Timmerman, Vincent

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GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia 由 Eidhof, Ilse, Baets, Jonathan, Kamsteeg, Erik-Jan, Deconinck, Tine, van Ninhuijs, Lisa, Martin, Jean-Jacques, Schüle, Rebecca, Züchner, Stephan, De Jonghe, Peter, Schenck, Annette, van de Warrenburg, Bart P

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Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis 由 Hartmann, Corinna, von Spiczak, Sarah, Suls, Arvid, Weckhuysen, Sarah, Buyse, Gunnar, Vilain, Catheline, Van Bogaert, Patrick, De Jonghe, Peter, Cook, Joseph, Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Mefford, Heather C.

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Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene 由 Appenzeller, Silke, Schirmacher, Anja, Halfter, Hartmut, Bäumer, Sebastian, Pendziwiat, Manuela, Timmerman, Vincent, De Jonghe, Peter, Fekete, Klára, Stögbauer, Florian, Lüdemann, Peter, Hund, Margret, Quabius, Elgar Susanne, Ringelstein, E. Bernd, Kuhlenbäumer, Gregor

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Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35 由 Jordanova, Albena, Thomas, Florian P., Guergueltcheva, Velina, Tournev, Ivailo, Gondim, Francisco A. A., Ishpekova, Borjana, De Vriendt, Els, Jacobs, An, Litvinenko, Ivan, Ivanova, Neviana, Buzhov, Borjan, De Jonghe, Peter, Kremensky, Ivo, Timmerman, Vincent

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Mutant HSPB8 causes motor neuron-specific neurite degeneration 由 Irobi, Joy, Almeida-Souza, Leonardo, Asselbergh, Bob, De Winter, Vicky, Goethals, Sofie, Dierick, Ines, Krishnan, Jyothsna, Timmermans, Jean-Pierre, Robberecht, Wim, De Jonghe, Peter, Van Den Bosch, Ludo, Janssens, Sophie, Timmerman, Vincent

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First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy 由 Smets, Katrien, Duarri, Anna, Deconinck, Tine, Ceulemans, Berten, van de Warrenburg, Bart P., Züchner, Stephan, Gonzalez, Michael Anthony, Schüle, Rebecca, Synofzik, Matthis, Van der Aa, Nathalie, De Jonghe, Peter, Verbeek, Dineke S., Baets, Jonathan

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Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy 由 Verhoeven, Kristien, De Jonghe, Peter, Coen, Katrien, Verpoorten, Nathalie, Auer-Grumbach, Michaela, Kwon, Jennifer M., FitzPatrick, David, Schmedding, Eric, De Vriendt, Els, Jacobs, An, Van Gerwen, Veerle, Wagner, Klaus, Hartung, Hans-Peter, Timmerman, Vincent

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A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome 由 Singh, Nanda A., Pappas, Chris, Dahle, E. Jill, Claes, Lieve R. F., Pruess, Timothy H., De Jonghe, Peter, Thompson, Joel, Dixon, Missy, Gurnett, Christina, Peiffer, Andy, White, H. Steve, Filloux, Francis, Leppert, Mark F.

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