Výsledky vyhledávání - de Jonghe, Peter

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response Autor 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

Získat plný text Získat plný text Získat plný text

Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10 Autor 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

Získat plný text Získat plný text

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia Autor 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

Získat plný text Získat plný text Získat plný text

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis Autor 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.

Získat plný text Získat plný text Získat plný text

Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene Autor 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

Získat plný text Získat plný text Získat plný text

Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35 Autor 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

Získat plný text Získat plný text

Mutant HSPB8 causes motor neuron-specific neurite degeneration Autor 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

Získat plný text Získat plný text Získat plný text

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy Autor 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

Získat plný text Získat plný text Získat plný text

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy Autor 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

Získat plný text Získat plný text

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome Autor 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.

Získat plný text Získat plný text Získat plný text