Lessons learned from gene identification studies in Mendelian epilepsy disorders

Por Hardies, Katia, Weckhuysen, Sarah, De Jonghe, Peter, Suls, Arvid
Publicado no Eur J Hum Genet (2016)

Treatment for Charcot‐Marie‐Tooth disease

Por Young, Peter, De Jonghe, Peter, Stögbauer, Florian, Butterfass‐Bahloul, Trude
Publicado no Cochrane Database Syst Rev (2008)

Localization of the Gene for the Intermediate Form of Charcot-Marie-Tooth to Chromosome 10q24.1-q25.1

Por Verhoeven, Kristien, Villanova, Marcello, Rossi, Alessandro, Malandrini, Alessandro, De Jonghe, Peter, Timmerman, Vincent
Publicado em 2001

Ascorbic acid for the treatment of Charcot‐Marie‐Tooth disease

Por Gess, Burkhard, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Pareyson, Davide, Young, Peter
Publicado no Cochrane Database Syst Rev (2015)

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

Por Claes, Lieve, Del-Favero, Jurgen, Ceulemans, Berten, Lagae, Lieven, Van Broeckhoven, Christine, De Jonghe, Peter
Publicado em 2001

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

Por Zhao, Hui, Race, Valérie, Matthijs, Gert, De Jonghe, Peter, Robberecht, Wim, Lambrechts, Diether, Van Damme, Philip
Publicado em 2014

novoSNP, a novel computational tool for sequence variation discovery

Por Weckx, Stefan, Del-Favero, Jurgen, Rademakers, Rosa, Claes, Lieve, Cruts, Marc, De Jonghe, Peter, Van Broeckhoven, Christine, De Rijk, Peter
Publicado em 2005

Schizophrenia-Associated MIR204 Regulates Noncoding RNAs and Affects Neurotransmitter and Ion Channel Gene Sets

Por Cammaerts, Sophia, Strazisar, Mojca, Smets, Bart, Weckhuysen, Sarah, Nordin, Annelie, De Jonghe, Peter, Adolfsson, Rolf, De Rijk, Peter, Del Favero, Jurgen
Publicado no PLoS One (2015)

Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias

Por Bis, Dana M., Schüle, Rebecca, Reichbauer, Jennifer, Synofzik, Matthis, Rattay, Tim W., Soehn, Anne, de Jonghe, Peter, Schöls, Ludger, Züchner, Stephan
Publicado no Mol Genet Genomic Med (2017)

A novel AARS mutation in a family with dominant myeloneuropathy

Por Motley, William W., Griffin, Laurie B., Mademan, Inès, Baets, Jonathan, De Vriendt, Els, De Jonghe, Peter, Antonellis, Anthony, Jordanova, Albena, Scherer, Steven S.
Publicado no Neurology (2015)

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Por Hayer, Stefanie Nicole, Deconinck, Tine, Bender, Benjamin, Smets, Katrien, Züchner, Stephan, Reich, Selina, Schöls, Ludger, Schüle, Rebecca, De Jonghe, Peter, Baets, Jonathan, Synofzik, Matthis
Publicado no Orphanet J Rare Dis (2017)

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

Por 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
Publicado em 2003

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

Por 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.
Publicado no Epilepsia (2015)

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

Por 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
Publicado em 2010

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

Por 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
Publicado em 2003

Mutant HSPB8 causes motor neuron-specific neurite degeneration

Por 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
Publicado em 2010

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

Por 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
Publicado no BMC Med Genet (2015)

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

Por 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
Publicado em 2003

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

Por 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.
Publicado em 2009

Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation

Por Rotthier, Annelies, Baets, Jonathan, Vriendt, Els De, Jacobs, An, Auer-Grumbach, Michaela, Lévy, Nicolas, Bonello-Palot, Nathalie, Kilic, Sara Sebnem, Weis, Joachim, Nascimento, Andrés, Swinkels, Marielle, Kruyt, Moyo C., Jordanova, Albena, De Jonghe, Peter, Timmerman, Vincent
Publicado em 2009