Lessons learned from gene identification studies in Mendelian epilepsy disorders

מאת Hardies, Katia, Weckhuysen, Sarah, De Jonghe, Peter, Suls, Arvid
הוצא לאור ב Eur J Hum Genet (2016)

Treatment for Charcot‐Marie‐Tooth disease

מאת Young, Peter, De Jonghe, Peter, Stögbauer, Florian, Butterfass‐Bahloul, Trude
הוצא לאור ב Cochrane Database Syst Rev (2008)

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

מאת Verhoeven, Kristien, Villanova, Marcello, Rossi, Alessandro, Malandrini, Alessandro, De Jonghe, Peter, Timmerman, Vincent
יצא לאור 2001

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

מאת Gess, Burkhard, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Pareyson, Davide, Young, Peter
הוצא לאור ב Cochrane Database Syst Rev (2015)

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

מאת Claes, Lieve, Del-Favero, Jurgen, Ceulemans, Berten, Lagae, Lieven, Van Broeckhoven, Christine, De Jonghe, Peter
יצא לאור 2001

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

מאת Zhao, Hui, Race, Valérie, Matthijs, Gert, De Jonghe, Peter, Robberecht, Wim, Lambrechts, Diether, Van Damme, Philip
יצא לאור 2014

novoSNP, a novel computational tool for sequence variation discovery

מאת Weckx, Stefan, Del-Favero, Jurgen, Rademakers, Rosa, Claes, Lieve, Cruts, Marc, De Jonghe, Peter, Van Broeckhoven, Christine, De Rijk, Peter
יצא לאור 2005

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

מאת Cammaerts, Sophia, Strazisar, Mojca, Smets, Bart, Weckhuysen, Sarah, Nordin, Annelie, De Jonghe, Peter, Adolfsson, Rolf, De Rijk, Peter, Del Favero, Jurgen
הוצא לאור ב PLoS One (2015)

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

מאת Bis, Dana M., Schüle, Rebecca, Reichbauer, Jennifer, Synofzik, Matthis, Rattay, Tim W., Soehn, Anne, de Jonghe, Peter, Schöls, Ludger, Züchner, Stephan
הוצא לאור ב Mol Genet Genomic Med (2017)

A novel AARS mutation in a family with dominant myeloneuropathy

מאת Motley, William W., Griffin, Laurie B., Mademan, Inès, Baets, Jonathan, De Vriendt, Els, De Jonghe, Peter, Antonellis, Anthony, Jordanova, Albena, Scherer, Steven S.
הוצא לאור ב Neurology (2015)

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

מאת Hayer, Stefanie Nicole, Deconinck, Tine, Bender, Benjamin, Smets, Katrien, Züchner, Stephan, Reich, Selina, Schöls, Ludger, Schüle, Rebecca, De Jonghe, Peter, Baets, Jonathan, Synofzik, Matthis
הוצא לאור ב Orphanet J Rare Dis (2017)

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

מאת 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
יצא לאור 2003

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

מאת 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
הוצא לאור ב Brain (2018)

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

מאת 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.
הוצא לאור ב Epilepsia (2015)

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

מאת 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
יצא לאור 2010

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

מאת 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
יצא לאור 2003

Mutant HSPB8 causes motor neuron-specific neurite degeneration

מאת 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
יצא לאור 2010

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

מאת 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
הוצא לאור ב BMC Med Genet (2015)

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

מאת 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
יצא לאור 2003

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

מאת 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.
יצא לאור 2009