Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
Martin, Elodie, Schüle, Rebecca, Smets, Katrien, Rastetter, Agnès, Boukhris, Amir, Loureiro, José L., Gonzalez, Michael A., Mundwiller, Emeline, Deconinck, Tine, Wessner, Marc, Jornea, Ludmila, Oteyza, Andrés Caballero, Durr, Alexandra, Martin, Jean-Jacques, Schöls, Ludger, Mhiri, Chokri, Lamari, Foudil, Züchner, Stephan, De Jonghe, Peter, Kabashi, Edor, Brice, Alexis, Stevanin, Giovanni
Published in American journal of human genetics (07.02.2013)
Published in American journal of human genetics (07.02.2013)
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KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
Rivière, Jean-Baptiste, Ramalingam, Siriram, Lavastre, Valérie, Shekarabi, Masoud, Holbert, Sébastien, Lafontaine, Julie, Srour, Myriam, Merner, Nancy, Rochefort, Daniel, Hince, Pascale, Gaudet, Rébecca, Mes-Masson, Anne-Marie, Baets, Jonathan, Houlden, Henry, Brais, Bernard, Nicholson, Garth A., Van Esch, Hilde, Nafissi, Shahriar, De Jonghe, Peter, Reilly, Mary M., Timmerman, Vincent, Dion, Patrick A., Rouleau, Guy A.
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12
Montenegro, Gladys, Rebelo, Adriana P, Connell, James, Allison, Rachel, Babalini, Carla, D'Aloia, Michela, Montieri, Pasqua, Schüle, Rebecca, Ishiura, Hiroyuki, Price, Justin, Strickland, Alleene, Gonzalez, Michael A, Baumbach-Reardon, Lisa, Deconinck, Tine, Huang, Jia, Bernardi, Giorgio, Vance, Jeffery M, Rogers, Mark T, Tsuji, Shoji, De Jonghe, Peter, Pericak-Vance, Margaret A, Schöls, Ludger, Orlacchio, Antonio, Reid, Evan, Züchner, Stephan
Published in The Journal of clinical investigation (01.02.2012)
Published in The Journal of clinical investigation (01.02.2012)
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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
Vance, Jeffery M, Züchner, Stephan, Mersiyanova, Irina V, Muglia, Maria, Bissar-Tadmouri, Nisrine, Rochelle, Julie, Dadali, Elena L, Zappia, Mario, Nelis, Eva, Patitucci, Alessandra, Senderek, Jan, Parman, Yesim, Evgrafov, Oleg, Jonghe, Peter De, Takahashi, Yuji, Tsuji, Shoij, Pericak-Vance, Margaret A, Quattrone, Aldo, Battologlu, Esra, Polyakov, Alexander V, Timmerman, Vincent, Schröder, J Michael
Published in Nature genetics (01.05.2004)
Published in Nature genetics (01.05.2004)
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DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)
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.
Published in American journal of human genetics (01.06.2004)
Published in American journal of human genetics (01.06.2004)
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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies
Zimoń, Magdalena, Baets, Jonathan, Auer-Grumbach, Michaela, Berciano, José, Garcia, Antonio, Lopez-Laso, Eduardo, Merlini, Luciano, Hilton-Jones, David, McEntagart, Meriel, Crosby, Andrew H., Barisic, Nina, Boltshauser, Eugen, Shaw, Christopher E., Landouré, Guida, Ludlow, Christy L., Gaudet, Rachelle, Houlden, Henry, Reilly, Mary M., Fischbeck, Kenneth H., Sumner, Charlotte J., Timmerman, Vincent, Jordanova, Albena, Jonghe, Peter De
Published in Brain (London, England : 1878) (01.06.2010)
Published in Brain (London, England : 1878) (01.06.2010)
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Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
Züchner, Stephan, Noureddine, Maher, Kennerson, Marina, Verhoeven, Kristien, Claeys, Kristl, Jonghe, Peter De, Merory, John, Oliveira, Sofia A, Speer, Marcy C, Stenger, Judith E, Walizada, Gina, Zhu, Danqing, Pericak-Vance, Margaret A, Nicholson, Garth, Timmerman, Vincent, Vance, Jeffery M
Published in Nature genetics (01.03.2005)
Published in Nature genetics (01.03.2005)
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Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy
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
Published in American journal of human genetics (01.03.2003)
Published in American journal of human genetics (01.03.2003)
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Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4
Stendel, Claudia, Roos, Andreas, Deconinck, Tine, Pereira, Jorge, Castagner, François, Niemann, Axel, Kirschner, Janbernd, Korinthenberg, Rudolf, Ketelsen, Uwe-Peter, Battaloglu, Esra, Parman, Yesim, Nicholson, Garth, Ouvrier, Robert, Seeger, Jürgen, De Jonghe, Peter, Weis, Joachim, Krüttgen, Alexander, Rudnik-Schöneborn, Sabine, Bergmann, Carsten, Suter, Ueli, Zerres, Klaus, Timmerman, Vincent, Relvas, João B., Senderek, Jan
Published in American journal of human genetics (01.07.2007)
Published in American journal of human genetics (01.07.2007)
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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
Steward, Charles A., Roovers, Jolien, Suner, Marie-Marthe, Gonzalez, Jose M., Uszczynska-Ratajczak, Barbara, Pervouchine, Dmitri, Fitzgerald, Stephen, Viola, Margarida, Stamberger, Hannah, Hamdan, Fadi F., Ceulemans, Berten, Leroy, Patricia, Nava, Caroline, Lepine, Anne, Tapanari, Electra, Keiller, Don, Abbs, Stephen, Sanchis-Juan, Alba, Grozeva, Detelina, Rogers, Anthony S., Diekhans, Mark, Guigó, Roderic, Petryszak, Robert, Minassian, Berge A., Cavalleri, Gianpiero, Vitsios, Dimitrios, Petrovski, Slavé, Harrow, Jennifer, Flicek, Paul, Lucy Raymond, F., Lench, Nicholas J., Jonghe, Peter De, Mudge, Jonathan M., Weckhuysen, Sarah, Sisodiya, Sanjay M., Frankish, Adam
Published in Npj genomic medicine (02.12.2019)
Published in Npj genomic medicine (02.12.2019)
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Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing
Goossens, Dirk, Moens, Lotte N, Nelis, Eva, Lenaerts, An-Sofie, Glassee, Wim, Kalbe, Andreas, Frey, Bruno, Kopal, Guido, Jonghe, Peter De, Rijk, Peter De, Del-Favero, Jurgen
Published in Human mutation (01.03.2009)
Published in Human mutation (01.03.2009)
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Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients
Irobi, Joy, Holmgren, Anne, Winter, Vicky De, Asselbergh, Bob, Gettemans, Jan, Adriaensen, Dirk, Groote, Chantal Ceuterick-de, Coster, Rudy Van, Jonghe, Peter De, Timmerman, Vincent
Published in Neuromuscular disorders : NMD (01.08.2012)
Published in Neuromuscular disorders : NMD (01.08.2012)
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The genetics of Dravet syndrome
Marini, Carla, Scheffer, Ingrid E., Nabbout, Rima, Suls, Arvid, De Jonghe, Peter, Zara, Federico, Guerrini, Renzo
Published in Epilepsia (Copenhagen) (01.04.2011)
Published in Epilepsia (Copenhagen) (01.04.2011)
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The therapeutic potential of RNA regulation in neurological disorders
Roovers, Jolien, De Jonghe, Peter, Weckhuysen, Sarah
Published in Expert opinion on therapeutic targets (02.12.2018)
Published in Expert opinion on therapeutic targets (02.12.2018)
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KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
Weckhuysen, Sarah, Mandelstam, Simone, Suls, Arvid, Audenaert, Dominique, Deconinck, Tine, Claes, Lieve R.F., Deprez, Liesbet, Smets, Katrien, Hristova, Dimitrina, Yordanova, Iglika, Jordanova, Albena, Ceulemans, Berten, Jansen, An, Hasaerts, Danièle, Roelens, Filip, Lagae, Lieven, Yendle, Simone, Stanley, Thorsten, Heron, Sarah E., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E., Peter de Jonghe
Published in Annals of neurology (01.01.2012)
Published in Annals of neurology (01.01.2012)
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Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
Hardies, Katia, Cai, Yiying, Jardel, Claude, Jansen, Anna C, Cao, Mian, May, Patrick, Djémié, Tania, Hachon Le Camus, Caroline, Keymolen, Kathelijn, Deconinck, Tine, Bhambhani, Vikas, Long, Catherine, Sajan, Samin A, Helbig, Katherine L, Suls, Arvid, Balling, Rudi, Helbig, Ingo, De Jonghe, Peter, Depienne, Christel, De Camilli, Pietro, Weckhuysen, Sarah
Published in Brain (London, England : 1878) (01.09.2016)
Published in Brain (London, England : 1878) (01.09.2016)
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Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
Ehnert, Sabrina, Hauser, Stefan, Hengel, Holger, Höflinger, Philip, Schüle, Rebecca, Lindig, Tobias, Baets, Jonathan, Deconinck, Tine, de Jonghe, Peter, Histing, Tina, Nüssler, Andreas K., Schöls, Ludger, Rattay, Tim W.
Published in Scientific reports (27.03.2024)
Published in Scientific reports (27.03.2024)
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A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
Tsai, Pei-Chien, Soong, Bing-Wen, Mademan, Inès, Huang, Yen-Hua, Liu, Chia-Rung, Hsiao, Cheng-Tsung, Wu, Hung-Ta, Liu, Tze-Tze, Liu, Yo-Tsen, Tseng, Yen-Ting, Lin, Kon-Ping, Yang, Ueng-Cheng, Chung, Ki Wha, Choi, Byung-Ok, Nicholson, Garth A, Kennerson, Marina L, Chan, Chih-Chiang, De Jonghe, Peter, Cheng, Tzu-Hao, Liao, Yi-Chu, Züchner, Stephan, Baets, Jonathan, Lee, Yi-Chung
Published in Brain (London, England : 1878) (01.05.2017)
Published in Brain (London, England : 1878) (01.05.2017)
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Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1
Suls, Arvid, Mullen, Saul A., Weber, Yvonne G., Verhaert, Kristien, Ceulemans, Berten, Guerrini, Renzo, Wuttke, Thomas V., Salvo-Vargas, Alberto, Deprez, Liesbet, Claes, Lieve R. F., Jordanova, Albena, Berkovic, Samuel F., Lerche, Holger, De Jonghe, Peter, Scheffer, Ingrid E.
Published in Annals of neurology (01.09.2009)
Published in Annals of neurology (01.09.2009)
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