Search Results - "DE JONGHE, Peter"

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia by 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

“…Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP)…”
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KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2 by 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.

“…Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare autosomal-recessive disorder characterized by peripheral nerve degeneration resulting in…”
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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 by 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

“…Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative conditions. They are characterized by progressive spastic…”
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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A by 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

“…We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type…”
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De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy by Claes, Lieve, Del-Favero, Jurgen, Ceulemans, Berten, Lagae, Lieven, Van Broeckhoven, Christine, De Jonghe, Peter

“…Severe myoclonic epilepsy of infancy (SMEI) is a rare disorder that occurs in isolated patients. The disease is characterized by generalized tonic, clonic, and…”
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DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4) by 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.

“…Juvenile amyotrophic lateral sclerosis (ALS4) is a rare autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS) characterized by distal muscle…”
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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies by 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

“…Hereditary neuropathies form a heterogeneous group of disorders for which over 40 causal genes have been identified to date. Recently, dominant mutations in…”
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Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease by 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

“…Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of peripheral neuropathies. Different chromosomal loci have been linked…”
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Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy by 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

“…Charcot-Marie-Tooth type 2B (CMT2B) is clinically characterized by marked distal muscle weakness and wasting and a high frequency of foot ulcers, infections,…”
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Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4 by 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

“…GTPases of the Rho subfamily are widely involved in the myelination of the vertebrate nervous system. Rho GTPase activity is temporally and spatially regulated…”
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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A by 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

“…The developmental and epileptic encephalopathies (DEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing…”
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Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing by 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

“…We evaluated multiplex PCR amplification as a front-end for high-throughput sequencing, to widen the applicability of massive parallel sequencers for the…”
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Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients by 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

“…Abstract Missense mutations in the small heat shock protein HSPB8 cause distal hereditary motor neuropathy (dHMN) and axonal Charcot-Marie-Tooth disease…”
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The genetics of Dravet syndrome by Marini, Carla, Scheffer, Ingrid E., Nabbout, Rima, Suls, Arvid, De Jonghe, Peter, Zara, Federico, Guerrini, Renzo

“…Summary Dravet syndrome (DS), otherwise known as severe myoclonic epilepsy of infancy (SMEI), is an epileptic encephalopathy presenting in the first year of…”
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KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy by 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

“…Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizures (BFNS). A few reports on patients with a KCNQ2 mutation…”
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Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline by 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

“…SYNJ1 encodes a polyphosphoinositide phosphatase, synaptojanin 1, which contains two consecutive phosphatase domains and plays a prominent role in synaptic…”
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Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis by 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.

“…Hereditary spastic paraplegia type 5 (SPG5) is an autosomal recessively inherited movement disorder characterized by progressive spastic gait disturbance and…”
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A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy by 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

“…Distal hereditary motor neuropathy is a heterogeneous group of inherited neuropathies characterized by distal limb muscle weakness and atrophy. Although at…”
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Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1 by 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.

“…Absence epilepsies of childhood are heterogeneous with most cases following complex inheritance. Those cases with onset before 4 years of age represent a…”
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Mutations in FAM134B , encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy by Gal, Andreas, Huebner, Antje K, Baets, Jonathan, De Jonghe, Peter, Soehendra, Désirée, Nürnberg, Gudrun, Rotthier, Annelies, Senderek, Jan, Kaether, Christoph, Hübner, Christian A, Hennings, J Christopher, Timmerman, Vincent, Farrell, Sandra A, Pamminger, Torsten, Kurth, Ingo, Topaloglu, Haluk, Nürnberg, Peter

“…Hereditary sensory and autonomic neuropathy type II (HSAN II) leads to severe mutilations because of impaired nociception and autonomic dysfunction. Here we…”
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