Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects von Marini, Carla, Hardies, Katia, Pisano, Tiziana, May, Patrick, Weckhuysen, Sarah, Cellini, Elena, Suls, Arvid, Mei, Davide, Balling, Rudi, Jonghe, Peter D., Helbig, Ingo, Garozzo, Domenico, Guerrini, Renzo

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Molecular genetics of Dravet syndrome von DE JONGHE, PETER

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The genetics of Dravet syndrome: Severe Myoclonic Epilepsy - Dravet Syndrome: Thirty Years Later von MARINI, Carla, SCHEFFER, Ingrid E, NABBOUT, Rima, SULS, Arvid, DE JONGHE, Peter, ZARA, Federico, GUERRINI, Renzo

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Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1 A or HNPP: Rare CNVs as a Cause for Missing Heritability von FENG ZHANG, SEEMAN, Pavel, KRAUSE, Klaus-Henning, KHAJAVI, Mehrdad, POSADKA, Jan, VANDENBERGHE, Antoon, PALAU, Francesc, VAN MALDERGEM, Lionel, BAAS, Frank, TIMMERMAN, Vincent, LUPSKI, James R, PENGFEI LIU, WETERMAN, Marian A. J, GONZAGA-JAUREGUI, Claudia, TOWNE, Charles F, DEV BATISH, Sat, DE VRIENDT, Els, DE JONGHE, Peter, RAUTENSTRAUSS, Bernd

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Early-Onset Absence Epilepsy Caused by Mutations in the Glucose Transporter GLUT 1 von SULS, Arvid, MULLEN, Saul A, JORDANOVA, Albena, BERKOVIC, Samuel F, LERCHE, Holger, DE JONGHE, Peter, SCHEFFER, Ingrid E, WEBER, Yvonne G, VERHAERT, Kristien, CEULEMANS, Berten, GUERRINI, Renzo, WUTTKE, Thomas V, SALVO-VARGAS, Alberto, DEPREZ, Liesbet, CLAES, Lieve R. F

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A duplication in Iq21.3 in a family with early onset and childhood absence epilepsy von MUHLE, Hiltrud, STEINICH, Ines, MARINI, Carla, GUERRINI, Renzo, SCHEFFER, Ingrid E, BERKOVIC, Samuel F, STEPHANI, Ulrich, SIEBERT, Reiner, SANDER, Thomas, HELBIG, Ingo, TÖNNIES, Holger, VON SPICZAK, Sarah, FRANKE, Andre, WEBER, Yvonne, LERCHE, Holger, WITTIG, Michael, HEIDEMANN, Simone, SULS, Arvid, DE JONGHE, Peter

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Mutation scanning the GJB1 gene with high-resolu tion melting analysis : Implications for mutation scan ning of genes for charcot-marie-tooth disease, marina von KENNERSON, Marina L, WARBURTON, Trent, NELIS, Eva, BREWER, Megan, POLLY, Patsie, DE JONGHE, Peter, TIMMERMAN, Vincent, NICHOLSON, Garth A

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Epilepsy as part of the phenotype associated with ATPIA2 mutations von DEPREZ, Liesbet, WECKHUYSEN, Sarah, VAN PAESSCHEN, Wim, DE JONGHE, Peter, PEETERS, Katelijne, DECONINCK, Tine, CLAEYS, Kristl G, CLAES, Lieve R. F, SUIS, Arvid, VAN DYCK, Tine, PALMINI, André, MATTHIJS, Gert

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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2AI, encoding the glucose transporter GLUTI von SULS, Arvid, DEDEKEN, Peter, AFAWI, Zaid, VANDENBERGHE, Wim, KORCZYN, Amos D, BERKOVIC, Samuel F, EKSTEIN, Dana, KIVITY, Sara, RYVLIN, Philippe, CLAES, Lieve R. F, DEPREZ, Liesbet, MALJEVIC, Snezana, GOFFIN, Karolien, VARGAS, Alberto, VAN DYCK, Tine, GOOSSENS, Dirk, DEL-FAVERO, Jurgen, VAN LAERE, Koen, DE JONGHE, Peter, VAN PAESSCHEN, Wim, VAN ESCH, Hilde, DUPONT, Patrick, CASSIMAN, David, KEMPFLE, Judith, WUTTKE, Thomas V, WEBER, Yvonne, LERCHE, Holger

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REEPI mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31 von BEETZ, Christian, SCHÜLE, Rebecca, NYGREN, Anders O. H, BAETS, Jonathan, SMETS, Katrien, CEULEMANS, Berten, DAN, Bernard, NAGAN, Narasimhan, KASSUBEK, Jan, KLIMPE, Sven, KLOPSTOCK, Thomas, STOLZE, Henning, DECONINCK, Tine, SMEETS, Hubert J. M, SCHRANDER-STUMPEL, Constance T. R. M, HUTCHINSON, Michael, VAN DE WARRENBURG, Bart P, BRAASTAD, Corey, DEUFEL, Thomas, PERICAK-VANCE, Margaret, SCHÖLS, Ludger, DE JONGHE, Peter, ZÜCHNER, Stephan, TRAN-VIET, Khanh-Nhat, HUI ZHU, KREMER, Berry P. H, FRINTS, Suzanna G. M, VAN ZELST-STAMS, Wendy A. G, BYRNE, Paula, OTTO, Susanne

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L239F founder mutation in GDAPI is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype von KABZINSKA, Dagmara, STRUGALSKA-CYNOWSKA, Halina, TIMMERMAN, Vincent, GUERGUELTCHEVA, Velina, TOURNEV, Ivailo, SARAFOV, Stayko, DE JONGHE, Peter, JORDANOVA, Albena, HAUSMANOWA-PETRUSEWICZ, Irena, KOCHANSKI, Andrzej, KOSTERA-PRUSZCZYK, Anna, RYNIEWICZ, Barbara, POSMYK, Renata, MIDRO, Alina, SEEMAN, Pavel, BARANKOVA, Lucia, ZIMON, Magdalena, BAETS, Jonathan

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CasprI/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies von VENKEN, Koen, MEULEMAN, Jan, IROBI, Joy, CEUTERICK, Chantal, MARTINI, Rudolf, DE JONGHE, Peter, TIMMERMAN, Vincent

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Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1 p34-p35 von JORDANOVA, Albena, THOMAS, Florian P, BUZHOV, Borjan, DE JONGHE, Peter, KREMENSKY, Ivo, TIMMERMAN, Vincent, GUERGUELTCHEVA, Velina, TOURNEV, Ivailo, GONDIM, Francisco A. A, ISHPEKOVA, Borjana, DE VRIENDT, Els, JACOBS, An, LITVINENKO, Ivan, IVANOVA, Neviana

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A von ZÜCHNER, Stephan, MERSIYANOVA, Irina V, PARMAN, Yesim, EVGRAFOV, Oleg, DE JONGHE, Peter, TAKAHASHI, Yuji, TSUJI, Shoij, PERICAK-VANCE, Margaret A, QUATTRONE, Aldo, BATTOLOGLU, Esra, POLYAKOV, Alexander V, TIMMERMAN, Vincent, MUGLIA, Maria, SCHRÖDER, J. Michael, VANCE, Jeffery M, BISSAR-TADMOURI, Nisrine, ROCHELLE, Julie, DADALI, Elena L, ZAPPIA, Mario, NELIS, Eva, PATITUCCI, Alessandra, SENDEREK, Jan

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DIAGNOSTIC TESTS FOR THE DETECTION OF INHERITED PERIPHERAL NEUROPATHIES von DE JONGHE PETER, BAETS JONATHAN, JORDANOVA ALBENA, ZIMON MAGDALENA

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Diagnostic tests for the detection of peripheral neuropathy von VERHOEVEN KRISTIEN, BROECKHOVEN CHRISTINE V, JONGHE PETER D, TIMMERMAN VINCENT

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DIAGNOSTIC TESTS FOR THE DETECTION OF INHERITED PERIPHERAL NEUROPATHIES von DE JONGHE, PETER, JORDANOVA, ALBENA, BAETS, JONATHAN, ZIMON, MAGDALENA

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Diagnostic tests for the detection of motor neuropathy von DE JONGHE PETER, BROECKHOVEN CHRISTINE V, TIMMERMAN VINCENT, IROBI JOY

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DIAGNOSTIC TESTS FOR THE DETECTION OF MOTOR NEUROPATHY von DE JONGHE, PETER, VAN BROECKHOVEN, CHRISTINE, IROBI, JOY, TIMMERMAN, VINCENT

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DIAGNOSIS OF DISTAL HEREDITARY MOTOR NEUROPATHY TYPE II BY DETECTION OF HSP22 GENE POLYMORPHISMS von DE JONGHE, PETER, VAN BROECKHOVEN, CHRISTINE, IROBI, JOY, TIMMERMAN, VINCENT

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