Progranulin genetic variability contributes to amyotrophic lateral sclerosis von SLEEGERS, K, BROUWERS, N, CRUTS, M, SCHYMKOWITZ, J, DE JONGHE, P, ROUSSEAU, F, VAN DEN BERG, L. H, ROBBERECHT, W, VAN BROECKHOVEN, C, MAURER-STROH, S, VAN ES, M. A, VAN DAMME, P, VAN VUGHT, P. W. J, VAN DER ZEE, J, SERNEELS, S, DE POORER, T, VAN DEN BROECK, M

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Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation von Barisic, N., Claeys, K. G., Sirotković‐Skerlev, M., Löfgren, A., Nelis, E., De Jonghe, P., Timmerman, V.

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The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter von Gijselinck, I, Van Mossevelde, S, van der Zee, J, Sieben, A, Engelborghs, S, De Bleecker, J, Ivanoiu, A, Deryck, O, Edbauer, D, Zhang, M, Heeman, B, Bäumer, V, Van den Broeck, M, Mattheijssens, M, Peeters, K, Rogaeva, E, De Jonghe, P, Cras, P, Martin, J-J, de Deyn, P P, Cruts, M, Van Broeckhoven, C

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Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C von Dermaut, B, Seneca, S, Dom, L, Smets, K, Ceulemans, L, Smet, J, De Paepe, B, Tousseyn, S, Weckhuysen, S, Gewillig, M, Pals, P, Parizel, P, De Bleecker, J L, Boon, P, De Meirleir, L, De Jonghe, P, Van Coster, R, Van Paesschen, W, Santens, P

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Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency von Mullen, S A, Suls, A, De Jonghe, P, Berkovic, S F, Scheffer, I E

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Self-Injurious Behaviour in nursing home residents with dementia von de Jonghe-Rouleau, Adrienne P., Pot, Anne Margriet, de Jonghe, Jos F. M.

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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 von Suls, Arvid, Dedeken, Peter, Goffin, Karolien, Van Esch, Hilde, Dupont, Patrick, Cassiman, David, Kempfle, Judith, Wuttke, Thomas V., Weber, Yvonne, Lerche, Holger, Afawi, Zaid, Vandenberghe, Wim, Korczyn, Amos D., Berkovic, Samuel F., Ekstein, Dana, Kivity, Sara, Ryvlin, Philippe, Claes, Lieve R. F., Deprez, Liesbet, Maljevic, Snezana, Vargas, Alberto, Van Dyck, Tine, Goossens, Dirk, Del-Favero, Jurgen, Van Laere, Koen, De Jonghe, Peter, Van Paesschen, Wim

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136th ENMC International Workshop: Charcot–Marie–Tooth Disease Type 1A (CMT1A)8–10 April 2005, Naarden, The Netherlands von Reilly, M.M., de Jonghe, P., Pareyson, D.

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Mutations in SACS cause atypical and late-onset forms of ARSACS von BAETS, J, DECONINCK, T, ROBBERECHT, W, DE MEIRLEIR, L, MICHIELSENS, B, DEL-FAVERO, J, JORDANOVA, A, DE JONGHE, P, SMETS, K, GOOSSENS, D, VAN DEN BERGH, P, DAHAN, K, SCHMEDDING, E, SANTENS, P, MILIC RASIC, V, VAN DAMME, P

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De novo KCNQ2 mutations in patients with benign neonatal seizures von Claes, L R F, Ceulemans, B, Audenaert, D, Deprez, L, Jansen, A, Hasaerts, D, Weckx, S, Claeys, K G, Del-Favero, J, Van Broeckhoven, C, De Jonghe, P

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Treatment for Charcot‐Marie‐Tooth disease von Young, Peter, De Jonghe, Peter, Stögbauer, Florian, Butterfass‐Bahloul, Trude, Young, Peter

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De novo SCN1A mutations in migrating partial seizures of infancy von Carranza Rojo, D, Hamiwka, L, McMahon, J M, Dibbens, L M, Arsov, T, Suls, A, Stödberg, T, Kelley, K, Wirrell, E, Appleton, B, Mackay, M, Freeman, J L, Yendle, S C, Berkovic, S F, Bienvenu, T, De Jonghe, P, Thorburn, D R, Mulley, J C, Mefford, H C, Scheffer, I E

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POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement von VAN GOETHEM, G, LUOMA, P, SUOMALAINEN, A, UDD, B, VAN BROECKHOVEN, C, RANTAMÄKI, M, AL MEMAR, A, KAAKKOLA, S, HACKMAN, P, KRAHE, R, LÖFGREN, A, MARTIN, J. J, DE JONGHE, P

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A novel GABRG2 mutation associated with febrile seizures von AUDENAERT, D, SCHWARTZ, E, DE JONGHE, P, CLAEYS, K. G, CLAES, L, DEPREZ, L, SUIS, A, VAN DYCK, T, LAGAE, L, VAN BROECKHOVEN, C, MACDONALD, R. L

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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes von ZIMON, M, BAETS, J, GUELLY, C, HUBER, N, DE VRIENDT, E, TIMMERMAN, V, SUTER, U, PETRUSEWICZ, I. Hausmanowa, NIEMANN, A, KOCHANSKI, A, DE JONGHE, P, JORDANOVA, A, FABRIZI, G. M, JAAKKOLA, E, KABZINSKA, D, PILCH, J, SCHINDLER, A. B, CORNBLATH, D. R, FISCHBECK, K. H, AUER-GRUMBACH, M

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Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders von van Harssel, J. J. T., Weckhuysen, S., van Kempen, M. J. A., Hardies, K., Verbeek, N. E., de Kovel, C. G. F., Gunning, W. B., van Daalen, E., de Jonge, M. V., Jansen, A. C., Vermeulen, R. J., Arts, W. F. M., Verhelst, H., Fogarasi, A., de Rijk-van Andel, J. F., Kelemen, A., Lindhout, D., De Jonghe, P., Koeleman, B. P. C., Suls, A., Brilstra, E. H.

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PRRT2 mutations: exploring the phenotypical boundaries von Djémié, Tania, Weckhuysen, Sarah, Holmgren, Philip, Hardies, Katia, Van Dyck, Tine, Hendrickx, Rik, Schoonjans, An-Sofie, Van Paesschen, Wim, Jansen, Anna C, De Meirleir, Linda, Selim, Laila Abdel Moteleb, Girgis, Marian Y, Buyse, Gunnar, Lagae, Lieven, Smets, Katrien, Smouts, Iris, Claeys, Kristl G, Van den Bergh, Vic, Grisar, Thierry, Blatt, Ilan, Shorer, Zamir, Roelens, Filip, Afawi, Zaid, Helbig, Ingo, Ceulemans, Berten, De Jonghe, Peter, Suls, Arvid

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Molecular genetics of distal hereditary motor neuropathies von Irobi, Joy, De Jonghe, Peter, Timmerman, Vincent

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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy von Claeys, Kristl G., Züchner, Stephan, Kennerson, Marina, Berciano, José, Garcia, Antonio, Verhoeven, Kristien, Storey, Elsdon, Merory, John R., Bienfait, Henriette M. E., Lammens, Martin, Nelis, Eva, Baets, Jonathan, De Vriendt, Els, Berneman, Zwi N., De Veuster, Ilse, Vance, Jefferey M., Nicholson, Garth, Timmerman, Vincent, De Jonghe, Peter

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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency von Guergueltcheva, V, Peeters, K, Baets, J, Ceuterick-de Groote, C, Martin, J J, Suls, A, De Vriendt, E, Mihaylova, V, Chamova, T, Almeida-Souza, L, Ydens, E, Tzekov, C, Hadjidekov, G, Gospodinova, M, Storm, K, Reyniers, E, Bichev, S, van der Ven, P F M, Fürst, D O, Mitev, V, Lochmüller, H, Timmerman, V, Tournev, I, De Jonghe, P, Jordanova, A

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