Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

Por Nelis, E, Timmerman, V, De Jonghe, P, Muylle, L, Martin, J J, Van Broeckhoven, C
Publicado em 1994

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.

Por De Jonghe, P, Timmerman, V, FitzPatrick, D, Spoelders, P, Martin, J J, Van Broeckhoven, C
Publicado em 1997

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.

Por Reiter, L T, Hastings, P J, Nelis, E, De Jonghe, P, Van Broeckhoven, C, Lupski, J R
Publicado em 1998

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

Por Nelis, E, De Jonghe, P, De Vriendt, E, Patel, P I, Martin, J J, Van Broeckhoven, C
Publicado em 1998

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

Por Raeymaekers, P, Timmerman, V, Nelis, E, Van Hul, W, De Jonghe, P, Martin, J J, Van Broeckhoven, C
Publicado em 1992

Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12–q13.3

Por Nelis, E, Berciano, J, Verpoorten, N, Coen, K, Dierick, I, Van Gerwen, V, Combarros, O, De Jonghe, P, Timmerman, V
Publicado em 2004

Novel locus on chromosome 12q22–q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures

Por Claes, L, Audenaert, D, Deprez, L, Van Paesschen, W, Depondt, C, Goossens, D, Del-Favero, J, Van Broeckhoven, C, De Jonghe, P
Publicado em 2004

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

Por Raeymaekers, P, Timmerman, V, De Jonghe, P, Swerts, L, Gheuens, J, Martin, J J, Muylle, L, De Winter, G, Vandenberghe, A, Van Broeckhoven, C
Publicado em 1989

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

Por Timmerman, V, Raeymaekers, P, De Jonghe, P, De Winter, G, Swerts, L, Jacobs, K, Gheuens, J, Martin, J J, Vandenberghe, A, Van Broeckhoven, C
Publicado em 1990

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus

Por Audenaert, D, Claes, L, Claeys, K, Deprez, L, Van Dyck, T, Goossens, D, Del-Favero, J, Van Paesschen, W, Van Broeckhoven, C, De Jonghe, P
Publicado em 2005

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

Por Timmerman, V, Rautenstrauss, B, Reiter, L T, Koeuth, T, Löfgren, A, Liehr, T, Nelis, E, Bathke, K D, De Jonghe, P, Grehl, H, Martin, J J, Lupski, J R, Van Broeckhoven, C
Publicado em 1997

De novo SCN1A mutations in migrating partial seizures of infancy

Por 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.
Publicado em 2011

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

Por Zimoń, M., Baets, J., Fabrizi, G.M., Jaakkola, E., Kabzińska, D., Pilch, J., Schindler, A.B., Cornblath, D.R., Fischbeck, K.H., Auer-Grumbach, M., Guelly, C., Huber, N., De Vriendt, E., Timmerman, V., Suter, U., Hausmanowa-Petrusewicz, I., Niemann, A., Kochański, A., De Jonghe, P., Jordanova, A.
Publicado em 2011

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

Por 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
Publicado no Mol Psychiatry (2016)