Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene

Por Bahr, M, Andres, F, Timmerman, V, Nelis, M, Van Broeckhoven, C, Dichgans, J
Publicado em 1999

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

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

Detection of tandem duplications and implications for linkage analysis.

Por Matise, T. C., Chakravarti, A., Patel, P. I., Lupski, J. R., Nelis, E., Timmerman, V., Van Broeckhoven, C., Weeks, D. E.
Publicado em 1994

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

Por Chapon, F, Diraison, P, Lechevalier, B, Chazot, G, Viader, F, Bonnebouche, C, Vandenberghe, A, Timmerman, V, Van Broeckhoven, C, Vandenberghe, A
Publicado em 1996

Autosomal dominant burning feet syndrome

Por Stogbauer, F., Young, P., Kuhlenbaumer, G., Kiefer, R., Timmerman, V., Ringelstein, E, Wang, J., Schroder, J, Van Broeckhoven, C., Weis, J.
Publicado em 1999

Molecular biological characterization of an azole-resistant Candida glabrata isolate.

Por Marichal, P, Vanden Bossche, H, Odds, F C, Nobels, G, Warnock, D W, Timmerman, V, Van Broeckhoven, C, Fay, S, Mose-Larsen, P
Publicado em 1997

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

Multimorbidity, control and treatment of non-communicable diseases among primary healthcare attenders in the Western Cape, South Africa

Por Folb, N, Timmerman, V, Levitt, N S, Steyn, K, Bachmann, M O, Lund, C, Bateman, E D, Lombard, C, Gaziano, T A, Zwarenstein, M, Fairall, L R
Publicado no S Afr Med J (2015)

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

Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome

Por Auer-Grumbach, M., Fischer, C., Papić, L., John, E., Plecko, B., Bittner, R. E., Bernert, G., Pieber, T. R., Miltenberger, G., Schwarz, R., Windpassinger, C., Grill, F., Timmerman, V., Speicher, M. R., Janecke, A. R.
Publicado em 2008

Developing 3D SEM in a broad biological context

Por Kremer, A, Lippens, S, Bartunkova, S, Asselbergh, B, Blanpain, C, Fendrych, M, Goossens, A, Holt, M, Janssens, S, Krols, M, Larsimont, J-C, Mc Guire, C, Nowack, MK, Saelens, X, Schertel, A, Schepens, B, Slezak, M, Timmerman, V, Theunis, C, Van Brempt, R, Visser, Y, GuÉRin, CJ
Publicado no J Microsc (2015)

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