Geneeskundige Stichting Koningin Elisabeth ... - GSKE - FMRE

182
Publications with respect to the GSKE, for the period 2000.
* = publications with acknowledgements to GSKE
Published articles in international journals and books.
• De Jonghe, P., Timmerman, V., Nelis, E.: In ‘Monographs in Clinical Neuroscience’, F.
Deymeer ed., Karger, Basel: ‘Hereditary peripheral neuropathies’, 128-146 (2000). *
•Irobi, J., Tissir, F., De Jonghe, P., De Vriendt, E., Van Broeckhoven, C., Timmerman, V.,
Beuten, J.: A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy
type II gene. Genomics 65: 34-43 (2000) *
•Timmerman, V., De Jonghe, P., Van Broeckhoven, C.: Of giant axons and curly hair. Nature
Genetics 26(3): 254-255 (2000)
• Auer-Grumbach, M., Wagner, K., Timmerman, V., De Jonghe, P., Hartung, H.P.: Ulcero-mutilating
neuropathy in an Austrian kinship without linkage to hereditary motor and sensory
neuropathy IIB and hereditary sensory neuropathy I loci. Neurology 54(1): 45-52 (2000) *
• Hargrave, M., James, K., Nield, K., Toomes, C., Georgas, K., Sullivan; T., Verzijl, H.T., Oley,
C.A., Little, M., De Jonghe, P., Kwon, J.M., Kremer, H., Dixon, M.J., Timmerman, V.,
Yamada, T., Koopman, P.: Fine mapping of the neurally expressed gene SOX14 to human
3q23, relative to three congenital diseases. Hum Genet 106(4): 432-439 (2000) *
• Senderek, J., Hermanns, B., Lehmann, U., Bergmann, C., Marx, G., Kabus, C., Timmerman,
V., Stoltenburg-Didinger, G., Schröder, J.M.: Charcot-Marie-Tooth neuropathy type 2 and P0
point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible
"hotspot" on Thr124Met. Brain Pathology, 10(2): 235-248 (2000)
• Auer-Grumbach, M. De Jonghe, P., Wagner, K., Verhoeven, K., Hartung, H.-P., Timmerman,
V.: Refinement of Charcot-Marie-Tooth type 2B locus on 3q13-22 in an Austrian family with
ulcero-mutilations. Neurology, 55(10):1552-1557 (2000)*
Published articles in national journals
•Meuleman, J., Timmerman, V., Nelis, E., De Jonghe, P.: Molecular genetics of inherited peripheral
neuropathies: Who are the actors? Acta Neurologica Belgia 100: 171-180 (2000) *
Articles in international journals and books, in press.
• De Jonghe, P., Mersiyanova, I., Nelis, E.. Del Favero, J., Martin, J-J., Van Broeckhoven, C.,
Evgrafov, O., Timmerman, V.: Further evidence that neurofilament light chain gene mutations
can cause Charcot-Marie-Tooth disease type 2E. Annals of Neurology, in press *
•Muglia, M., Zappia, M., Timmerman, V., Valentino, P., Gabriele, L., Conforti, F.L., De
Jonghe, P., Ragno, M., Mazzei, R., Sabatelli, M., Nicoletti, G., Patitucci, A.M., Oliveri, R.L.,
Bono, F., Gambardella, A., Quattrone, A.: Clinical and genetic study of a large Charcot-
Marie-Tooth type 2A family from Southern Italy. Neurology, in press *
Abstracts of inter- and national meetings.
•Evgrafov OV, Mersiyanova IV, De Jonghe P, De Vriendt E, Dadalli EL, Perepelov EP, Sitnikov
IP, Polyakov A, Timmerman V. Charcot-Marie-Tooth type 2E is caused by mutations in the
neurofilament light gene. 50 th Meeting of the American Society of Human Genetics,