Geneeskundige Stichting Koningin Elisabeth ... - GSKE - FMRE

Philadelphia, USA, 3-7 October 2000. American Journal of Human Genetics, A2182
•Muglia, M., Zappia, M., Timmerman, V., Valentino, P., Gabriele, A.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. 50 th Meeting of the American Society of
Human Genetics, Philadelphia, USA, 3-7 October 2000. American Journal of Human
Genetics, A1718
• Verhoeven K, De Vriendt E, De Jonghe P, Auer-Grumbach M, Kwon J, Wagner K, H-P Hartung,
Timmerman V. Ulcero-mutilating peripheral neuropathies: genetic linkage study and mutation
analysis of candidate genes. 50 th Meeting of the American Society of Human Genetics,
Philadelphia, USA, 3-7 October 2000. American Journal of Human Genetics, A1807
•Muglia M, Zappia M, Timmerman V, Valentino P, Gabrielle AL, Conforti FL, De Jonghe P,
Ragno M, Mazzei R, Sabatelli M, Nicoletti G, Patitucci AM, Oliveri RL, Bono F, Gambardella
A, Quattrone A. Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family
from Southern Italy. 9 th Annual Symposium of the European Charcot-Marie-Tooth Consortium,
June 30 - July 1, 2000, Antwerpen – Belgium.
• Efgrafov O, Mersiyanova IV, De Jonghe P, De Vriendt E, Dadali EL, Perepelov AV, Sitnikov
VF, Polyakov AV, Timmerman V. Charcot-Marie-Tooth type 2 is caused by mutations in the
neurofilament light gene. 9 th Annual Symposium of the European Charcot-Marie-Tooth
Consortium, June 30 - July 1, 2000, Antwerpen – Belgium.
•De Jonghe P, Auer-Grumbach M, De Vriendt E, Van Gerwen V, Irobi J, Beuten J, Timmerman
V. Distal hereditary motor neuropathy linked to chromosome 9 and autosomal dominant juvenile
amyotrophic lateral sclerosis (ALS4): two names for the same disorder? 9 th Annual
Symposium of the European Charcot-Marie-Tooth Consortium, June 30 - July 1, 2000,
Antwerpen – Belgium.
•Timmerman V, Nelis E, Verhoeven K, Meuleman J, Irobi J, Venken K, Verpoorten N, De
Vriendt E, Van Gerwen V, Löfgren A, De Jonghe P. Inherited peripheral neuropathies.
Nederlands-Belgische Vereniging voor Experimentele en Klinische Neurowetenschappen,
EKN 30 th Anniversary, 8 December, Beerse – Belgium.
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