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Page 1
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V. Verhoeven K, et al. Among authors: claeys kg. Brain. 2006 Aug;129(Pt 8):2093-102. doi: 10.1093/brain/awl126. Epub 2006 May 19. Brain. 2006. PMID: 16714318
De novo KCNQ2 mutations in patients with benign neonatal seizures.
Claes LR, Ceulemans B, Audenaert D, Deprez L, Jansen A, Hasaerts D, Weckx S, Claeys KG, Del-Favero J, Van Broeckhoven C, De Jonghe P. Claes LR, et al. Among authors: claeys kg. Neurology. 2004 Dec 14;63(11):2155-8. doi: 10.1212/01.wnl.0000145629.94338.89. Neurology. 2004. PMID: 15596769
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.
Verpoorten N, Claeys KG, Deprez L, Jacobs A, Van Gerwen V, Lagae L, Arts WF, De Meirleir L, Keymolen K, Ceuterick-de Groote C, De Jonghe P, Timmerman V, Nelis E. Verpoorten N, et al. Among authors: claeys kg. Neuromuscul Disord. 2006 Jan;16(1):19-25. doi: 10.1016/j.nmd.2005.10.007. Epub 2005 Dec 20. Neuromuscul Disord. 2006. PMID: 16373086
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM. Züchner S, et al. Among authors: claeys kg. Ann Neurol. 2006 Feb;59(2):276-81. doi: 10.1002/ana.20797. Ann Neurol. 2006. PMID: 16437557
A novel GABRG2 mutation associated with febrile seizures.
Audenaert D, Schwartz E, Claeys KG, Claes L, Deprez L, Suls A, Van Dyck T, Lagae L, Van Broeckhoven C, Macdonald RL, De Jonghe P. Audenaert D, et al. Among authors: claeys kg. Neurology. 2006 Aug 22;67(4):687-90. doi: 10.1212/01.wnl.0000230145.73496.a2. Neurology. 2006. PMID: 16924025 Clinical Trial.
Epilepsy and migraine in a patient with Urbach-Wiethe disease.
Claeys KG, Claes LR, Van Goethem JW, Sercu S, Merregaert J, Lambert J, Van Marck EA, Parizel PM, De Jonghe P. Claeys KG, et al. Seizure. 2007 Jul;16(5):465-8. doi: 10.1016/j.seizure.2007.02.014. Epub 2007 Apr 2. Seizure. 2007. PMID: 17403608 Free article.
170 results