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Mutations in SACS cause atypical and late-onset forms of ARSACS.
Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P. Baets J, et al. Among authors: robberecht w. Neurology. 2010 Sep 28;75(13):1181-8. doi: 10.1212/WNL.0b013e3181f4d86c. Neurology. 2010. PMID: 20876471
Upregulation of HSP27 in a transgenic model of ALS.
Vleminckx V, Van Damme P, Goffin K, Delye H, Van Den Bosch L, Robberecht W. Vleminckx V, et al. Among authors: robberecht w. J Neuropathol Exp Neurol. 2002 Nov;61(11):968-74. doi: 10.1093/jnen/61.11.968. J Neuropathol Exp Neurol. 2002. PMID: 12430713
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, Kremensky I, Van Den Bosch L, Robberecht W, Van Vandekerckhove J, Van Broeckhoven C, Gettemans J, De Jonghe P, Timmerman V. Irobi J, et al. Among authors: robberecht w. Nat Genet. 2004 Jun;36(6):597-601. doi: 10.1038/ng1328. Epub 2004 May 2. Nat Genet. 2004. PMID: 15122253
Synaptopodin and 4 novel genes identified in primary sensory neurons.
Verpoorten N, Verhoeven K, Weckx S, Jacobs A, Serneels S, Del Favero J, Ceuterick C, Van Bockstaele DR, Berneman ZN, Van den Bosch L, Robberecht W, Nobbio L, Schenone A, Dessaud E, deLapeyrière O, Huylebroeck D, Zwijsen A, De Jonghe P, Timmerman V. Verpoorten N, et al. Among authors: robberecht w. Mol Cell Neurosci. 2005 Nov;30(3):316-25. doi: 10.1016/j.mcn.2005.07.005. Epub 2005 Sep 1. Mol Cell Neurosci. 2005. PMID: 16139508
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V. Jordanova A, et al. Among authors: robberecht w. Nat Genet. 2006 Feb;38(2):197-202. doi: 10.1038/ng1727. Epub 2006 Jan 22. Nat Genet. 2006. PMID: 16429158 Free article.
288 results