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Page 1
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.
Quattrone A, Gambardella A, Bono F, Aguglia U, Bolino A, Bruni AC, Montesi MP, Oliveri RL, Sabatelli M, Tamburrini O, Valentino P, Van Broeckhoven C, Zappia M. Quattrone A, et al. Among authors: van broeckhoven c. Neurology. 1996 May;46(5):1318-24. doi: 10.1212/wnl.46.5.1318. Neurology. 1996. PMID: 8628474
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
Gabreëls-Festen AA, Hoogendijk JE, Meijerink PH, Gabreëls FJ, Bolhuis PA, van Beersum S, Kulkens T, Nelis E, Jennekens FG, de Visser M, van Engelen BG, Van Broeckhoven C, Mariman EC. Gabreëls-Festen AA, et al. Among authors: van beersum s, van engelen bg, van broeckhoven c. Neurology. 1996 Sep;47(3):761-5. doi: 10.1212/wnl.47.3.761. Neurology. 1996. PMID: 8797476
Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous.
Kuhlenbäumer G, Meuleman J, De Jonghe P, Falck B, Young P, Hünermund G, Van Broeckhoven C, Timmerman V, Stögbauer F. Kuhlenbäumer G, et al. Among authors: van broeckhoven c. J Neurol. 2001 Oct;248(10):861-5. doi: 10.1007/s004150170070. J Neurol. 2001. PMID: 11697522
De-novo mutation in hereditary motor and sensory neuropathy type I.
Hoogendijk JE, Hensels GW, Gabreëls-Festen AA, Gabreëls FJ, Janssen EA, de Jonghe P, Martin JJ, van Broeckhoven C, Valentijn LJ, Baas F, et al. Hoogendijk JE, et al. Among authors: van broeckhoven c. Lancet. 1992 May 2;339(8801):1081-2. doi: 10.1016/0140-6736(92)90668-s. Lancet. 1992. PMID: 1349106
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V. Nelis E, et al. Among authors: van gerwen v, van den bergh py, van broeckhoven c. Neurology. 2002 Dec 24;59(12):1865-72. doi: 10.1212/01.wnl.0000036272.36047.54. Neurology. 2002. PMID: 12499475
779 results