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Hereditary motor and sensory neuropathy with absence of large myelinated fibers due to absence of large neurons in dorsal root ganglia and anterior horns, clinically associated with deafness, mental retardation, and epilepsy (HMSN-ADM).
Müller HD, Mugler M, Ramaekers VT, Schröder JM. Müller HD, et al. Among authors: ramaekers vt. J Peripher Nerv Syst. 2000 Sep;5(3):147-57. doi: 10.1046/j.1529-8027.2000.00020.x. J Peripher Nerv Syst. 2000. PMID: 11442171
Reduced folate transport to the CNS in female Rett patients.
Ramaekers VT, Hansen SI, Holm J, Opladen T, Senderek J, Häusler M, Heimann G, Fowler B, Maiwald R, Blau N. Ramaekers VT, et al. Neurology. 2003 Aug 26;61(4):506-15. doi: 10.1212/01.wnl.0000078939.64774.1b. Neurology. 2003. PMID: 12939425
86 results