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Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.
Lenssen PP, Gabreëls-Festen AA, Valentijn LJ, Jongen PJ, van Beersum SE, van Engelen BG, van Wensen PJ, Bolhuis PA, Gabreëls FJ, Mariman EC. Lenssen PP, et al. Among authors: gabreels fj, gabreels festen aa. Brain. 1998 Aug;121 ( Pt 8):1451-8. doi: 10.1093/brain/121.8.1451. Brain. 1998. PMID: 9712007
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.
Gabreëls-Festen A, van Beersum S, Eshuis L, LeGuern E, Gabreëls F, van Engelen B, Mariman E. Gabreëls-Festen A, et al. J Neurol Neurosurg Psychiatry. 1999 May;66(5):569-74. doi: 10.1136/jnnp.66.5.569. J Neurol Neurosurg Psychiatry. 1999. PMID: 10209165 Free PMC article.
270 results