Publications by authors named "Maria Raftopoulou"

In this paper, we focus on the link density in random geometric graphs (RGGs) with a distance-based connection function. After deriving the link density in D dimensions, we focus on the two-dimensional (2D) and three-dimensional (3D) space and show that the link density is accurately approximated by the Fréchet distribution, for any rectangular space. We derive expressions, in terms of the link density, for the minimum number of nodes needed in the 2D and 3D spaces to ensure network connectivity.

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There has been limited information from population studies regarding the overall frequency of the common 1.5-Mb 17p11.2 deletion and even scarcer data regarding the overall frequency of PMP22 micromutations in patients with a clinical suspicion of hereditary neuropathy with liability to pressure palsies (HNPP).

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We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. Cys64Tyr) which was recently reported by our group.

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Charcot-Marie-Tooth (CMT) disease, the most common hereditary neuropathy, is clinically and genetically heterogeneous. X-linked CMT (CMTX) is usually caused by mutations in the gap junction protein b 1 gene (GJB1) coding for connexin 32 (Cx32). The clinical manifestations of CMTX are characterized by significant variability, with some patients exhibiting central nervous system (CNS) involvement.

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