Showing papers by "Philippe Latour published in 2007"

TL;DR: The detailed phenotypic study of a family without Gypsy ancestry, who presented with severe demyelinating polyneuropathy, deafness, subcortical white matter abnormalities on brain magnetic resonance imaging studies, indicates that the role of the R148X mutation in NDRG1 in the central nervous system should be further studied.

TL;DR: In this article, a case of neuropathies demyelinisante avec mutations of the gene MFN2 was reported, where les lesions axonales and demyelsinisantes avec hyperplasie schwanienne without regeneration nor inflammation.