Facial onset sensory and motor neuronopathy : autour d’un cas strasbourgeois
Sign Up to like & getrecommendations! Published in 2019 at "Revue Neurologique"
DOI: 10.1016/j.neurol.2019.01.113
Abstract: Introduction Le FOSMN (Facial onset sensory and motor neuronopathy) est un syndrome rare, lentement progressif, caracterise par une atteinte sensitive et motrice predominante dans le territoire du trijumeau et des membres superieurs. Observation Nous presentons… read more here.
Keywords: facial onset; sensitive motrice; onset sensory; cas ... See more keywords
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of human genetics"
DOI: 10.1038/s10038-020-00853-2
Abstract: Pontocerebellar hypoplasia (PCH) is currently classified into 13 subgroups and many gene variants associated with PCH have been identified by next generation sequencing. PCH type 1 is a rare heterogeneous neurodegenerative disorder. The clinical presentation… read more here.
Keywords: neuronopathy cerebellar; type; motor neuronopathy; exosc9 variants ... See more keywords