Produzione scientifica
Found 5 results
Filtri: Autore is Casali, C. [Clear All Filters]
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.,
, Human mutation, Volume 25, Number 5, p.506, (2005)
An additional family carrying a new atlastin mutation,
, Neurology, Volume 59, Number 12, p.2002-2005, (2002)
Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia,
, Journal of Neurology, Volume 249, Number 2, p.200-205, (2002)
Respiratory chain defects in hereditary spastic paraplegias,
, Neuromuscular Disorders, Volume 11, Number 6-7, p.565-569, (2001)
Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation,
, Neurology, Volume 55, Number 5, p.702-705, (2000)