Produzione Scientifica
Found 7 results
Filters: Author is Carrozzo, R. [Clear All Filters]
Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNALys gene,
, Biochemical Journal, Volume 387, Number 3, p.773-778, (2005)
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)
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome,
, Neurology, Volume 56, Number 5, p.687-690, (2001)
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome,
, American Journal of Medical Genetics, Volume 91, Number 2, p.138-140, (2000)
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency,
, Neuromuscular Disorders, Volume 10, Number 6, p.450-453, (2000)
OXPHOS and mtDNA alterations in a family with spastic paraparesis,
, Acta Neurologica Scandinavica, Volume 101, Number 4, p.255-258, (2000)