Produzione Scientifica
Found 6 results
Filters: Author is Piemonte, F. [Clear All Filters]
Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters,
, International Journal of Molecular Sciences, Volume 25, Number 21, (2024)
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)