Divisione Tecnologie e materiali per l’Industria Manifatturiera Sostenibile

Found 12 results

Filtri: Autore is Bertini, E. [Clear All Filters]

2024

Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters, Petrillo, S., Perna A., Quatrana A., Silvestri G., Bertini E., Piemonte F., and Santoro Massimo , International Journal of Molecular Sciences, Volume 25, Number 21, (2024)

2003

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts, Patrono, Clarice, Di Giacinto G., Eymard-Pierre E., Santorelli F.M., Rodriguez D., De Stefano N., Federico A., Gatti R., Benigno V., Megarbané A., et al. , Neurology, Volume 61, Number 4, p.534-537, (2003)

2002

An additional family carrying a new atlastin mutation, Tessa, A., Casali C., Damiano M., Bruno C., Fortini D., Patrono Clarice, Cricchi F., Valoppi M., Nappi G., Amabile G.A., et al. , Neurology, Volume 59, Number 12, p.2002-2005, (2002)

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia, Patrono, Clarice, Casali C., Tessa A., Cricchi F., Fortini D., Carrozzo R., Siciliano G., Bertini E., and Santorelli F.M. , Journal of Neurology, Volume 249, Number 2, p.200-205, (2002)

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34, Valente, E.M., Brancati F., Caputo V., Bertini E., Patrono Clarice, Costanti D., and Dallapiccola B. , Annals of Neurology, Volume 51, Number 6, p.681-685, (2002)

2001

Respiratory chain defects in hereditary spastic paraplegias, Piemonte, F., Casali C., Carrozzo R., Schägger H., Patrono Clarice, Tessa A., Tozzi G., Cricchi F., Di Capua M., Siciliano G., et al. , Neuromuscular Disorders, Volume 11, Number 6-7, p.565-569, (2001)

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome, Carrozzo, R., Tessa A., Vázquez-Memije M.E., Piemonte F., Patrono Clarice, Malandrini A., Dionisi-Vici C., Vilarinho L., Villanova M., Schägger H., et al. , Neurology, Volume 56, Number 5, p.687-690, (2001)

2000

Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation, Santorelli, F.M., Patrono Clarice, Fortini D., Tessa A., Comanducci G., Bertini E., Pierallini A., Amabile G.A., and Casali C. , Neurology, Volume 55, Number 5, p.702-705, (2000)

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome, Patrono, Clarice, Rizzo C., Tessa A., Giannotti A., Borrelli P., Carrozzo R., Piemonte F., Bertini E., Dionisi-Vici C., and Santorelli F.M. , American Journal of Medical Genetics, Volume 91, Number 2, p.138-140, (2000)

A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia., Giannotti, A., Tessa A., Patrono Clarice, Florio L.D., Velardo M., Dionisi-Vici C., Bertini E., and Santorelli F.M. , Human mutation, Volume 16, Number 3, p.277, (2000)

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency, Santoro, L., Carrozzo R., Malandrini A., Piemonte F., Patrono Clarice, Villanova M., Tessa A., Palmeri S., Bertini E., and Santorelli F.M. , Neuromuscular Disorders, Volume 10, Number 6, p.450-453, (2000)

OXPHOS and mtDNA alterations in a family with spastic paraparesis, Santorelli, F.M., Piemonte F., Carrozzo R., Tessa A., Patrono Clarice, Tozzi G., and Bertini E. , Acta Neurologica Scandinavica, Volume 101, Number 4, p.255-258, (2000)