Divisione Biotecnologie

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Found 39 results

Filtri: Autore is Clarice Patrono

2003

The relationship between anaerobic lactate threshold and plasma catecholamines during incremental exercise in hereditary spastic paraplegia, Siciliano, G., Pasquali L., Manca M.L., Del Corona A., Tessa A., Patrono Clarice, Prontera C., Zucchelli G., and Santorelli F.M. , Functional Neurology, Volume 18, Number 2, p.83-87, (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)

Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome, Patrono, Clarice, Dionisi-Vici C., Giannotti A., Bembi B., Digilio M.C., Rizzo C., Purificato C., Martini C., Pierini R., and Santorelli F.M. , Molecular and Cellular Probes, Volume 16, Number 4, p.315-318, (2002)

2001

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome, Tessa, A., Carbone I., Matteoli M.C., Bruno C., Patrono Clarice, Patera I.P., De Luca F., Lorini R., and Santorelli F.M. , Human mutation, Volume 17, Number 4, p.348-349, (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)

Letter to the editor, Tessa, A., Patrono Clarice, Santorelli F.M., Giannotti A., Digilio M.C., Pacifico C., Presuttari F., and Tieri L. , Journal of Medical Screening, Volume 7, Number 3, p.167, (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)