Divisione Biotecnologie e Agroindustria

Found 17 results

Filtri: Autore is Santorelli, F.M. [Clear All Filters]

2005

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations., Patrono, Clarice, Scarano V., Cricchi F., Melone M.A., Chiriaco M., Napolitano A., Malandrini A., De Michele G., Petrozzi L., Giraldi C., et al. , Human mutation, Volume 25, Number 5, p.506, (2005)

Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNALys gene, Bornstein, B., Mas J.A., Patrono Clarice, Fernández-Moreno M.A., González-Vioque E., Campos Y., Carrozzo R., Martín M.A., Del Hoyo P., Santorelli F.M., et al. , Biochemical Journal, Volume 387, Number 3, p.773-778, (2005)

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy., Montagna, G., Di Biase A., Cappa M., Melone M.A., Piantadosi C., Colabianchi D., Patrono Clarice, Attori L., Cannelli N., Cotrufo R., et al. , Human mutation., Volume 25, Number 2, p.222, (2005)

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)

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)

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)