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Results: 1-25 | 26-26
Results: 1-25/26
Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains
Authors: Miano, MG Testa, F Filippini, F Trujillo, M Conte, I Lanzara, C Millan, JM De Bernardo, C Grammatico, B Mangino, M Torrente, I Carrozzo, R Simonelli, F Rinaldi, E Ventruto, V D'Urso, M Ayuso, C Ciccodicola, A
Citation: Mg. Miano et al., Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains, HUM MUTAT, 18(2), 2001, pp. 109-119
Respiratory chain defects in hereditary spastic paraplegias
Authors: Piemonte, F Casali, C Carrozzo, R Schagger, H Patrono, C Tessa, A Tozzi, G Cricchi, F Di Capua, M Siciliano, G Amabile, GA Morocutti, C Bertini, E Santorelli, FM
Citation: F. Piemonte et al., Respiratory chain defects in hereditary spastic paraplegias, NEUROMUSC D, 11(6-7), 2001, pp. 565-569
The genetics of epilepsy - Introduction
Authors: Gurrieri, F Carrozzo, R
Citation: F. Gurrieri et R. Carrozzo, The genetics of epilepsy - Introduction, AM J MED G, 106(2), 2001, pp. 117-118
Epilepsy and genetic malformations of the cerebral cortex
Authors: Guerrini, R Carrozzo, R
Citation: R. Guerrini et R. Carrozzo, Epilepsy and genetic malformations of the cerebral cortex, AM J MED G, 106(2), 2001, pp. 160-173
Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a sephardic Jewish family
Authors: Casali, C Bonifati, V Santorelli, FM Casari, G Fortini, D Patrignani, A Fabbrini, G Carrozzo, R D'Amati, G Locuratolo, N Vanacore, N Damiano, M Pierallini, A Pierelli, F Amabile, GA Meco, G
Citation: C. Casali et al., Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a sephardic Jewish family, NEUROLOGY, 56(6), 2001, pp. 802-805
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome
Authors: Carrozzo, R Tessa, A Vazquez-Memije, ME Piemonte, F Patrono, C Malandrini, A Dionisi-Vici, C Vilarinho, L Villanova, M Schagger, H Federico, A Bertini, E Santorelli, F
Citation: R. Carrozzo et al., The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome, NEUROLOGY, 56(5), 2001, pp. 687-690
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
Authors: Rossi, E Piccini, F Zollino, M Neri, G Caselli, D Tenconi, R Castellan, C Carrozzo, R Danesino, C Zuffardi, O Ragusa, A Castiglia, L Galesi, O Greco, D Romano, C Pierluigi, M Perfumo, C Di Rocco, M Faravelli, F Bricarelli, FD Bonaglia, M Bedeschi, M Borgatti, R
Citation: E. Rossi et al., Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations, J MED GENET, 38(6), 2001, pp. 417-420
Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles
Authors: Hanson, BJ Carrozzo, R Piemonte, F Tessa, A Robinson, BH Capaldi, RA
Citation: Bj. Hanson et al., Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles, J BIOL CHEM, 276(19), 2001, pp. 16296-16301
Glutathione in blood of patients with Friedreich's ataxia
Authors: Piemonte, F Pastore, A Tozzi, G Tagliacozzi, D Santorelli, FM Carrozzo, R Casali, C Damiano, M Federici, G Bertini, E
Citation: F. Piemonte et al., Glutathione in blood of patients with Friedreich's ataxia, EUR J CL IN, 31(11), 2001, pp. 1007-1011
A novel mtDNA mutation in the ATPase6 gene studied by E-Coli modeling
Authors: Carrozzo, R Murray, J Capuano, O Tessa, A Chichierchia, G Neglia, MR Capaldi, RA Santorelli, FM
Citation: R. Carrozzo et al., A novel mtDNA mutation in the ATPase6 gene studied by E-Coli modeling, NEUROL SCI, 21(5), 2000, pp. S983-S984
Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements
Authors: Giglio, S Pirola, B Arrigo, G Dagrada, P Bardoni, B Bernardi, F Russo, G Argentiero, L Forabosco, A Carrozzo, R Zuffardi, O
Citation: S. Giglio et al., Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements, EUR J HUM G, 8(1), 2000, pp. 63-70
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency
Authors: Santoro, L Carrozzo, R Malandrini, A Piemonte, F Patrono, C Villanova, M Tessa, A Palmeri, S Bertini, E Santorelli, FM
Citation: L. Santoro et al., A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency, NEUROMUSC D, 10(6), 2000, pp. 450-453
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy
Authors: Guerrini, R Shanahan, JL Carrozzo, R Bonanni, P Higgs, DR Gibbons, RJ
Citation: R. Guerrini et al., A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy, ANN NEUROL, 47(1), 2000, pp. 117-121
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome
Authors: Patrono, C Rizzo, C Tessa, A Giannotti, A Borrelli, P Carrozzo, R Piemonte, F Bertini, E Dionisi-Vici, C Santorelli, FM
Citation: C. Patrono et al., Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome, AM J MED G, 91(2), 2000, pp. 138-140
Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16
Authors: Guerrini, R Parmeggiani, L Bonanni, P Carrozzo, R Casari, G
Citation: R. Guerrini et al., Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16, NEUROLOGY, 55(5), 2000, pp. 738-738
The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli
Authors: Carrozzo, R Murray, J Santorelli, FM Capaldi, RA
Citation: R. Carrozzo et al., The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli, FEBS LETTER, 486(3), 2000, pp. 297-299
A patient with maternal chromosome 14 UPD presenting with a mild phenotypeand MODY
Authors: Manzoni, MF Pramparo, T Stroppolo, A Chiaino, F Bosi, E Zuffardi, O Carrozzo, R
Citation: Mf. Manzoni et al., A patient with maternal chromosome 14 UPD presenting with a mild phenotypeand MODY, CLIN GENET, 57(5), 2000, pp. 406-408
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrumof congenital heart defects
Authors: Giglio, S Graw, SL Gimelli, G Pirola, B Varone, P Voullaire, L Lerzo, F Rossi, E Dellavecchia, C Bonaglia, MC Digilio, MC Giannotti, A Marino, B Carrozzo, R Korenberg, JR Danesino, C Sujansky, E Dallapiccola, B Zuffardi, O
Citation: S. Giglio et al., Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrumof congenital heart defects, CIRCULATION, 102(4), 2000, pp. 432-437
OXPHOS and mtDNA alterations in a family with spastic paraparesis
Authors: Santorelli, FM Piemonte, F Carrozzo, R Tessa, A Patrono, C Tozzi, G Bertini, E
Citation: Fm. Santorelli et al., OXPHOS and mtDNA alterations in a family with spastic paraparesis, ACT NEUR SC, 101(4), 2000, pp. 255-258
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2
Authors: Guerrini, R Bonanni, P Nardocci, N Parmeggiani, L Piccirilli, M De Fusco, M Aridon, P Ballabio, A Carrozzo, R Casari, G
Citation: R. Guerrini et al., Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2, ANN NEUROL, 45(3), 1999, pp. 344-352
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.
Authors: Fogli, A Guerrini, R Moro, F Fernandez-Alvarez, E Livet, MO Renieri, A Cioni, M Pilz, DT Veggiotti, P Rossi, E Ballabio, A Carrozzo, R
Citation: A. Fogli et al., Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly., ANN NEUROL, 45(2), 1999, pp. 154-161
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes
Authors: Fogli, A Giglio, S Arrigo, G Lo Nigro, C Zollo, M Viggiano, L Rocchi, M Archidiacono, N Zuffardi, O Carrozzo, R
Citation: A. Fogli et al., Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes, CYTOG C GEN, 86(3-4), 1999, pp. 225-232
Bilateral perisylvian polymicrogyria in three generations
Authors: Borgatti, R Triulzi, F Zucca, C Piccinelli, P Balottin, U Carrozzo, R Guerrini, R
Citation: R. Borgatti et al., Bilateral perisylvian polymicrogyria in three generations, NEUROLOGY, 52(9), 1999, pp. 1910-1913
Cellular and molecular studies in muscle and cultures from patients with multiple mitochondrial DNA deletions
Authors: Carrozzo, R Davidson, MM Walker, WF Hirano, M Miranda, AF
Citation: R. Carrozzo et al., Cellular and molecular studies in muscle and cultures from patients with multiple mitochondrial DNA deletions, J NEUR SCI, 170(1), 1999, pp. 24-31
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain
Authors: Petruzzella, V Tiranti, V Fernandez, P Ianna, P Carrozzo, R Zeviani, M
Citation: V. Petruzzella et al., Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain, GENOMICS, 54(3), 1998, pp. 494-504
Risultati: 1-25 | 26-26