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Results: 1-16 |
Results: 16
Maternally inherited deafness associated with a T1095C mutation in the mDNA
Authors: Tessa, A Giannotti, A Tieri, L Vilarinho, L Marotta, G Santorelli, FM
Citation: A. Tessa et al., Maternally inherited deafness associated with a T1095C mutation in the mDNA, EUR J HUM G, 9(2), 2001, pp. 147-149
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 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
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
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
Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies
Authors: Siciliano, G Mancuso, M Pasquali, L Manca, ML Tessa, A Iudice, A
Citation: G. Siciliano et al., Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies, NEUROL SCI, 21(5), 2000, pp. S985-S987
Rapid detection of the 35delG mutation in the GJB2 gene in childhood deafness
Authors: Tessa, A Patrono, C Santorelli, FM Giannotti, A Digilio, MC Pacifico, C Presuttari, F Tieri, L
Citation: A. Tessa et al., Rapid detection of the 35delG mutation in the GJB2 gene in childhood deafness, J MED SCREE, 7(3), 2000, pp. 167-167
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 CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL
Authors: Simonati, A Santorum, E Tessa, A Polo, A Simonetti, F Bernardina, BD Santorelli, FM Rizzuto, N
Citation: A. Simonati et al., A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL, NEUROPEDIAT, 31(4), 2000, pp. 199-201
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
Multiple mtDNA deletions: Clinical and molecular correlations
Authors: Santorelli, FM De Joanna, G Casali, C Tessa, A Siciliano, G Amabile, GA Pierelli, F Vilarinho, L Santoro, L
Citation: Fm. Santorelli et al., Multiple mtDNA deletions: Clinical and molecular correlations, J INH MET D, 23(2), 2000, pp. 155-161
Intrafamilial variability in hereditary spastic paraplegia associated withan SPG4 gene mutation
Authors: Santorelli, FM Patrono, C Fortini, D Tessa, A Comanducci, G Bertini, E Pierallini, A Amabile, GA Casali, C
Citation: Fm. Santorelli et al., Intrafamilial variability in hereditary spastic paraplegia associated withan SPG4 gene mutation, NEUROLOGY, 55(5), 2000, pp. 702-705
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
MtDNA-related idiopathic dilated cardiomyopathy
Authors: Tessa, A Vilarinho, L Casali, C Santorelli, FM
Citation: A. Tessa et al., MtDNA-related idiopathic dilated cardiomyopathy, EUR J HUM G, 7(8), 1999, pp. 847-848
Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association
Authors: Mancuso, M Bianchi, MC Santorelli, FM Tessa, A Casali, C Murri, L Siciliano, G
Citation: M. Mancuso et al., Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association, J NEUROL, 246(12), 1999, pp. 1197-1198
Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation
Authors: Siciliano, G Tessa, A Renna, M Manca, ML Mancuso, M Murri, L
Citation: G. Siciliano et al., Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation, CLIN GENET, 56(1), 1999, pp. 51-58
Risultati: 1-16 |