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Results: 1-12 |
Results: 12
Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies
Authors: Di Giovanni, S Mirabella, M Papacci, M Odoardi, F Silvestri, G Servidei, S
Citation: S. Di Giovanni et al., Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies, MOL CELL NE, 17(4), 2001, pp. 696-705
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype
Authors: Sossi, V Giuli, A Vitali, T Tiziano, F Mirabella, M Antonelli, A Neri, G Brahe, C
Citation: V. Sossi et al., Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype, EUR J HUM G, 9(2), 2001, pp. 113-120
Relapsing-remitting autoimmune agrypnia
Authors: Batocchi, AP Della Marca, G Mirabella, M Caggiula, M Frisullo, G Mennuni, GF Tonali, PA
Citation: Ap. Batocchi et al., Relapsing-remitting autoimmune agrypnia, ANN NEUROL, 50(5), 2001, pp. 668-671
Coenzyme Q(10) reverses pathological phenotype and reduces apoptosis in familial CoQ(10) deficiency
Authors: Di Giovanni, S Mirabella, M Spinazzola, A Crociani, P Silvestri, G Broccolini, A Tonali, P Di Mauro, S Servidei, S
Citation: S. Di Giovanni et al., Coenzyme Q(10) reverses pathological phenotype and reduces apoptosis in familial CoQ(10) deficiency, NEUROLOGY, 57(3), 2001, pp. 515-518
Apoptotic features accompany acute quadriplegic myopathy - Reply
Authors: Di Giovanni, S Mirabella, M Servidei, S
Citation: S. Di Giovanni et al., Apoptotic features accompany acute quadriplegic myopathy - Reply, NEUROLOGY, 56(8), 2001, pp. 1122-1122
An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1
Authors: Mirabella, M Christodoulou, K Di Giovanni, S Ricci, E Tonali, P Servidei, S
Citation: M. Mirabella et al., An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1, NEUROL SCI, 21(2), 2000, pp. 99-102
Apoptotic features accompany acute quadriplegic myopathy
Authors: Di Giovanni, S Mirabella, M D'Amico, A Tonali, P Servidei, S
Citation: S. Di Giovanni et al., Apoptotic features accompany acute quadriplegic myopathy, NEUROLOGY, 55(6), 2000, pp. 854-858
GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy
Authors: Mirabella, M Silvestri, G de Rosa, G Di Giovanni, S Di Muzio, A Uncini, A Tonali, P Servidei, S
Citation: M. Mirabella et al., GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy, NEUROLOGY, 54(3), 2000, pp. 608-614
gamma 1-and gamma 2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells
Authors: Piluso, G Mirabella, M Ricci, E Belsito, A Abbondanza, C Servidei, S Puca, AA Tonali, P Puca, GA Nigro, V
Citation: G. Piluso et al., gamma 1-and gamma 2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells, J BIOL CHEM, 275(21), 2000, pp. 15851-15860
Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism
Authors: Mirabella, M Di Giovanni, S Silvestri, G Tonali, P Servidei, S
Citation: M. Mirabella et al., Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism, BRAIN, 123, 2000, pp. 93-104
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype
Authors: Ricci, E Galluzzi, G Deidda, G Cacurri, S Colantoni, L Merico, B Piazzo, N Servidei, S Vigneti, E Pasceri, V Silvestri, G Mirabella, M Mangiola, F Tonali, P Felicetti, L
Citation: E. Ricci et al., Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype, ANN NEUROL, 45(6), 1999, pp. 751-757
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13
Authors: Servidei, S Capon, F Spinazzola, A Mirabella, M Semprini, S de Rosa, G Gennarelli, M Sangiuolo, F Ricci, E Mohrenweiser, HW Dallapiccola, B Tonali, P Novelli, G
Citation: S. Servidei et al., A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13, NEUROLOGY, 53(4), 1999, pp. 830-837
Risultati: 1-12 |