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Results: 1-5 |
Results: 5

Authors: Puccio, H Simon, D Cossee, M Criqui-Filipe, P Tiziano, F Melki, J Hindelang, C Matyas, R Rustin, P Koenig, M
Citation: H. Puccio et al., Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits, NAT GENET, 27(2), 2001, pp. 181-186

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

Authors: Patrizi, AL Tiziano, F Zappata, S Donati, MA Neri, G Brahe, C
Citation: Al. Patrizi et al., SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinalmuscular atrophy patients and its relevance for diagnosis, EUR J HUM G, 7(3), 1999, pp. 301-309

Authors: Vitali, T Sossi, V Tiziano, F Zappata, S Giuli, A Paravatou-Petsotas, M Neri, G Brahe, C
Citation: T. Vitali et al., Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients, HUM MOL GEN, 8(13), 1999, pp. 2525-2532

Authors: Zollino, M Tiziano, F Di Stefano, C Neri, G
Citation: M. Zollino et al., Partial duplication of the long arm of chromosome 15: Confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome, AM J MED G, 87(5), 1999, pp. 391-394
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