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