Affiliation: University of Bologna
- Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneityT Pippucci
Laboratorio di Genetica Medica, Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche, Policlinico Sant Orsola Malpighi, Universita di Bologna, Bologna, Italy
Eur J Neurol 16:121-6. 2009..In this study, involvement of the SPG11 or 8p12-p11.21 loci was investigated in five Italian families, of which four consanguineous...
- EX-HOM (EXome HOMozygosity): a proof of principleTommaso Pippucci
Medical Genetics Unit, Department of Gynecological, Obstetric and Pediatric Sciences, University of Bologna, Italy
Hum Hered 72:45-53. 2011....
- Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genesE Panza
Laboratory of Medical Genetics, Department of Internal Medicine, Cardioangiology and Hepatology, University of Bologna, Bologna, Italy
Eur J Neurol 15:520-4. 2008..In the same region, two other forms of HSP have been recently mapped: SPG27 and SPG33. In the latter case, the gene responsible has been identified...