Affiliation: Catholic University
- Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian familiesA R Bentivoglio
Istituto di Neurologia, Universita Cattolica, Roma, Italy
Mov Disord 16:999-1006. 2001..Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family-related differences were found. PARK6 disease is a new form of early-onset parkinsonism without other atypical clinical features...
- Phenotypic characterization of DYT13 primary torsion dystoniaAnna Rita Bentivoglio
Istituto di Neurologia, Universita Cattolica, Rome, Italy
Mov Disord 19:200-6. 2004..Moreover, the individuals with generalised dystonia were not severely disabled and were able to lead independent lives. To date, this is the only family with DYT13-PTD...
- Partial rescue of Brca1 (5-6) early embryonic lethality by p53 or p21 null mutationR Hakem
Amgen Institute, Toronto, Ontario, Canada
Nat Genet 16:298-302. 1997..5. The fact that mutation of neither p53 nor p21 completely rescued Brca1 (5-6) embryos suggests that their lethality is likely due to a multi-factorial process...
- Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 geneM Feldman
The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Clin Genet 69:135-44. 2006..The identification of responsible mutations facilitates antenatal or postnatal diagnosis in concerned families and improves the prognosis...