Huntington disease (HD) is a neurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic t...
Hospital-based stroke data banks can contribute to a better management of stroke patients with consequent reduction of associated morbidity and mortality.The characterisation of stroke patients and validation of the hospital stroke registry.Hospital S.Pedro, Vila Real, a secondary neurological referral centre for 450.000 inhabitants of interior north Portugal.Analysis of data collected over one year of a prospe...
Financiadores do RCAAP | |||||||
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